Variant report

Variant	esv1797143
Chromosome Location	chr7:6628177-6705439
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2749)
CpG islands
(count:4088)
Chromatin interactive
region (count:161)
LncRNA
region (count:17)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2749 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:6629531-6629849	HepG2	liver:	n/a	n/a
2	ARID3A	chr7:6680032-6680221	K562	blood:	n/a	n/a
3	ARID3A	chr7:6629468-6629712	K562	blood:	n/a	n/a
4	ATF1	chr7:6652571-6652812	K562	blood:	n/a	n/a
5	ATF2	chr7:6629394-6629712	GM12878	blood:	n/a	n/a
6	ATF2	chr7:6676670-6676974	GM12878	blood:	n/a	n/a
7	ATF3	chr7:6676663-6677108	GM12878	blood:	n/a	n/a
8	ATF3	chr7:6676764-6677038	K562	blood:	n/a	n/a
9	ATF3	chr7:6676729-6677016	HepG2	liver:	n/a	n/a
10	ATF3	chr7:6676775-6677020	GM12878	blood:	n/a	n/a
11	ATF3	chr7:6679904-6680092	K562	blood:	n/a	n/a
12	ATF3	chr7:6629344-6630003	A549	lung:	n/a	chr7:6629523-6629532 chr7:6629564-6629584
13	ATF3	chr7:6629337-6629771	A549	lung:	n/a	chr7:6629523-6629532 chr7:6629564-6629584
14	BACH1	chr7:6629362-6630071	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr7:6677373-6677430	K562	blood:	n/a	n/a
16	BACH1	chr7:6630335-6630344	K562	blood:	n/a	n/a
17	BACH1	chr7:6676690-6676978	K562	blood:	n/a	n/a
18	BACH1	chr7:6676413-6677735	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr7:6703886-6703996	H1-hESC	embryonic stem cell:	n/a	n/a
20	BATF	chr7:6659295-6659530	GM12878	blood:	n/a	n/a
21	BATF	chr7:6679547-6679737	GM12878	blood:	n/a	n/a
22	BCL3	chr7:6693271-6693492	GM12878	blood:	n/a	n/a
23	BCL3	chr7:6662021-6662558	GM12878	blood:	n/a	chr7:6662039-6662052 chr7:6662045-6662058 chr7:6662050-6662059 chr7:6662047-6662056 chr7:6662040-6662053 chr7:6662044-6662053 chr7:6662036-6662049
24	BCL3	chr7:6629362-6630010	GM12878	blood:	n/a	chr7:6629794-6629807 chr7:6629869-6629878 chr7:6629872-6629881 chr7:6629775-6629788 chr7:6629561-6629574 chr7:6629733-6629746 chr7:6629799-6629812
25	BCL3	chr7:6676620-6677051	GM12878	blood:	n/a	chr7:6676897-6676906
26	BCL3	chr7:6693791-6694049	GM12878	blood:	n/a	n/a
27	BCL3	chr7:6629789-6630335	A549	lung:	n/a	chr7:6629794-6629807 chr7:6629869-6629878 chr7:6629872-6629881 chr7:6629799-6629812
28	BCL3	chr7:6662073-6662402	GM12878	blood:	n/a	n/a
29	BCLAF1	chr7:6641859-6642232	GM12878	blood:	n/a	n/a
30	BCLAF1	chr7:6676612-6677075	GM12878	blood:	n/a	chr7:6676897-6676906
31	BCLAF1	chr7:6629293-6630019	GM12878	blood:	n/a	chr7:6629794-6629807 chr7:6629869-6629878 chr7:6629872-6629881 chr7:6629775-6629788 chr7:6629561-6629574 chr7:6629733-6629746 chr7:6629799-6629812
32	BCLAF1	chr7:6629326-6630156	GM12878	blood:	n/a	chr7:6629794-6629807 chr7:6629869-6629878 chr7:6629872-6629881 chr7:6629775-6629788 chr7:6629561-6629574 chr7:6629733-6629746 chr7:6629799-6629812
33	BHLHE40	chr7:6641910-6642137	K562	blood:	n/a	n/a
34	BHLHE40	chr7:6676643-6677601	GM12878	blood:	n/a	chr7:6677407-6677423
35	BHLHE40	chr7:6685656-6685802	K562	blood:	n/a	n/a
36	BHLHE40	chr7:6698826-6699225	HepG2	liver:	n/a	n/a
37	BHLHE40	chr7:6679828-6680319	K562	blood:	n/a	n/a
38	BHLHE40	chr7:6676722-6677023	K562	blood:	n/a	n/a
39	BHLHE40	chr7:6676405-6676427	K562	blood:	n/a	n/a
40	BHLHE40	chr7:6663730-6663805	GM12878	blood:	n/a	n/a
41	BHLHE40	chr7:6629403-6629935	GM12878	blood:	n/a	chr7:6629730-6629746 chr7:6629677-6629693 chr7:6629672-6629688 chr7:6629690-6629706
42	BHLHE40	chr7:6698832-6699007	K562	blood:	n/a	n/a
43	BHLHE40	chr7:6629402-6629797	HepG2	liver:	n/a	chr7:6629730-6629746 chr7:6629677-6629693 chr7:6629672-6629688 chr7:6629690-6629706
44	BHLHE40	chr7:6629407-6630083	K562	blood:	n/a	chr7:6629730-6629746 chr7:6629672-6629688 chr7:6629690-6629706 chr7:6629677-6629693
45	BHLHE40	chr7:6677264-6677647	K562	blood:	n/a	chr7:6677407-6677423
46	BHLHE40	chr7:6679587-6679733	GM12878	blood:	n/a	n/a
47	BRCA1	chr7:6652546-6652789	Hela-S3	cervix:	n/a	n/a
48	BRCA1	chr7:6629475-6629612	H1-hESC	embryonic stem cell:	n/a	n/a
49	BRCA1	chr7:6629480-6629658	HepG2	liver:	n/a	n/a
50	BRCA1	chr7:6698867-6699045	H1-hESC	embryonic stem cell:	n/a	n/a

