Variant report

Variant	nsv6107
Chromosome Location	chr8:20056154-20100794
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:20061186-20061777	K562	blood:	n/a	n/a
2	ARID3A	chr8:20059810-20060819	K562	blood:	n/a	n/a
3	ARID3A	chr8:20056204-20056496	HepG2	liver:	n/a	n/a
4	ARID3A	chr8:20055631-20056721	K562	blood:	n/a	chr8:20055919-20055935
5	ARID3A	chr8:20058298-20059045	K562	blood:	n/a	n/a
6	ATF1	chr8:20061366-20061787	K562	blood:	n/a	n/a
7	ATF1	chr8:20059957-20060262	K562	blood:	n/a	n/a
8	ATF1	chr8:20058346-20058643	K562	blood:	n/a	n/a
9	ATF3	chr8:20058256-20058689	K562	blood:	n/a	n/a
10	BACH1	chr8:20089393-20089776	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr8:20059880-20060390	K562	blood:	n/a	n/a
12	BHLHE40	chr8:20055820-20056414	K562	blood:	n/a	n/a
13	BHLHE40	chr8:20089319-20089718	GM12878	blood:	n/a	n/a
14	BHLHE40	chr8:20058312-20058656	K562	blood:	n/a	n/a
15	BHLHE40	chr8:20059978-20060366	K562	blood:	n/a	n/a
16	BHLHE40	chr8:20058903-20058905	GM12878	blood:	n/a	n/a
17	BHLHE40	chr8:20056219-20056279	HepG2	liver:	n/a	n/a
18	BHLHE40	chr8:20090724-20090728	K562	blood:	n/a	n/a
19	BHLHE40	chr8:20081331-20081576	GM12878	blood:	n/a	n/a
20	BRCA1	chr8:20081393-20081558	GM12878	blood:	n/a	n/a
21	CCNT2	chr8:20060069-20060269	K562	blood:	n/a	n/a
22	CEBPB	chr8:20058351-20058604	HepG2	liver:	n/a	chr8:20058442-20058455 chr8:20058442-20058453 chr8:20058503-20058516 chr8:20058442-20058455 chr8:20058443-20058454 chr8:20058475-20058484 chr8:20058473-20058484 chr8:20058475-20058484 chr8:20058504-20058515 chr8:20058503-20058516
23	CEBPB	chr8:20058141-20058797	A549	lung:	n/a	chr8:20058442-20058455 chr8:20058442-20058453 chr8:20058503-20058516 chr8:20058442-20058455 chr8:20058443-20058454 chr8:20058475-20058484 chr8:20058473-20058484 chr8:20058475-20058484 chr8:20058504-20058515 chr8:20058503-20058516
24	CEBPB	chr8:20077931-20077984	A549	lung:	n/a	n/a
25	CEBPB	chr8:20079588-20080675	IMR90	lung:	n/a	n/a
26	CEBPB	chr8:20058319-20058709	MCF-7	breast:	n/a	chr8:20058442-20058455 chr8:20058442-20058453 chr8:20058503-20058516 chr8:20058442-20058455 chr8:20058443-20058454 chr8:20058475-20058484 chr8:20058473-20058484 chr8:20058475-20058484 chr8:20058504-20058515 chr8:20058503-20058516
27	CEBPB	chr8:20058295-20058678	HepG2	liver:	n/a	chr8:20058442-20058455 chr8:20058442-20058453 chr8:20058503-20058516 chr8:20058442-20058455 chr8:20058443-20058454 chr8:20058475-20058484 chr8:20058473-20058484 chr8:20058475-20058484 chr8:20058504-20058515 chr8:20058503-20058516
28	CEBPB	chr8:20058249-20058765	HCT-116	colon:	n/a	chr8:20058442-20058455 chr8:20058442-20058453 chr8:20058503-20058516 chr8:20058442-20058455 chr8:20058443-20058454 chr8:20058475-20058484 chr8:20058473-20058484 chr8:20058475-20058484 chr8:20058504-20058515 chr8:20058503-20058516
29	CEBPB	chr8:20058242-20058664	ECC-1	luminal epithelium:	n/a	chr8:20058442-20058455 chr8:20058442-20058453 chr8:20058503-20058516 chr8:20058442-20058455 chr8:20058443-20058454 chr8:20058475-20058484 chr8:20058473-20058484 chr8:20058475-20058484 chr8:20058504-20058515 chr8:20058503-20058516
30	CEBPB	chr8:20058286-20058706	ECC-1	luminal epithelium:	n/a	chr8:20058442-20058455 chr8:20058442-20058453 chr8:20058503-20058516 chr8:20058442-20058455 chr8:20058443-20058454 chr8:20058475-20058484 chr8:20058473-20058484 chr8:20058475-20058484 chr8:20058504-20058515 chr8:20058503-20058516
