Variant report

Variant	nsv887436
Chromosome Location	chr7:6626922-6721661
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2840)
CpG islands
(count:4210)
Chromatin interactive
region (count:177)
LncRNA
region (count:23)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2840 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:6629468-6629712	K562	blood:	n/a	n/a
2	ARID3A	chr7:6629531-6629849	HepG2	liver:	n/a	n/a
3	ARID3A	chr7:6680032-6680221	K562	blood:	n/a	n/a
4	ATF1	chr7:6652571-6652812	K562	blood:	n/a	n/a
5	ATF2	chr7:6676670-6676974	GM12878	blood:	n/a	n/a
6	ATF2	chr7:6629394-6629712	GM12878	blood:	n/a	n/a
7	ATF3	chr7:6676729-6677016	HepG2	liver:	n/a	n/a
8	ATF3	chr7:6629344-6630003	A549	lung:	n/a	chr7:6629523-6629532 chr7:6629564-6629584
9	ATF3	chr7:6629337-6629771	A549	lung:	n/a	chr7:6629523-6629532 chr7:6629564-6629584
10	ATF3	chr7:6676663-6677108	GM12878	blood:	n/a	n/a
11	ATF3	chr7:6676775-6677020	GM12878	blood:	n/a	n/a
12	ATF3	chr7:6676764-6677038	K562	blood:	n/a	n/a
13	ATF3	chr7:6679904-6680092	K562	blood:	n/a	n/a
14	BACH1	chr7:6677373-6677430	K562	blood:	n/a	n/a
15	BACH1	chr7:6629362-6630071	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr7:6630335-6630344	K562	blood:	n/a	n/a
17	BACH1	chr7:6676413-6677735	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr7:6676690-6676978	K562	blood:	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	chr7:6676620-6677051	GM12878	blood:	n/a	chr7:6676897-6676906
23	BCL3	chr7:6629789-6630335	A549	lung:	n/a	chr7:6629794-6629807 chr7:6629869-6629878 chr7:6629872-6629881 chr7:6629799-6629812
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	chr7:6662073-6662402	GM12878	blood:	n/a	n/a
26	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
27	BCL3	chr7:6693791-6694049	GM12878	blood:	n/a	n/a
28	BCL3	chr7:6693271-6693492	GM12878	blood:	n/a	n/a
29	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
30	BCLAF1	chr7:6641859-6642232	GM12878	blood:	n/a	n/a
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	chr7:6676612-6677075	GM12878	blood:	n/a	chr7:6676897-6676906
33	BHLHE40	chr7:6679828-6680319	K562	blood:	n/a	n/a
34	BHLHE40	chr7:6698826-6699225	HepG2	liver:	n/a	n/a
35	BHLHE40	chr7:6679587-6679733	GM12878	blood:	n/a	n/a
36	BHLHE40	chr7:6641910-6642137	K562	blood:	n/a	n/a
37	BHLHE40	chr7:6676722-6677023	K562	blood:	n/a	n/a
38	BHLHE40	chr7:6663730-6663805	GM12878	blood:	n/a	n/a
39	BHLHE40	chr7:6698832-6699007	K562	blood:	n/a	n/a
40	BHLHE40	chr7:6629403-6629935	GM12878	blood:	n/a	chr7:6629730-6629746 chr7:6629677-6629693 chr7:6629672-6629688 chr7:6629690-6629706
41	BHLHE40	chr7:6677264-6677647	K562	blood:	n/a	chr7:6677407-6677423
42	BHLHE40	chr7:6676643-6677601	GM12878	blood:	n/a	chr7:6677407-6677423
43	BHLHE40	chr7:6685656-6685802	K562	blood:	n/a	n/a
44	BHLHE40	chr7:6629407-6630083	K562	blood:	n/a	chr7:6629730-6629746 chr7:6629672-6629688 chr7:6629690-6629706 chr7:6629677-6629693
45	BHLHE40	chr7:6676405-6676427	K562	blood:	n/a	n/a
46	BHLHE40	chr7:6629402-6629797	HepG2	liver:	n/a	chr7:6629730-6629746 chr7:6629677-6629693 chr7:6629672-6629688 chr7:6629690-6629706
47	BRCA1	chr7:6629475-6629612	H1-hESC	embryonic stem cell:	n/a	n/a
48	BRCA1	chr7:6652546-6652789	Hela-S3	cervix:	n/a	n/a
49	BRCA1	chr7:6629568-6629656	Hela-S3	cervix:	n/a	n/a
50	BRCA1	chr7:6629480-6629658	HepG2	liver:	n/a	n/a

