Variant report

Variant	esv1793037
Chromosome Location	chr7:105137305-105167132
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:747)
CpG islands
(count:1039)
Chromatin interactive
region (count:72)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:747 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:105162532-105162842	HepG2	liver:	n/a	n/a
2	ARID3A	chr7:105162675-105163137	K562	blood:	n/a	n/a
3	ARID3A	chr7:105141763-105141769	K562	blood:	n/a	n/a
4	ATF2	chr7:105162441-105162701	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF3	chr7:105162419-105162922	K562	blood:	n/a	chr7:105162516-105162525
6	ATF3	chr7:105162479-105162756	A549	lung:	n/a	chr7:105162516-105162525
7	BACH1	chr7:105162629-105162935	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr7:105161884-105162223	H1-hESC	embryonic stem cell:	n/a	n/a
9	BCL3	chr7:105162453-105163079	A549	lung:	n/a	chr7:105162468-105162481 chr7:105162470-105162483
10	BCLAF1	chr7:105162157-105163019	K562	blood:	n/a	chr7:105162468-105162481 chr7:105162470-105162483
11	BHLHE40	chr7:105161948-105162953	HepG2	liver:	n/a	n/a
12	BHLHE40	chr7:105162517-105162823	A549	lung:	n/a	n/a
13	BHLHE40	chr7:105161582-105163259	GM12878	blood:	n/a	n/a
14	BHLHE40	chr7:105161610-105163105	K562	blood:	n/a	n/a
15	BHLHE40	chr7:105162519-105162872	HepG2	liver:	n/a	n/a
16	BRCA1	chr7:105161980-105162068	HepG2	liver:	n/a	n/a
17	BRCA1	chr7:105162680-105163061	Hela-S3	cervix:	n/a	n/a
18	CBX3	chr7:105162379-105163324	K562	blood:	n/a	n/a
19	CBX3	chr7:105161068-105162276	K562	blood:	n/a	n/a
20	CBX3	chr7:105161716-105162247	K562	blood:	n/a	n/a
21	CCNT2	chr7:105161929-105162925	K562	blood:	n/a	n/a
22	CEBPB	chr7:105161508-105161638	K562	blood:	n/a	n/a
23	CEBPB	chr7:105162520-105163052	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr7:105155239-105155441	IMR90	lung:	n/a	n/a
25	CEBPB	chr7:105161176-105161715	HepG2	liver:	n/a	n/a
26	CEBPB	chr7:105162902-105163102	H1-hESC	embryonic stem cell:	n/a	n/a
27	CEBPB	chr7:105162864-105163023	K562	blood:	n/a	n/a
28	CEBPB	chr7:105155253-105155412	K562	blood:	n/a	n/a
29	CEBPB	chr7:105158429-105158574	K562	blood:	n/a	n/a
30	CEBPB	chr7:105155188-105155365	H1-hESC	embryonic stem cell:	n/a	n/a
31	CEBPD	chr7:105162498-105162799	HepG2	liver:	n/a	n/a
32	CEBPD	chr7:105162390-105162874	HepG2	liver:	n/a	n/a
33	CEBPD	chr7:105161796-105162088	HepG2	liver:	n/a	n/a
34	CEBPD	chr7:105161926-105162999	K562	blood:	n/a	n/a
35	CHD1	chr7:105161623-105162050	GM12878	blood:	n/a	n/a
36	CHD1	chr7:105162764-105163049	GM12878	blood:	n/a	n/a
37	CHD1	chr7:105161539-105162631	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD2	chr7:105161777-105161979	HepG2	liver:	n/a	n/a
39	CHD2	chr7:105161918-105163033	K562	blood:	n/a	n/a
40	CHD2	chr7:105162556-105163139	GM12878	blood:	n/a	n/a
41	CHD2	chr7:105162369-105162482	HepG2	liver:	n/a	n/a
42	CHD2	chr7:105162343-105162950	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD2	chr7:105161632-105162268	GM12878	blood:	n/a	n/a
44	CHD2	chr7:105161819-105162990	Hela-S3	cervix:	n/a	n/a
45	CREB1	chr7:105162584-105162825	A549	lung:	n/a	n/a
46	CREB1	chr7:105161625-105163171	HepG2	liver:	n/a	n/a
47	CREB1	chr7:105162133-105162928	A549	lung:	n/a	n/a
48	CREB1	chr7:105152877-105153111	A549	lung:	n/a	n/a
49	CREB1	chr7:105161701-105163437	K562	blood:	n/a	n/a
50	CTCF	chr7:105162841-105162850	K562	blood:	n/a	n/a

(count:1039 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:105162600-105162650	SK-N-SH_RA	brain:	n/a
2	chr7:105160482-105160532	HMEC	breast:	n/a
3	chr7:105162600-105162650	SK-N-SH_RA	brain:	n/a
4	chr7:105160482-105160532	HMEC	breast:	n/a
5	chr7:105162888-105162938	HNPCEpiC	eye:	n/a
6	chr7:105162878-105162928	HCPEpiC	choroid plexus:	n/a
7	chr7:105162878-105162928	PFSK-1	brain:	n/a
8	chr7:105162888-105162938	HAEpiC	amniotic membrane:	n/a
9	chr7:105161983-105162033	NH-A	brain:	n/a
10	chr7:105162878-105162928	IMR90	lung:	fetal
11	chr7:105162859-105162909	SAEC	small airway:	n/a
12	chr7:105162761-105162811	IMR90	lung:	fetal
13	chr7:105162859-105162909	HIPEpiC	eye:	n/a
14	chr7:105162878-105162928	HRCEpiC	kidney:	n/a
15	chr7:105162814-105162864	SK-N-SH_RA	brain:	n/a
16	chr7:105161983-105162033	AoSMC	blood vessel:	n/a
17	chr7:105162941-105162991	Caco-2	colon:	n/a
18	chr7:105162600-105162650	AG09319	gingival:	n/a
19	chr7:105162735-105162785	NHDF-neo	bronchial:	n/a
20	chr7:105163736-105163786	HRCEpiC	kidney:	n/a
21	chr7:105162600-105162650	GM06990	blood:	n/a
22	chr7:105137683-105137733	AG10803	skin:	n/a
23	chr7:105162600-105162650	LNCaP	prostate:	n/a
24	chr7:105162878-105162928	H1-hESC	embryonic stem cell:	embryo
25	chr7:105162761-105162811	HIPEpiC	eye:	n/a
26	chr7:105158109-105158159	AG09309	skin:	n/a
27	chr7:105162577-105162627	HNPCEpiC	eye:	n/a
28	chr7:105162855-105162905	BE2_C	brain:	n/a
