Variant report

Variant	nsv525347
Chromosome Location	chr6:26313348-26322985
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1068)
CpG islands
(count:305)
Chromatin interactive
region (count:28)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1068 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:26322814-26323512	K562	blood:	n/a	n/a
2	ARID3A	chr6:26322150-26323650	HepG2	liver:	n/a	n/a
3	ARID3A	chr6:26311239-26313923	HepG2	liver:	n/a	n/a
4	ARID3A	chr6:26312715-26313880	K562	blood:	n/a	n/a
5	ARID3A	chr6:26321345-26321501	K562	blood:	n/a	n/a
6	ARID3A	chr6:26319025-26319927	K562	blood:	n/a	n/a
7	ARID3A	chr6:26320764-26320797	K562	blood:	n/a	n/a
8	ARID3A	chr6:26322193-26322540	K562	blood:	n/a	n/a
9	ATF1	chr6:26312762-26313541	K562	blood:	n/a	n/a
10	ATF1	chr6:26322938-26323459	K562	blood:	n/a	n/a
11	ATF2	chr6:26313077-26313722	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr6:26322812-26323420	GM12878	blood:	n/a	n/a
13	ATF2	chr6:26322825-26323431	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF2	chr6:26312612-26313636	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF2	chr6:26312689-26313654	GM12878	blood:	n/a	n/a
16	ATF2	chr6:26312628-26313671	GM12878	blood:	n/a	n/a
17	ATF2	chr6:26319213-26319859	H1-hESC	embryonic stem cell:	n/a	n/a
18	ATF2	chr6:26322752-26323434	H1-hESC	embryonic stem cell:	n/a	n/a
19	ATF2	chr6:26322154-26322657	H1-hESC	embryonic stem cell:	n/a	n/a
20	ATF3	chr6:26318959-26319597	A549	lung:	n/a	n/a
21	ATF3	chr6:26322161-26322698	A549	lung:	n/a	n/a
22	ATF3	chr6:26312446-26313747	A549	lung:	n/a	chr6:26313274-26313287
23	ATF3	chr6:26322573-26323714	A549	lung:	n/a	n/a
24	ATF3	chr6:26312324-26313827	K562	blood:	n/a	chr6:26313274-26313287
25	ATF3	chr6:26312551-26313684	HCT-116	colon:	n/a	chr6:26313274-26313287
26	ATF3	chr6:26322740-26323653	K562	blood:	n/a	n/a
27	ATF3	chr6:26318993-26319651	A549	lung:	n/a	n/a
28	ATF3	chr6:26322783-26323487	HCT-116	colon:	n/a	n/a
29	ATF3	chr6:26311048-26313980	A549	lung:	n/a	chr6:26313274-26313287
30	ATF3	chr6:26322748-26323657	A549	lung:	n/a	n/a
31	ATF3	chr6:26319067-26319592	K562	blood:	n/a	n/a
32	ATF3	chr6:26312562-26313761	HCT-116	colon:	n/a	chr6:26313274-26313287
33	BACH1	chr6:26319182-26319510	H1-hESC	embryonic stem cell:	n/a	n/a
34	BACH1	chr6:26312609-26313476	H1-hESC	embryonic stem cell:	n/a	n/a
35	BACH1	chr6:26322181-26322450	H1-hESC	embryonic stem cell:	n/a	n/a
36	BATF	chr6:26319262-26319433	GM12878	blood:	n/a	n/a
37	BATF	chr6:26313193-26313495	GM12878	blood:	n/a	n/a
38	BATF	chr6:26322885-26323198	GM12878	blood:	n/a	n/a
39	BATF	chr6:26322291-26322469	GM12878	blood:	n/a	n/a
40	BATF	chr6:26313158-26313587	GM12878	blood:	n/a	n/a
41	BATF	chr6:26319250-26319447	GM12878	blood:	n/a	n/a
42	BCL11A	chr6:26313223-26313501	GM12878	blood:	n/a	n/a
43	BCL11A	chr6:26313130-26313558	GM12878	blood:	n/a	n/a
44	BCLAF1	chr6:26322109-26322624	GM12878	blood:	n/a	n/a
45	BCLAF1	chr6:26322749-26323442	GM12878	blood:	n/a	n/a
46	BCLAF1	chr6:26312572-26313847	GM12878	blood:	n/a	n/a
47	BCLAF1	chr6:26312687-26313711	K562	blood:	n/a	n/a
48	BCLAF1	chr6:26312679-26313606	GM12878	blood:	n/a	n/a
49	BCLAF1	chr6:26322808-26323429	GM12878	blood:	n/a	n/a
50	BCLAF1	chr6:26312570-26313715	K562	blood:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:26319377-26319427	ProgFib	skin:	n/a
2	chr6:26322488-26322538	HAEpiC	amniotic membrane:	n/a
3	chr6:26319377-26319427	NHDF-neo	bronchial:	n/a
4	chr6:26322387-26322437	SKMC	muscle:	n/a
5	chr6:26319377-26319427	SK-N-MC	brain:	n/a
6	chr6:26319377-26319427	AoSMC	blood vessel:	n/a
7	chr6:26322488-26322538	AoSMC	blood vessel:	n/a
8	chr6:26322291-26322341	HRPEpiC	eye:	n/a
9	chr6:26322387-26322437	GM12878	blood:	n/a
10	chr6:26322488-26322538	SKMC	muscle:	n/a
11	chr6:26313412-26313462	GM12891	blood:	n/a
12	chr6:26313412-26313462	IMR90	lung:	fetal
13	chr6:26319377-26319427	MCF-7	breast:	n/a
14	chr6:26313412-26313462	Caco-2	colon:	n/a
15	chr6:26322488-26322538	HCPEpiC	choroid plexus:	n/a
16	chr6:26322387-26322437	HCM	heart:	n/a
17	chr6:26322488-26322538	HEK293	kidney:	embryo
18	chr6:26322387-26322437	HNPCEpiC	eye:	n/a
19	chr6:26319377-26319427	HNPCEpiC	eye:	n/a