(count:4088 , 50 per page) page: 1 2 3 4 5 6 7 ... 82

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:6676832-6676882	SK-N-MC	brain:	n/a
2	chr7:6676832-6676882	SK-N-MC	brain:	n/a
3	chr7:6692445-6692495	NH-A	brain:	n/a
4	chr7:6676168-6676218	SK-N-SH_RA	brain:	n/a
5	chr7:6666368-6666418	HCPEpiC	choroid plexus:	n/a
6	chr7:6674031-6674081	HNPCEpiC	eye:	n/a
7	chr7:6677265-6677315	AG09319	gingival:	n/a
8	chr7:6677433-6677483	PANC-1	pancreas:	n/a
9	chr7:6666368-6666418	MCF-7	breast:	n/a
10	chr7:6692873-6692923	Hepatocyte	liver:	n/a
11	chr7:6661876-6661926	NH-A	brain:	n/a
12	chr7:6629515-6629565	AG10803	skin:	n/a
13	chr7:6677265-6677315	SKMC	muscle:	n/a
14	chr7:6693030-6693080	K562	blood:	n/a
15	chr7:6676001-6676051	PrEC	prostate:	n/a
16	chr7:6629002-6629052	HepG2	liver:	n/a
17	chr7:6695121-6695171	NB4	blood:	n/a
18	chr7:6647235-6647285	HCPEpiC	choroid plexus:	n/a
19	chr7:6653510-6653560	SKMC	muscle:	n/a
20	chr7:6693030-6693080	BE2_C	brain:	n/a
21	chr7:6676001-6676051	ECC-1	luminal epithelium:	n/a
22	chr7:6689218-6689268	HL-60	blood:	n/a
23	chr7:6682784-6682834	BE2_C	brain:	n/a
24	chr7:6704045-6704095	LNCaP	prostate:	n/a
25	chr7:6674031-6674081	Hepatocyte	liver:	n/a
26	chr7:6703708-6703758	PrEC	prostate:	n/a
27	chr7:6692873-6692923	SKMC	muscle:	n/a
28	chr7:6692873-6692923	MCF10A-Er-Src	breast:	n/a
29	chr7:6689218-6689268	PANC-1	pancreas:	n/a
30	chr7:6644352-6644402	GM12892	blood:	n/a
31	chr7:6704194-6704244	Hela-S3	cervix:	n/a
32	chr7:6629959-6630009	NHDF-neo	bronchial:	n/a
33	chr7:6653510-6653560	ProgFib	skin:	n/a
34	chr7:6693030-6693080	HRCEpiC	kidney:	n/a
35	chr7:6654422-6654472	HRE	kidney:	n/a
36	chr7:6676832-6676882	HCM	heart:	n/a
37	chr7:6698992-6699042	A549	lung:	n/a
38	chr7:6689218-6689268	NHBE	bronchial:	n/a
39	chr7:6692445-6692495	Hela-S3	cervix:	n/a
40	chr7:6644352-6644402	CMK	blood:	n/a
41	chr7:6704074-6704124	Hepatocyte	liver:	n/a
42	chr7:6662789-6662839	Caco-2	colon:	n/a
43	chr7:6704045-6704095	NB4	blood:	n/a
44	chr7:6660095-6660145	H1-hESC	embryonic stem cell:	embryo
45	chr7:6629515-6629565	GM12892	blood:	n/a
46	chr7:6693334-6693384	H1-hESC	embryonic stem cell:	embryo
47	chr7:6704194-6704244	MCF10A-Er-Src	breast:	n/a
48	chr7:6654422-6654472	IMR90	lung:	fetal
49	chr7:6648166-6648216	GM06990	blood:	n/a
50	chr7:6676630-6676680	NHBE	bronchial:	n/a