29	chr7:105162814-105162864	NHDF-neo	bronchial:	n/a
30	chr7:105162814-105162864	H1-hESC	embryonic stem cell:	embryo
31	chr7:105162888-105162938	Caco-2	colon:	n/a
32	chr7:105162878-105162928	HepG2	liver:	n/a
33	chr7:105160482-105160532	GM19239	blood:	n/a
34	chr7:105163736-105163786	Hepatocyte	liver:	n/a
35	chr7:105137683-105137733	LNCaP	prostate:	n/a
36	chr7:105162859-105162909	HCPEpiC	choroid plexus:	n/a
37	chr7:105158109-105158159	HCM	heart:	n/a
38	chr7:105161983-105162033	NHBE	bronchial:	n/a
39	chr7:105162859-105162909	HRE	kidney:	n/a
40	chr7:105162878-105162928	BJ	skin:	n/a
41	chr7:105162888-105162938	HIPEpiC	eye:	n/a
42	chr7:105162761-105162811	GM19239	blood:	n/a
43	chr7:105162470-105162520	SK-N-MC	brain:	n/a
44	chr7:105162577-105162627	RPTEC	kidney:	n/a
45	chr7:105162888-105162938	HMEC	breast:	n/a
46	chr7:105162735-105162785	CMK	blood:	n/a
47	chr7:105162577-105162627	HMEC	breast:	n/a
48	chr7:105162878-105162928	SK-N-MC	brain:	n/a
49	chr7:105162600-105162650	A549	lung:	n/a
50	chr7:105160482-105160532	NH-A	brain:	n/a

(count:72 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:104653054..104655993-chr7:105161169..105164095,3	MCF-7	breast:
2	chr7:105141175..105142796-chr7:105145360..105147513,2	MCF-7	breast:
3	chr1:209957159..209957989-chr7:105162027..105162579,2	Hela-S3	cervix:
4	chr7:105148472..105150405-chr7:105160556..105162918,2	MCF-7	breast:
5	chr19:1261170..1262083-chr7:105162048..105162685,2	Hela-S3	cervix:
6	chr7:105027746..105030082-chr7:105160759..105163665,5	MCF-7	breast:
7	chr7:105139662..105141341-chr7:105152826..105155555,3	K562	blood:
8	chr7:105164878..105167399-chrX:150160313..150162804,2	MCF-7	breast:
9	chr17:33914164..33914765-chr7:105161584..105162384,2	Hela-S3	cervix:
10	chr7:105162459..105163197-chr7:105172183..105173025,3	MCF-7	breast:
11	chr7:105143860..105146568-chr7:105160476..105162753,4	K562	blood:
12	chr1:156698268..156698938-chr7:105162358..105162859,2	Hela-S3	cervix:
13	chr7:105159598..105163989-chr7:105219696..105223115,7	MCF-7	breast:
14	chr7:105126748..105128626-chr7:105155718..105158086,2	K562	blood:
15	chr17:41465807..41466363-chr7:105162224..105162878,2	NB4	blood:
16	chr7:105143860..105147794-chr7:105158802..105162576,5	K562	blood:
17	chr7:105152955..105155476-chr7:105155749..105158829,5	K562	blood:
18	chr7:105129866..105132116-chr7:105135974..105138549,2	K562	blood:
19	chr7:105151835..105158861-chr7:105160122..105163792,12	MCF-7	breast:
20	chr7:105155835..105159600-chr7:105160458..105163837,6	MCF-7	breast:
21	chr17:56708735..56709467-chr7:105162240..105162879,2	MCF-7	breast:
22	chr7:104772977..104775390-chr7:105160456..105162601,2	K562	blood:
23	chr7:105162283..105162894-chr7:105172462..105173034,2	NB4	blood:
24	chr7:105162077..105162858-chr7:105172193..105173344,3	MCF-7	breast:
25	chr7:105134519..105138273-chr7:105140684..105142940,4	K562	blood:
26	chr7:105139662..105141341-chr7:105152826..105155555,3	K562	blood:
27	chr7:104653438..104655052-chr7:105156845..105159544,2	K562	blood:
28	chr7:105161098..105164204-chr7:105164483..105168107,5	MCF-7	breast:
29	chr7:105165463..105169628-chr7:105170973..105174351,5	MCF-7	breast:
30	chr19:55628556..55629065-chr7:105162615..105163265,2	Hela-S3	cervix:
31	chr7:105162231..105163027-chr7:105172004..105172750,2	K562	blood:
32	chr7:105148994..105150495-chr7:105172517..105174104,2	MCF-7	breast:
33	chr7:105125271..105127106-chr7:105136833..105138910,2	K562	blood:
34	chr7:105141175..105142796-chr7:105145360..105147513,2	MCF-7	breast:
35	chr7:105143576..105146396-chr7:105147042..105149947,3	K562	blood:
36	chr7:105158727..105165017-chr7:105166972..105176993,56	K562	blood:
37	chr6:96969151..96969942-chr7:105161938..105162970,3	Hela-S3	cervix:
38	chr7:105026529..105029377-chr7:105162488..105165118,2	MCF-7	breast:
39	chr7:105139514..105141337-chr7:105172365..105174838,2	K562	blood:
40	chr7:105143706..105147161-chr7:105171378..105174621,4	K562	blood:
41	chr7:105139311..105141593-chr7:105161601..105163492,2	K562	blood:
42	chr7:105140985..105143756-chr7:105161298..105163196,2	K562	blood:
43	chr7:105158727..105165017-chr7:105166972..105176993,56	K562	blood:
44	chr7:105160926..105162522-chr7:105329627..105332211,2	K562	blood:
45	chr7:105136272..105139151-chr7:105160934..105162836,3	MCF-7	breast:
46	chr7:105152955..105155476-chr7:105155749..105158829,5	K562	blood:
47	chr7:105148185..105149870-chr7:105160014..105161672,2	K562	blood:
48	chr7:105139837..105141467-chr7:105172365..105173927,2	K562	blood:
49	chr7:105155451..105157293-chr7:105221576..105223932,2	K562	blood:
50	chr7:104651944..104654760-chr7:105154090..105156667,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000223886	TF binding region
PUS7	TF binding region
ENSG00000223886	CpG island
PUS7	CpG island