20	chr6:26313412-26313462	AG09309	skin:	n/a
21	chr6:26322488-26322538	LNCaP	prostate:	n/a
22	chr6:26319377-26319427	RPTEC	kidney:	n/a
23	chr6:26322387-26322437	HCT-116	colon:	n/a
24	chr6:26319377-26319427	NB4	blood:	n/a
25	chr6:26319377-26319427	HCM	heart:	n/a
26	chr6:26319377-26319427	GM06990	blood:	n/a
27	chr6:26313412-26313462	HMEC	breast:	n/a
28	chr6:26322387-26322437	GM06990	blood:	n/a
29	chr6:26313412-26313462	H1-hESC	embryonic stem cell:	embryo
30	chr6:26322387-26322437	CMK	blood:	n/a
31	chr6:26319377-26319427	HL-60	blood:	n/a
32	chr6:26322291-26322341	NHBE	bronchial:	n/a
33	chr6:26313412-26313462	LNCaP	prostate:	n/a
34	chr6:26319377-26319427	HIPEpiC	eye:	n/a
35	chr6:26313412-26313462	GM06990	blood:	n/a
36	chr6:26322488-26322538	T-47D	breast:	n/a
37	chr6:26322488-26322538	HCF	heart:	n/a
38	chr6:26322291-26322341	AG04450	lung:	fetal
39	chr6:26322291-26322341	AG09309	skin:	n/a
40	chr6:26319377-26319427	HRE	kidney:	n/a
41	chr6:26319377-26319427	Caco-2	colon:	n/a
42	chr6:26322291-26322341	CMK	blood:	n/a
43	chr6:26322488-26322538	GM12892	blood:	n/a
44	chr6:26322488-26322538	HNPCEpiC	eye:	n/a
45	chr6:26313412-26313462	HCPEpiC	choroid plexus:	n/a
46	chr6:26313412-26313462	Jurkat	blood:	n/a
47	chr6:26319377-26319427	NHBE	bronchial:	n/a
48	chr6:26322387-26322437	PrEC	prostate:	n/a
49	chr6:26313412-26313462	HUVEC	blood vessel:	n/a
50	chr6:26322291-26322341	SK-N-SH_RA	brain:	n/a

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:26310563..26314155-chr6:26536895..26540158,5	K562	blood:
2	chr6:26311604..26315046-chr6:26315358..26318350,4	MCF-7	breast:
3	chr6:26318172..26320821-chr6:26533523..26535253,2	K562	blood:
4	chr16:57480084..57480953-chr6:26321593..26322348,2	Hela-S3	cervix:
5	chr6:26311713..26314020-chr6:26575069..26576687,2	K562	blood:
6	chr6:26312202..26314079-chr6:27098423..27101223,2	K562	blood:
7	chr6:26322866..26325773-chr6:26327005..26329096,3	MCF-7	breast:
8	chr6:26314124..26316500-chr6:26474166..26476547,2	K562	blood:
9	chr6:26311628..26314659-chr6:26531812..26534780,3	K562	blood:
10	chr6:26321606..26324992-chr6:26518176..26520933,3	K562	blood:
11	chr1:226250046..226250889-chr6:26322132..26323073,2	NB4	blood:
12	chr6:26311313..26315619-chr6:26320947..26324621,7	MCF-7	breast:
13	chr6:26316879..26321021-chr6:26321669..26325366,4	MCF-7	breast:
14	chr6:26311888..26313788-chr6:26552571..26554289,2	MCF-7	breast:
15	chr6:26314414..26316326-chr6:26321483..26323727,2	MCF-7	breast:
16	chr6:26319791..26321443-chr6:26520367..26522578,2	K562	blood:
17	chr6:26318766..26321158-chr6:26595395..26597187,2	K562	blood:
18	chr6:26318833..26321012-chr6:26555441..26558176,2	K562	blood:
19	chr6:26311604..26315046-chr6:26315358..26318350,4	MCF-7	breast:
20	chr6:26317773..26322423-chr6:26326646..26329657,4	MCF-7	breast:
21	chr6:26319145..26320706-chr6:27113177..27115389,2	K562	blood:
22	chr6:26273199..26275817-chr6:26322608..26324495,2	MCF-7	breast:
23	chr6:26311801..26313925-chr6:26321423..26324467,3	MCF-7	breast:
24	chr6:26317341..26319926-chr6:26320589..26323146,3	MCF-7	breast:
25	chr6:26318345..26320198-chr6:27114858..27116962,2	MCF-7	breast:
26	chr6:26311753..26313702-chr6:27099614..27101223,2	K562	blood:
27	chr6:26319791..26322184-chr6:26520367..26521947,2	K562	blood:
28	chr6:26315914..26318204-chr6:26552623..26555591,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HIST1H4H-1	chr6:26316553-26316840	NONHSAT108258
2	lnc-BTN3A2-3	chr6:26317819-26318177	NONHSAT108259
3	lnc-HIST1H2BI-3	chr6:26318686-26319429	NONHSAT108260
4	lnc-BTN3A2-3	chr6:26320984-26321555	NONHSAT108259

No data

Variant related genes	Relation type
HIST1H3PS1	TF binding region
HIST1H3PS1	CpG island
ENSG00000163041	chromatin interactions
ENSG00000124635	chromatin interactions
ENSG00000184825	chromatin interactions
ENSG00000146109	chromatin interactions
ENSG00000182952	chromatin interactions
ENSG00000228223	chromatin interactions
ENSG00000220875	chromatin interactions
ENSG00000197903	chromatin interactions
ENSG00000199289	chromatin interactions
ENSG00000265565	chromatin interactions
ENSG00000196787	chromatin interactions

Extended variants