(count:4210 , 50 per page) page: 1 2 3 4 5 6 7 ... 85

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:6646162-6646212	GM12878	blood:	n/a
2	chr7:6646162-6646212	GM12878	blood:	n/a
3	chr7:6661876-6661926	HEEpiC	esophagus:	n/a
4	chr7:6704074-6704124	LNCaP	prostate:	n/a
5	chr7:6681379-6681429	Caco-2	colon:	n/a
6	chr7:6693838-6693888	AoSMC	blood vessel:	n/a
7	chr7:6677433-6677483	HUVEC	blood vessel:	n/a
8	chr7:6661876-6661926	HRE	kidney:	n/a
9	chr7:6626877-6626927	T-47D	breast:	n/a
10	chr7:6648166-6648216	HRE	kidney:	n/a
11	chr7:6632532-6632582	AG04450	lung:	fetal
12	chr7:6629515-6629565	PFSK-1	brain:	n/a
13	chr7:6666368-6666418	PFSK-1	brain:	n/a
14	chr7:6629806-6629856	GM06990	blood:	n/a
15	chr7:6654880-6654930	HepG2	liver:	n/a
16	chr7:6676832-6676882	NT2-D1	testis:	n/a
17	chr7:6662685-6662735	GM12878	blood:	n/a
18	chr7:6655973-6656023	AG10803	skin:	n/a
19	chr7:6646162-6646212	SK-N-SH	brain:	n/a
20	chr7:6631520-6631570	GM12878	blood:	n/a
21	chr7:6661876-6661926	GM12878	blood:	n/a
22	chr7:6626877-6626927	BE2_C	brain:	n/a
23	chr7:6661804-6661854	AG04449	skin:	fetal
24	chr7:6666368-6666418	HCT-116	colon:	n/a
25	chr7:6704194-6704244	HUVEC	blood vessel:	n/a
26	chr7:6682784-6682834	SK-N-MC	brain:	n/a
27	chr7:6653510-6653560	HRCEpiC	kidney:	n/a
28	chr7:6644352-6644402	MCF-7	breast:	n/a
29	chr7:6703803-6703853	ProgFib	skin:	n/a
30	chr7:6654880-6654930	AoSMC	blood vessel:	n/a
31	chr7:6676001-6676051	HIPEpiC	eye:	n/a
32	chr7:6662789-6662839	IMR90	lung:	fetal
33	chr7:6666368-6666418	HCM	heart:	n/a
34	chr7:6695121-6695171	NHDF-neo	bronchial:	n/a
35	chr7:6629806-6629856	T-47D	breast:	n/a
36	chr7:6654422-6654472	SKMC	muscle:	n/a
37	chr7:6703708-6703758	NHDF-neo	bronchial:	n/a
38	chr7:6655834-6655884	HCPEpiC	choroid plexus:	n/a
39	chr7:6629515-6629565	AG09309	skin:	n/a
40	chr7:6682784-6682834	K562	blood:	n/a
41	chr7:6693334-6693384	ovcar-3	ovarian:	n/a
42	chr7:6695121-6695171	Hepatocyte	liver:	n/a
43	chr7:6682784-6682834	Hepatocyte	liver:	n/a
44	chr7:6629959-6630009	NH-A	brain:	n/a
45	chr7:6676784-6676834	SK-N-SH	brain:	n/a
46	chr7:6655711-6655761	Caco-2	colon:	n/a
47	chr7:6695092-6695142	GM12892	blood:	n/a
48	chr7:6626877-6626927	SK-N-SH	brain:	n/a
49	chr7:6644352-6644402	HMEC	breast:	n/a
50	chr7:6680085-6680135	HEEpiC	esophagus:	n/a