31	CEBPB	chr8:20058258-20058680	H1-hESC	embryonic stem cell:	n/a	chr8:20058442-20058455 chr8:20058442-20058453 chr8:20058503-20058516 chr8:20058442-20058455 chr8:20058443-20058454 chr8:20058475-20058484 chr8:20058473-20058484 chr8:20058475-20058484 chr8:20058504-20058515 chr8:20058503-20058516
32	CEBPB	chr8:20098923-20099073	A549	lung:	n/a	n/a
33	CEBPB	chr8:20079941-20080241	A549	lung:	n/a	n/a
34	CEBPB	chr8:20077842-20078059	HepG2	liver:	n/a	n/a
35	CEBPB	chr8:20069668-20069885	A549	lung:	n/a	n/a
36	CEBPB	chr8:20057894-20058924	K562	blood:	n/a	chr8:20058442-20058455 chr8:20058442-20058453 chr8:20058503-20058516 chr8:20058442-20058455 chr8:20058443-20058454 chr8:20058475-20058484 chr8:20058473-20058484 chr8:20058475-20058484 chr8:20058504-20058515 chr8:20058503-20058516
37	CEBPB	chr8:20058269-20058693	IMR90	lung:	n/a	chr8:20058442-20058455 chr8:20058442-20058453 chr8:20058503-20058516 chr8:20058442-20058455 chr8:20058443-20058454 chr8:20058475-20058484 chr8:20058473-20058484 chr8:20058475-20058484 chr8:20058504-20058515 chr8:20058503-20058516
38	CEBPB	chr8:20079808-20080291	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr8:20058265-20058692	A549	lung:	n/a	chr8:20058442-20058455 chr8:20058442-20058453 chr8:20058503-20058516 chr8:20058442-20058455 chr8:20058443-20058454 chr8:20058475-20058484 chr8:20058473-20058484 chr8:20058475-20058484 chr8:20058504-20058515 chr8:20058503-20058516
40	CEBPB	chr8:20058262-20058695	HepG2	liver:	n/a	chr8:20058442-20058455 chr8:20058442-20058453 chr8:20058503-20058516 chr8:20058442-20058455 chr8:20058443-20058454 chr8:20058475-20058484 chr8:20058473-20058484 chr8:20058475-20058484 chr8:20058504-20058515 chr8:20058503-20058516
41	CEBPB	chr8:20058291-20058703	A549	lung:	n/a	chr8:20058442-20058455 chr8:20058442-20058453 chr8:20058503-20058516 chr8:20058442-20058455 chr8:20058443-20058454 chr8:20058475-20058484 chr8:20058473-20058484 chr8:20058475-20058484 chr8:20058504-20058515 chr8:20058503-20058516
42	CEBPB	chr8:20056257-20056983	K562	blood:	n/a	n/a
43	CEBPB	chr8:20069625-20069943	IMR90	lung:	n/a	n/a
44	CEBPB	chr8:20058249-20058792	HCT-116	colon:	n/a	chr8:20058442-20058455 chr8:20058442-20058453 chr8:20058503-20058516 chr8:20058442-20058455 chr8:20058443-20058454 chr8:20058475-20058484 chr8:20058473-20058484 chr8:20058475-20058484 chr8:20058504-20058515 chr8:20058503-20058516
45	CEBPB	chr8:20058242-20058721	K562	blood:	n/a	chr8:20058442-20058455 chr8:20058442-20058453 chr8:20058503-20058516 chr8:20058442-20058455 chr8:20058443-20058454 chr8:20058475-20058484 chr8:20058473-20058484 chr8:20058475-20058484 chr8:20058504-20058515 chr8:20058503-20058516
46	CEBPB	chr8:20059795-20060194	K562	blood:	n/a	n/a
47	CEBPB	chr8:20057904-20058848	Hela-S3	cervix:	n/a	chr8:20058442-20058455 chr8:20058442-20058453 chr8:20058503-20058516 chr8:20058442-20058455 chr8:20058443-20058454 chr8:20058475-20058484 chr8:20058473-20058484 chr8:20058475-20058484 chr8:20058504-20058515 chr8:20058503-20058516