information (count: 420 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:420 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6923139	chr6:26313348-26313349	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs531583533	chr6:26313357-26313358	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs116933804	chr6:26313362-26313363	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs568475710	chr6:26313368-26313369	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs534245251	chr6:26313369-26313370	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs115746517	chr6:26313371-26313372	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs180838367	chr6:26313372-26313373	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs146371337	chr6:26313375-26313376	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs185431481	chr6:26313379-26313380	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs558551616	chr6:26313384-26313385	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs575469149	chr6:26313405-26313406	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs139660977	chr6:26313419-26313420	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs77864303	chr6:26313428-26313429	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs73399361	chr6:26313429-26313430	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs190979247	chr6:26313430-26313431	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs113602497	chr6:26313431-26313432	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs182460773	chr6:26313432-26313433	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs144385100	chr6:26313433-26313434	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs186646777	chr6:26313437-26313438	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs563060623	chr6:26313438-26313439	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs151070279	chr6:26313441-26313442	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs548301116	chr6:26313443-26313444	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs568417363	chr6:26313451-26313452	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs112212125	chr6:26313453-26313454	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs547897080	chr6:26313459-26313460	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs140988519	chr6:26313465-26313466	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs191887746	chr6:26313469-26313470	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs182807892	chr6:26313484-26313485	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs149782591	chr6:26313489-26313490	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs538099809	chr6:26313492-26313493	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs554318233	chr6:26313502-26313503	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs574082088	chr6:26313526-26313527	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs539970225	chr6:26313529-26313530	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs553427809	chr6:26313534-26313535	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs576499939	chr6:26313547-26313548	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs186978195	chr6:26313588-26313589	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs578203752	chr6:26313608-26313609	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs537209359	chr6:26313649-26313650	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs11753590	chr6:26313666-26313667	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs28414311	chr6:26313711-26313712	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs112368323	chr6:26313820-26313821	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs201746066	chr6:26313837-26313838	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs141439843	chr6:26313855-26313856	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs562099550	chr6:26313860-26313861	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs527664395	chr6:26313889-26313890	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs547785840	chr6:26313909-26313910	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs564588371	chr6:26313920-26313921	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs11751978	chr6:26313936-26313937	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs35665238	chr6:26313940-26313941	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs114583103	chr6:26313947-26313948	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Breast cancer	21364760	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Williams-beuren syndrome	16971481	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Autism	22495309	CNVD