(count:177 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr7:6649329..6651399-chr7:6652543..6654507,2	MCF-7	breast:
2	chr7:6669484..6671433-chr7:6744514..6747927,3	MCF-7	breast:
3	chr7:6720927..6723913-chr7:6737715..6740062,2	K562	blood:
4	chr7:6521808..6524278-chr7:6666674..6668575,2	K562	blood:
5	chr7:6630176..6632392-chr7:6634480..6637119,2	K562	blood:
6	chr7:6668744..6673941-chr7:6674951..6679228,16	MCF-7	breast:
7	chr7:6629361..6631109-chr7:6633004..6635792,5	MCF-7	breast:
8	chr7:6676518..6678447-chr7:6694438..6696514,2	MCF-7	breast:
9	chr7:6672567..6674181-chr7:6688854..6690680,2	K562	blood:
10	chr7:6713296..6716134-chr7:6731301..6732830,2	MCF-7	breast:
11	chr7:6628608..6631556-chr7:6632692..6634274,2	K562	blood:
12	chr7:6628194..6631157-chr7:6744707..6746398,2	MCF-7	breast:
13	chr7:6681267..6684799-chr7:6697447..6700610,3	MCF-7	breast:
14	chr7:6688371..6689911-chr7:6696909..6698726,2	K562	blood:
15	chr7:6668677..6671566-chr7:6683216..6685538,2	MCF-7	breast:
16	chr7:6675427..6681659-chr7:6684293..6688490,10	MCF-7	breast:
17	chr7:6685863..6688294-chr7:6688920..6690681,2	MCF-7	breast:
18	chr7:6672567..6674181-chr7:6688854..6690680,2	K562	blood:
19	chr7:6036554..6037500-chr7:6641616..6642526,2	K562	blood:
20	chr7:6661077..6664696-chr7:6667812..6669863,3	MCF-7	breast:
21	chr7:6655297..6658106-chr7:6659491..6662615,3	K562	blood:
22	chr7:6661901..6664151-chr7:6670252..6671986,3	MCF-7	breast:
23	chr7:6685863..6688294-chr7:6688920..6690681,2	MCF-7	breast:
24	chr7:6630383..6633367-chr7:6634117..6636987,2	K562	blood:
25	chr7:6659549..6661363-chr7:6670073..6672008,2	K562	blood:
26	chr7:6660007..6662837-chr7:6675219..6677958,3	K562	blood:
27	chr7:6681243..6682856-chr7:6746246..6748831,2	K562	blood:
28	chr7:6628381..6630478-chr7:6640566..6643979,5	K562	blood:
29	chr7:6644575..6647418-chr7:6652621..6655088,2	K562	blood:
30	chr7:6674209..6679608-chr7:6682918..6689628,9	K562	blood:
31	chr7:6650218..6651893-chr7:6687593..6690254,2	K562	blood:
32	chr7:6654514..6658630-chr7:6675114..6678876,5	MCF-7	breast:
33	chr7:6642889..6644508-chr7:6654315..6656545,2	MCF-7	breast:
34	chr7:6632840..6635452-chr7:6636875..6640304,4	K562	blood:
35	chr7:6720927..6724330-chr7:6736281..6739215,3	K562	blood:
36	chr7:6659409..6665689-chr7:6670317..6679304,11	MCF-7	breast:
37	chr7:6564171..6565673-chr7:6642376..6644316,2	K562	blood:
38	chr7:6627001..6634994-chr7:6673643..6681623,15	MCF-7	breast:
39	chr7:6682112..6684474-chr7:6686272..6690280,3	MCF-7	breast:
40	chr7:6715429..6717492-chr7:6718379..6720782,3	K562	blood:
41	chr7:6668305..6670110-chr7:6679585..6681865,2	MCF-7	breast:
42	chr7:6687023..6688997-chr7:6745010..6747605,2	K562	blood:
43	chr7:6675369..6676975-chr7:6698332..6700533,2	MCF-7	breast:
44	chr7:6683480..6686518-chr7:6689197..6691289,3	MCF-7	breast:
45	chr7:6615537..6618663-chr7:6638717..6641799,3	K562	blood:
46	chr7:6698325..6700210-chr7:6703299..6704869,2	MCF-7	breast:
47	chr7:6631417..6634053-chr7:6644555..6647316,2	K562	blood:
48	chr7:6628726..6630315-chr7:6654459..6656349,2	MCF-7	breast:
49	chr7:6668305..6670110-chr7:6679585..6681865,2	MCF-7	breast:
50	chr7:6641654..6643210-chr7:6674814..6676517,2	MCF-7	breast:

(count:23 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC073343.1-1	chr7:6712836-6714110	NONHSAT119055
2	lnc-AC073343.1-1	chr7:6703605-6703674	NONHSAT119056
3	lnc-AC073343.1-1	chr7:6704675-6704739	NONHSAT119055
4	lnc-C7orf26-1	chr7:6627278-6627705	NONHSAT119009
5	lnc-GRID2IP-1	chr7:6628326-6628605	ENSG00000232581.1
6	lnc-AC073343.1-2	chr7:6694495-6696063	ENSG00000260054.1
7	lnc-AC073343.1-1	chr7:6703605-6703674	ENSG00000228010.1
8	lnc-AC073343.1-1	chr7:6712836-6713398	NONHSAT119056
9	lnc-GRID2IP-1	chr7:6627741-6628856	NONHSAT119018
10	lnc-AC073343.1-1	chr7:6704675-6705152	NONHSAT119056
11	lnc-AC073343.1-1	chr7:6712836-6713232	ENSG00000228010.1
12	lnc-AC073343.1-1	chr7:6703605-6703674	NONHSAT119055
13	lnc-ZNF853-2	chr7:6671200-6671264	ucscGeneNc_uc003sqr_1
14	lnc-GRID2IP-1	chr7:6628988-6629569	NONHSAT119018
15	lnc-ZNF12-1	chr7:6708412-6708689	expReg_chr7_763_-
16	lnc-ZNF853-2	chr7:6670130-6670199	ucscGeneNc_uc003sqr_1
17	lnc-AC073343.1-1	chr7:6703605-6703674	ENSG00000228010.1
18	lnc-AC073343.1-3	chr7:6717086-6718009	NONHSAT119057
19	lnc-ZNF853-2	chr7:6679361-6680635	ucscGeneNc_uc003sqr_1
20	lnc-AC073343.1-1	chr7:6704675-6704739	ENSG00000228010.1
21	lnc-AC073343.1-1	chr7:6704675-6705152	ENSG00000228010.1
22	lnc-AC073343.1-1	chr7:6704675-6704739	ENSG00000228010.1
23	lnc-AC073343.1-1	chr7:6703605-6703674	ENSG00000228010.1

No data

Variant related genes	Relation type
C7orf26	TF binding region
ZNF853	TF binding region
ENSG00000198580	TF binding region
ENSG00000232581	TF binding region
ZNF316	TF binding region
ENSG00000260054	TF binding region
ENSG00000228010	TF binding region
C7orf26	CpG island
ZNF853	CpG island
ENSG00000198580	CpG island
ENSG00000232581	CpG island
ZNF316	CpG island
ENSG00000260054	CpG island
ENSG00000228010	CpG island
ENSG00000074603	chromatin interactions
ENSG00000260054	chromatin interactions
ENSG00000146576	chromatin interactions
ENSG00000265245	chromatin interactions
ENSG00000228010	chromatin interactions
ENSG00000269781	chromatin interactions
ENSG00000265692	chromatin interactions
ENSG00000232581	chromatin interactions
ENSG00000215045	chromatin interactions
ENSG00000139641	chromatin interactions
ENSG00000187953	chromatin interactions
ENSG00000205903	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000198580	chromatin interactions
ENSG00000136240	chromatin interactions
ENSG00000164631	chromatin interactions
ENSG00000236609	chromatin interactions
ENSG00000135482	chromatin interactions
ENSG00000136247	chromatin interactions
ENSG00000077150	chromatin interactions