ENSG00000228393	chromatin interactions
ENSG00000099622	chromatin interactions
ENSG00000135249	chromatin interactions
ENSG00000014123	chromatin interactions
ENSG00000091127	chromatin interactions
ENSG00000233797	chromatin interactions
ENSG00000185055	chromatin interactions
ENSG00000072210	chromatin interactions
ENSG00000230508	chromatin interactions
ENSG00000143303	chromatin interactions
ENSG00000125503	chromatin interactions
ENSG00000128536	chromatin interactions
ENSG00000237310	chromatin interactions
ENSG00000135250	chromatin interactions
ENSG00000162757	chromatin interactions
ENSG00000223473	chromatin interactions
ENSG00000231167	chromatin interactions
ENSG00000150753	chromatin interactions
ENSG00000150756	chromatin interactions
ENSG00000143319	chromatin interactions
ENSG00000006125	chromatin interactions
ENSG00000005483	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000223886	chromatin interactions
ENSG00000146776	chromatin interactions
ENSG00000239569	chromatin interactions

Extended variants
information (count: 1334 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:1334 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149576562	chr7:105137341-105137342	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs550099287	chr7:105137360-105137361	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs569822112	chr7:105137374-105137375	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs532435425	chr7:105137406-105137407	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs552374333	chr7:105137422-105137423	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs565911674	chr7:105137478-105137479	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs535360926	chr7:105137554-105137555	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs554955816	chr7:105137555-105137556	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs567301147	chr7:105137560-105137561	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs535874323	chr7:105137564-105137565	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs75996276	chr7:105137575-105137576	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs369772390	chr7:105137683-105137684	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs112648697	chr7:105137684-105137685	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs575798774	chr7:105137689-105137690	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs567102196	chr7:105137695-105137696	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs112126002	chr7:105137704-105137705	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs549202480	chr7:105137762-105137763	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs558818181	chr7:105137859-105137860	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs140679141	chr7:105137878-105137879	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs541361866	chr7:105137910-105137911	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs561025553	chr7:105137944-105137945	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs183061066	chr7:105137990-105137991	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs543466103	chr7:105138036-105138037	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs566113502	chr7:105138063-105138064	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs534665906	chr7:105138078-105138079	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs544337881	chr7:105138080-105138081	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs532497580	chr7:105138083-105138084	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs373555639	chr7:105138094-105138095	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs144948830	chr7:105138125-105138126	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs528675957	chr7:105138200-105138201	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs75158557	chr7:105138230-105138231	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs76807346	chr7:105138231-105138232	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs556219962	chr7:105138272-105138273	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs558434226	chr7:105138303-105138304	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs537718932	chr7:105138314-105138315	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs80103505	chr7:105138376-105138377	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs569649824	chr7:105138386-105138387	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs35837950	chr7:105138418-105138419	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs574541755	chr7:105138473-105138474	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs77714439	chr7:105138485-105138486	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs148569419	chr7:105138527-105138528	