Lung cancer	21569311	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Autism	20531469	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:520 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26305600-26313400	Weak transcription	Small Intestine	intestine
2	chr6:26309400-26314200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:26310600-26314400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:26310600-26314400	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr6:26310800-26314200	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr6:26310800-26314200	Active TSS	Fetal Muscle Trunk	muscle
7	chr6:26310800-26314400	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr6:26310800-26314600	Active TSS	H1 Cell Line	embryonic stem cell
9	chr6:26311000-26314200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr6:26311000-26314400	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr6:26311000-26314400	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr6:26311000-26314400	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr6:26311000-26314400	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr6:26311000-26314400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr6:26311000-26314400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr6:26311000-26314400	Active TSS	Brain Anterior Caudate	brain
17	chr6:26311000-26314600	Active TSS	H9 Cell Line	embryonic stem cell
18	chr6:26311200-26314000	Active TSS	Brain Cingulate Gyrus	brain
19	chr6:26311200-26314000	Active TSS	Rectal Smooth Muscle	rectum
20	chr6:26311200-26314200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr6:26311200-26314200	Active TSS	Ovary	ovary
22	chr6:26311200-26314400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:26311200-26314400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr6:26311200-26314400	Active TSS	A549	lung
25	chr6:26311200-26314600	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr6:26311200-26314600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr6:26311200-26314600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr6:26311200-26314600	Active TSS	Brain Angular Gyrus	brain
29	chr6:26311400-26314000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr6:26311400-26314000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr6:26311400-26314000	Active TSS	NH-A	brain
32	chr6:26311400-26314200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr6:26311400-26314200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr6:26311400-26314200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr6:26311400-26314400	Active TSS	NHEK	skin
36	chr6:26311400-26314400	Active TSS	NHLF	lung
37	chr6:26311400-26314600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr6:26311400-26314600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr6:26311400-26314600	Active TSS	K562	blood
40	chr6:26311600-26313400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr6:26311600-26313600	Flanking Active TSS	HUVEC	blood vessel
42	chr6:26311600-26314000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:26311600-26314000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr6:26311600-26314000	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr6:26311600-26314000	Active TSS	Stomach Smooth Muscle	stomach
46	chr6:26311600-26314000	Active TSS	HSMMtube	muscle
47	chr6:26311600-26314200	Active TSS	Brain Hippocampus Middle	brain
48	chr6:26311600-26314200	Active TSS	Right Atrium	heart
49	chr6:26311600-26314400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr6:26311600-26314600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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