(count:161 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr7:6644575..6647418-chr7:6652621..6655088,2	K562	blood:
2	chr7:6626891..6631453-chr7:6677284..6679167,4	K562	blood:
3	chr7:6657590..6663602-chr7:6673662..6680073,8	MCF-7	breast:
4	chr7:6641830..6642345-chr7:6698974..6699620,2	MCF-7	breast:
5	chr7:6626891..6631454-chr7:6676260..6679154,6	K562	blood:
6	chr7:6680998..6682837-chr7:6692889..6695214,2	MCF-7	breast:
7	chr7:6522385..6525546-chr7:6675389..6679461,5	MCF-7	breast:
8	chr7:6615687..6618664-chr7:6627812..6632591,8	MCF-7	breast:
9	chr7:6668305..6670110-chr7:6679585..6681865,2	MCF-7	breast:
10	chr7:6683480..6686518-chr7:6689197..6691289,3	MCF-7	breast:
11	chr7:6672567..6674181-chr7:6688854..6690680,2	K562	blood:
12	chr7:6675369..6676975-chr7:6698332..6700533,2	MCF-7	breast:
13	chr7:6615537..6618663-chr7:6638717..6641799,3	K562	blood:
14	chr7:6659549..6661363-chr7:6670073..6672008,2	K562	blood:
15	chr7:6617184..6619983-chr7:6640766..6643695,2	MCF-7	breast:
16	chr7:6676193..6679067-chr7:6744810..6746794,4	K562	blood:
17	chr7:6656631..6659250-chr7:6667009..6671468,4	MCF-7	breast:
18	chr7:6676518..6678447-chr7:6694438..6696514,2	MCF-7	breast:
19	chr7:6681243..6682856-chr7:6746246..6748831,2	K562	blood:
20	chr12:56510812..56512603-chr7:6677169..6678802,2	MCF-7	breast:
21	chr7:6675838..6678415-chr7:6696567..6699140,4	MCF-7	breast:
22	chr7:6659549..6661363-chr7:6670073..6672008,2	K562	blood:
23	chr7:6661901..6664151-chr7:6670252..6671986,3	MCF-7	breast:
24	chr7:6641830..6642345-chr7:6698974..6699620,2	MCF-7	breast:
25	chr7:6656839..6659879-chr7:6661538..6663786,3	K562	blood:
26	chr10:104155341..104155841-chr7:6676464..6677005,2	Hela-S3	cervix:
27	chr7:6627960..6631587-chr7:6636185..6643600,9	MCF-7	breast:
28	chr7:6629922..6631520-chr7:6640486..6642303,2	MCF-7	breast:
29	chr7:6564171..6565673-chr7:6642376..6644316,2	K562	blood:
30	chr7:6682551..6684434-chr7:6694308..6696080,2	MCF-7	breast:
31	chr7:6631417..6634053-chr7:6644555..6647316,2	K562	blood:
32	chr7:6674759..6677679-chr7:6692100..6694240,3	MCF-7	breast:
33	chr7:6675962..6678642-chr7:6744432..6748032,4	MCF-7	breast:
34	chr7:6615800..6617832-chr7:6677563..6680150,2	MCF-7	breast:
35	chr7:6627001..6634994-chr7:6673643..6681623,15	MCF-7	breast:
36	chr7:6655297..6658106-chr7:6659491..6662615,3	K562	blood:
37	chr7:6660564..6662217-chr7:6683757..6686361,2	MCF-7	breast:
38	chr7:6655297..6658106-chr7:6659491..6662615,3	K562	blood:
39	chr7:6680149..6683134-chr7:6689202..6690780,2	K562	blood:
40	chr7:6629079..6630175-chr7:6676992..6678000,4	MCF-7	breast:
41	chr7:6628470..6631345-chr7:6645774..6647666,2	MCF-7	breast:
42	chr7:6687023..6688997-chr7:6745010..6747605,2	K562	blood:
43	chr7:6626891..6631454-chr7:6676260..6679154,6	K562	blood:
44	chr7:6669484..6671433-chr7:6744514..6747927,3	MCF-7	breast:
45	chr7:6629736..6633407-chr7:6648974..6652007,3	MCF-7	breast:
46	chr7:6637338..6640081-chr7:6675258..6678566,5	MCF-7	breast:
47	chr7:6523333..6525416-chr7:6628158..6630053,2	K562	blood:
48	chr7:6629361..6631109-chr7:6633004..6635792,5	MCF-7	breast:
49	chr7:6641239..6643457-chr7:6645179..6647378,2	MCF-7	breast:
50	chr7:6668677..6671566-chr7:6683216..6685538,2	MCF-7	breast:

(count:17 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC073343.1-1	chr7:6704675-6704739	NONHSAT119055
2	lnc-AC073343.1-1	chr7:6703605-6703674	ENSG00000228010.1
3	lnc-AC073343.1-1	chr7:6704675-6704739	ENSG00000228010.1
4	lnc-ZNF853-2	chr7:6670130-6670199	ucscGeneNc_uc003sqr_1
5	lnc-AC073343.1-1	chr7:6704675-6705152	ENSG00000228010.1
6	lnc-AC073343.1-1	chr7:6703605-6703674	ENSG00000228010.1
7	lnc-AC073343.1-1	chr7:6703605-6703674	ENSG00000228010.1
8	lnc-ZNF853-2	chr7:6679361-6680635	ucscGeneNc_uc003sqr_1
9	lnc-AC073343.1-1	chr7:6703605-6703674	NONHSAT119056
10	lnc-GRID2IP-1	chr7:6628988-6629569	NONHSAT119018
11	lnc-GRID2IP-1	chr7:6627741-6628856	NONHSAT119018
12	lnc-AC073343.1-2	chr7:6694495-6696063	ENSG00000260054.1
13	lnc-GRID2IP-1	chr7:6628326-6628605	ENSG00000232581.1
14	lnc-AC073343.1-1	chr7:6703605-6703674	NONHSAT119055
15	lnc-AC073343.1-1	chr7:6704675-6704739	ENSG00000228010.1
16	lnc-AC073343.1-1	chr7:6704675-6705152	NONHSAT119056
17	lnc-ZNF853-2	chr7:6671200-6671264	ucscGeneNc_uc003sqr_1

No data

Variant related genes	Relation type
C7orf26	TF binding region
ENSG00000232581	TF binding region
ZNF316	TF binding region
ENSG00000260054	TF binding region
ENSG00000228010	TF binding region
ZNF853	TF binding region
C7orf26	CpG island
ENSG00000232581	CpG island
ZNF316	CpG island
ENSG00000260054	CpG island
ENSG00000228010	CpG island
ZNF853	CpG island
ENSG00000265692	chromatin interactions
ENSG00000260054	chromatin interactions
ENSG00000236609	chromatin interactions
ENSG00000205903	chromatin interactions
ENSG00000269781	chromatin interactions
ENSG00000139641	chromatin interactions
ENSG00000136240	chromatin interactions
ENSG00000077150	chromatin interactions
ENSG00000136247	chromatin interactions
ENSG00000187953	chromatin interactions
ENSG00000164631	chromatin interactions
ENSG00000198580	chromatin interactions
ENSG00000135482	chromatin interactions
ENSG00000074603	chromatin interactions
ENSG00000228010	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000232581	chromatin interactions
ENSG00000215045	chromatin interactions
ENSG00000146576	chromatin interactions

Extended variants
information (count: 3695 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:3695 , 50 per page) page: 1 2 3 4 5 6 7 ... 74