Extended variants
information (count: 4824 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:4824 , 50 per page) page: 1 2 3 4 5 6 7 ... 97

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28541711	chr7:6626922-6626923	Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs561890152	chr7:6626934-6626935	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs528970429	chr7:6626942-6626943	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs547533014	chr7:6626954-6626955	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs184514258	chr7:6626999-6627000	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs372754688	chr7:6627034-6627035	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs375686720	chr7:6627048-6627049	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs532948307	chr7:6627068-6627069	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs189250938	chr7:6627070-6627071	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs570321288	chr7:6627071-6627072	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs148114690	chr7:6627197-6627198	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs77466316	chr7:6627208-6627209	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs143939119	chr7:6627240-6627241	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs182515918	chr7:6627286-6627287	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
15	rs553053614	chr7:6627292-6627293	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
16	rs35814548	chr7:6627304-6627305	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
17	rs184159144	chr7:6627318-6627319	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
18	rs561426371	chr7:6627344-6627345	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
19	rs146531881	chr7:6627362-6627363	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
20	rs576263221	chr7:6627379-6627380	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
21	rs138863488	chr7:6627416-6627417	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
22	rs375493113	chr7:6627420-6627421	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
23	rs561833206	chr7:6627436-6627437	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
24	rs368397185	chr7:6627454-6627455	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
25	rs538145270	chr7:6627458-6627459	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
26	rs142795314	chr7:6627489-6627490	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
27	rs13437804	chr7:6627493-6627494	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs150804598	chr7:6627497-6627498	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
29	rs551343809	chr7:6627535-6627536	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
30	rs7804036	chr7:6627555-6627556	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs189536864	chr7:6627556-6627557	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
32	rs10230366	chr7:6627560-6627561	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs7781743	chr7:6627572-6627573	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs532363659	chr7:6627578-6627579	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
35	rs534882157	chr7:6627585-6627586	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
36	rs143846006	chr7:6627586-6627587	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
37	rs181087387	chr7:6627635-6627636	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
38	rs374756069	chr7:6627644-6627645	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
39	rs538784397	chr7:6627715-6627716	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs557294775	chr7:6627717-6627718	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs377371951	chr7:6627775-6627776	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
42	rs543701714	chr7:6627787-6627788	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
43	rs200722469	chr7:6627791-6627792	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
44	rs555703676	chr7:6627792-6627793	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
45	rs143309575	chr7:6627798-6627799	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
46	rs186591134	chr7:6627822-6627823	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
47	rs190404505	chr7:6627831-6627832	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
48	rs529674167	chr7:6627832-6627833	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
49	rs577647599	chr7:6627854-6627855	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
50	rs7800917	chr7:6627943-6627944	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:79)

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
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:3909 , 50 per page) page: 1 2 3 4 5 6 7 ... 79

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	chr7:6619000-6627000	Strong transcription	Brain Inferior Temporal Lobe	brain
21	chr7:6619000-6628600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr7:6619200-6628800	Strong transcription	Fetal Intestine Large	intestine
23	chr7:6619200-6629000	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr7:6619200-6629000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:6619600-6629000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr7:6619800-6627400	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr7:6619800-6628600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:6619800-6628600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr7:6619800-6628800	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr7:6619800-6628800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr7:6619800-6628800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr7:6619800-6629000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr7:6620000-6627200	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr7:6620000-6627400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr7:6620000-6628400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr7:6620000-6628600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr7:6620000-6628800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr7:6620000-6628800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr7:6620000-6629000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr7:6620000-6629000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr7:6620000-6629000	Strong transcription	Placenta	Placenta
42	chr7:6620000-6629200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:6620200-6627000	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr7:6620200-6627000	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr7:6620200-6627000	Strong transcription	Fetal Brain Female	brain
46	chr7:6620200-6627200	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr7:6620200-6627400	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr7:6620200-6628600	Strong transcription	Adipose Nuclei	Adipose
49	chr7:6620200-6629000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr7:6620200-6629200	Weak transcription	HSMM	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links