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs572058245	chr7:105138570-105138571	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs542199164	chr7:105138584-105138585	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs560245788	chr7:105138592-105138593	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs534525180	chr7:105138594-105138595	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs115661690	chr7:105138629-105138630	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs118109670	chr7:105138634-105138635	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs546148831	chr7:105138643-105138644	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs187804283	chr7:105138650-105138651	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs563375004	chr7:105138653-105138654	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Prostate cancer	18632612	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	16573809	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1145 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:105080000-105161200	Weak transcription	Pancreas	Pancrea
2	chr7:105088200-105142600	Weak transcription	Esophagus	oesophagus
3	chr7:105088200-105152800	Weak transcription	Gastric	stomach
4	chr7:105088400-105140400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr7:105089200-105142600	Weak transcription	Fetal Thymus	thymus
6	chr7:105089600-105145200	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr7:105089600-105145800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr7:105093600-105153000	Weak transcription	Small Intestine	intestine
9	chr7:105095200-105140600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr7:105095200-105142600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:105096000-105141000	Weak transcription	Colonic Mucosa	Colon
12	chr7:105096400-105145600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr7:105098200-105151200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr7:105099800-105153000	Weak transcription	Psoas Muscle	Psoas
15	chr7:105100000-105141800	Weak transcription	Placenta	Placenta
16	chr7:105102400-105140800	Weak transcription	Right Ventricle	heart
17	chr7:105114400-105140400	Weak transcription	Adipose Nuclei	Adipose
18	chr7:105122600-105138800	Weak transcription	Primary T cells from cord blood	blood
19	chr7:105122800-105141200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr7:105123200-105151200	Weak transcription	Brain Germinal Matrix	brain
21	chr7:105124400-105161800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr7:105127000-105140400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr7:105127200-105138800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr7:105127200-105140200	Weak transcription	Fetal Brain Female	brain
25	chr7:105127200-105140600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr7:105127200-105140800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:105127200-105148400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr7:105127400-105138800	Weak transcription	Fetal Muscle Trunk	muscle
29	chr7:105127400-105139200	Weak transcription	Left Ventricle	heart
30	chr7:105127400-105140200	Weak transcription	Liver	Liver
31	chr7:105127400-105140200	Weak transcription	Fetal Stomach	stomach
32	chr7:105127400-105140400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr7:105127400-105140800	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr7:105127400-105141000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr7:105127400-105142600	Weak transcription	Lung	lung
36	chr7:105128200-105137400	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr7:105128600-105140400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr7:105128600-105140400	Weak transcription	Ovary	ovary
39	chr7:105128600-105140600	Weak transcription	Primary B cells from cord blood	blood
40	chr7:105128600-105142600	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr7:105128600-105148400	Weak transcription	Primary B cells from peripheral blood	blood
42	chr7:105128600-105161200	Weak transcription	Brain Hippocampus Middle	brain
43	chr7:105128600-105161600	Weak transcription	Brain Substantia Nigra	brain
44	chr7:105128800-105140200	Weak transcription	Fetal Brain Male	brain
45	chr7:105128800-105140200	Weak transcription	Fetal Intestine Large	intestine
46	chr7:105128800-105140200	Weak transcription	Fetal Intestine Small	intestine
47	chr7:105128800-105140800	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr7:105128800-105142400	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr7:105128800-105143600	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr7:105128800-105144800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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