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73674139	chr7:6628192-6628193	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs73674140	chr7:6628214-6628215	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs536645375	chr7:6628227-6628228	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
4	rs566806865	chr7:6628242-6628243	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
5	rs573970820	chr7:6628244-6628245	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
6	rs534946585	chr7:6628245-6628246	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
7	rs372308448	chr7:6628256-6628257	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
8	rs553106277	chr7:6628262-6628263	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
9	rs190899826	chr7:6628270-6628271	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
10	rs545040011	chr7:6628271-6628272	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
11	rs563230500	chr7:6628287-6628288	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
12	rs575033696	chr7:6628295-6628296	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
13	rs145081908	chr7:6628313-6628314	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
14	rs376629253	chr7:6628323-6628324	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
15	rs542200111	chr7:6628348-6628349	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
16	rs200238814	chr7:6628359-6628360	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
17	rs376906446	chr7:6628370-6628371	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
18	rs151329744	chr7:6628399-6628400	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
19	rs528731551	chr7:6628410-6628411	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
20	rs143017090	chr7:6628418-6628419	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
21	rs369135125	chr7:6628452-6628453	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
22	rs373728026	chr7:6628468-6628469	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
23	rs201393841	chr7:6628469-6628470	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
24	rs147807569	chr7:6628483-6628484	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
25	rs373412465	chr7:6628484-6628485	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
26	rs377407315	chr7:6628490-6628491	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
27	rs532601452	chr7:6628496-6628497	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
28	rs202075979	chr7:6628503-6628504	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
29	rs184132612	chr7:6628514-6628515	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
30	rs141196165	chr7:6628519-6628520	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
31	rs147094358	chr7:6628533-6628534	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
32	rs370270228	chr7:6628578-6628579	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
33	rs569242853	chr7:6628581-6628582	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
34	rs3813514	chr7:6628587-6628588	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
35	rs369818962	chr7:6628588-6628589	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
36	rs112386861	chr7:6628598-6628599	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
37	rs7805414	chr7:6628663-6628664	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
38	rs550001004	chr7:6628681-6628682	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
39	rs552993025	chr7:6628700-6628701	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
40	rs577913682	chr7:6628703-6628704	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
41	rs547619012	chr7:6628725-6628726	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
42	rs538444008	chr7:6628736-6628737	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
43	rs187446501	chr7:6628767-6628768	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
44	rs574971728	chr7:6628817-6628818	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
45	rs542334530	chr7:6628836-6628837	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
46	rs191074188	chr7:6628841-6628842	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
47	rs572515342	chr7:6628853-6628854	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
48	rs540875951	chr7:6628882-6628883	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs150061103	chr7:6628892-6628893	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs113477204	chr7:6628897-6628898	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	21525872	CNVD
Autism	20685689	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian cancer	21781307	CNVD

Chromatin state (count:3746 , 50 per page) page: 1 2 3 4 5 6 7 ... 75

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6617600-6629200	Weak transcription	Small Intestine	intestine
2	chr7:6617600-6629600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:6617600-6629800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr7:6617600-6630000	Weak transcription	Stomach Mucosa	stomach
5	chr7:6617800-6629000	Weak transcription	Right Atrium	heart
6	chr7:6617800-6629200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr7:6618200-6628800	Weak transcription	Fetal Brain Male	brain
8	chr7:6618200-6629000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr7:6618200-6629000	Strong transcription	Brain Cingulate Gyrus	brain
10	chr7:6618200-6629200	Strong transcription	Fetal Intestine Small	intestine
11	chr7:6618400-6628800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:6618400-6628800	Strong transcription	Fetal Muscle Trunk	muscle
13	chr7:6618400-6629000	Strong transcription	Fetal Muscle Leg	muscle
14	chr7:6618400-6629000	Strong transcription	Fetal Thymus	thymus
15	chr7:6618600-6629000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr7:6618600-6629000	Strong transcription	Fetal Stomach	stomach
17	chr7:6618800-6628600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:6618800-6628600	Strong transcription	Liver	Liver
19	chr7:6618800-6629000	Strong transcription	Skeletal Muscle Female	skeletal muscle
20	chr7:6619000-6628600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr7:6619200-6628800	Strong transcription	Fetal Intestine Large	intestine
22	chr7:6619200-6629000	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr7:6619200-6629000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:6619600-6629000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr7:6619800-6628600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:6619800-6628600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr7:6619800-6628800	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr7:6619800-6628800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:6619800-6628800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr7:6619800-6629000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr7:6620000-6628400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr7:6620000-6628600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr7:6620000-6628800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr7:6620000-6628800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr7:6620000-6629000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr7:6620000-6629000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr7:6620000-6629000	Strong transcription	Placenta	Placenta
38	chr7:6620000-6629200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:6620200-6628600	Strong transcription	Adipose Nuclei	Adipose
40	chr7:6620200-6629000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr7:6620200-6629200	Weak transcription	HSMM	muscle
42	chr7:6620800-6629000	Strong transcription	Dnd41	blood
43	chr7:6621200-6628800	Strong transcription	Primary B cells from cord blood	blood
44	chr7:6621800-6629000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr7:6622000-6628200	Weak transcription	Hela-S3	cervix
46	chr7:6622400-6629000	Strong transcription	Primary B cells from peripheral blood	blood
47	chr7:6623400-6629000	Weak transcription	GM12878-XiMat	blood
48	chr7:6623400-6629200	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr7:6623400-6629200	Weak transcription	Psoas Muscle	Psoas
50	chr7:6623400-6629200	Weak transcription	HMEC	breast

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