48	CEBPB	chr8:20058092-20058855	K562	blood:	n/a	chr8:20058442-20058455 chr8:20058442-20058453 chr8:20058503-20058516 chr8:20058442-20058455 chr8:20058443-20058454 chr8:20058475-20058484 chr8:20058473-20058484 chr8:20058475-20058484 chr8:20058504-20058515 chr8:20058503-20058516
49	CEBPB	chr8:20089279-20089603	H1-hESC	embryonic stem cell:	n/a	n/a
50	CEBPB	chr8:20058160-20058776	MCF-7	breast:	n/a	chr8:20058442-20058455 chr8:20058442-20058453 chr8:20058503-20058516 chr8:20058442-20058455 chr8:20058443-20058454 chr8:20058475-20058484 chr8:20058473-20058484 chr8:20058475-20058484 chr8:20058504-20058515 chr8:20058503-20058516

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:20090225-20090275	HNPCEpiC	eye:	n/a
2	chr8:20090225-20090275	NH-A	brain:	n/a
3	chr8:20060877-20060927	AG09309	skin:	n/a
4	chr8:20090225-20090275	HCT-116	colon:	n/a
5	chr8:20080666-20080716	CMK	blood:	n/a
6	chr8:20060877-20060927	T-47D	breast:	n/a
7	chr8:20077936-20077986	Hela-S3	cervix:	n/a
8	chr8:20060877-20060927	GM12891	blood:	n/a
9	chr8:20077936-20077986	HIPEpiC	eye:	n/a
10	chr8:20077936-20077986	Jurkat	blood:	n/a
11	chr8:20080666-20080716	GM12892	blood:	n/a
12	chr8:20090225-20090275	PrEC	prostate:	n/a
13	chr8:20060877-20060927	SK-N-SH	brain:	n/a
14	chr8:20080666-20080716	SK-N-SH_RA	brain:	n/a
15	chr8:20090225-20090275	IMR90	lung:	fetal
16	chr8:20077936-20077986	Caco-2	colon:	n/a
17	chr8:20080666-20080716	PFSK-1	brain:	n/a
18	chr8:20060877-20060927	NH-A	brain:	n/a
19	chr8:20077936-20077986	AG04449	skin:	fetal
20	chr8:20080666-20080716	HRCEpiC	kidney:	n/a
21	chr8:20090225-20090275	HL-60	blood:	n/a
22	chr8:20077936-20077986	HRE	kidney:	n/a
23	chr8:20060877-20060927	AG04449	skin:	fetal
24	chr8:20077936-20077986	NT2-D1	testis:	n/a
25	chr8:20060877-20060927	SK-N-MC	brain:	n/a
26	chr8:20060877-20060927	GM19239	blood:	n/a
27	chr8:20060877-20060927	Jurkat	blood:	n/a
28	chr8:20090225-20090275	AoSMC	blood vessel:	n/a
29	chr8:20080666-20080716	HUVEC	blood vessel:	n/a
30	chr8:20060877-20060927	AG10803	skin:	n/a
31	chr8:20080666-20080716	U87	brain:	n/a
32	chr8:20060877-20060927	BE2_C	brain:	n/a
33	chr8:20060877-20060927	HRCEpiC	kidney:	n/a
34	chr8:20080666-20080716	HRE	kidney:	n/a
35	chr8:20090225-20090275	A549	lung:	n/a
36	chr8:20090225-20090275	NHDF-neo	bronchial:	n/a
37	chr8:20060877-20060927	NT2-D1	testis:	n/a
38	chr8:20080666-20080716	HMEC	breast:	n/a
39	chr8:20077936-20077986	IMR90	lung:	fetal
40	chr8:20060877-20060927	GM06990	blood:	n/a
41	chr8:20077936-20077986	NHBE	bronchial:	n/a
42	chr8:20060877-20060927	AG04450	lung:	fetal
43	chr8:20090225-20090275	SKMC	muscle:	n/a
44	chr8:20077936-20077986	GM12891	blood:	n/a
45	chr8:20090225-20090275	MCF10A-Er-Src	breast:	n/a
46	chr8:20060877-20060927	NHBE	bronchial:	n/a
47	chr8:20077936-20077986	HRCEpiC	kidney:	n/a
48	chr8:20077936-20077986	MCF10A-Er-Src	breast:	n/a
49	chr8:20090225-20090275	HUVEC	blood vessel:	n/a
50	chr8:20080666-20080716	Jurkat	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:20078974..20080125-chr8:20233790..20234379,3	MCF-7	breast:
2	chr8:19800611..19802825-chr8:20055037..20057972,2	MCF-7	breast:
3	chr8:20080893..20081852-chr8:20089441..20090169,2	MCF-7	breast:
4	chr8:20088954..20089900-chr8:20237904..20238487,2	K562	blood:
5	chr8:20058099..20059707-chr8:20060031..20061752,2	K562	blood:
6	chr8:20080893..20081852-chr8:20089441..20090169,2	MCF-7	breast:
7	chr8:20088909..20090051-chr8:20233327..20234373,18	K562	blood:
8	chr8:20060132..20061783-chr8:20074410..20076344,2	K562	blood:
9	chr8:20076331..20078897-chr8:20084632..20086626,2	K562	blood:
10	chr8:20090787..20091644-chr8:20233441..20234008,2	K562	blood:
11	chr8:20059849..20062019-chr8:20071866..20073490,2	K562	blood:
12	chr8:20088974..20089533-chr8:20236283..20236966,2	MCF-7	breast:
13	chr8:20100650..20102578-chr8:20107776..20109639,2	K562	blood:
14	chr8:20070858..20073934-chr8:20074904..20076955,3	K562	blood:
15	chr8:20089437..20091365-chr8:20095283..20097507,2	K562	blood:
16	chr8:20085731..20091365-chr8:20092849..20097507,5	K562	blood:
17	chr8:20047045..20049449-chr8:20055849..20058080,2	K562	blood:
18	chr8:20088088..20089926-chr8:20233248..20234294,12	MCF-7	breast:
19	chr8:20059849..20062019-chr8:20071866..20073490,2	K562	blood:
20	chr8:20053730..20056872-chr8:20057079..20060453,3	MCF-7	breast:
21	chr8:20072689..20074502-chr8:20076708..20078934,2	MCF-7	breast:
22	chr8:20086233..20088628-chr8:20091921..20094349,2	K562	blood:
23	chr8:20076331..20078897-chr8:20084632..20086626,2	K562	blood:
24	chr8:20089044..20089857-chr8:20230939..20231621,2	MCF-7	breast:
25	chr8:20061426..20067342-chr8:20067355..20071432,7	K562	blood:
26	chr8:19698148..19700086-chr8:20077801..20079801,2	K562	blood:
27	chr8:20058099..20059707-chr8:20060031..20061752,2	K562	blood:
28	chr16:85454060..85454897-chr8:20080984..20081769,2	MCF-7	breast:
29	chr8:20052561..20055139-chr8:20062405..20064613,2	K562	blood:
30	chr8:20084830..20086943-chr8:20087821..20089403,2	K562	blood:
31	chr8:20054589..20056207-chr8:20061652..20063617,2	MCF-7	breast:
32	chr8:20080837..20081378-chr8:20230451..20231038,2	K562	blood:
33	chr8:20081034..20081913-chr8:20233476..20234485,8	MCF-7	breast:
34	chr8:20036475..20038568-chr8:20054692..20056965,2	MCF-7	breast:
35	chr8:20061426..20067342-chr8:20067355..20071432,7	K562	blood:
36	chr8:20080921..20082306-chr8:20233354..20234450,5	K562	blood:
37	chr8:20081555..20083194-chr8:20086240..20088366,2	K562	blood:
38	chr8:20084830..20086943-chr8:20087821..20089403,2	K562	blood:
39	chr8:20049831..20052925-chr8:20057041..20061103,3	K562	blood:
40	chr8:20074199..20078908-chr8:20079233..20083576,5	K562	blood:
41	chr8:20088116..20090278-chr8:20233803..20235473,2	K562	blood:
42	chr8:20072689..20074502-chr8:20076708..20078934,2	MCF-7	breast:
43	chr8:20088600..20090081-chr8:20233342..20234519,28	MCF-7	breast:
44	chr8:20053671..20056309-chr8:20065573..20068336,2	K562	blood:
45	chr8:20080349..20082328-chr8:20233127..20234370,21	MCF-7	breast:
46	chr8:20089437..20091365-chr8:20095283..20097507,2	K562	blood:

No.	miRNA target gene	miRNA name	Chromosome Location
1	ATP6V1B2	hsa-miR-30a-5p	chr8:20078788-20078809
2	ATP6V1B2	hsa-miR-30a-5p	chr8:20078743-20078764
3	ATP6V1B2	hsa-miR-30a-5p	chr8:20077017-20077039
4	ATP6V1B2	hsa-miR-1	chr8:20079062-20079068
5	ATP6V1B2	hsa-miR-16-5p	chr8:20078402-20078408
6	ATP6V1B2	hsa-let-7a-5p	chr8:20076433-20076456
7	ATP6V1B2	hsa-miR-16-5p	chr8:20077914-20077922
8	ATP6V1B2	hsa-miR-16-5p	chr8:20078405-20078411

Variant related genes	Relation type
ATP6V1B2	TF binding region
RNU6-892P	TF binding region
ATP6V1B2	CpG island
RNU6-892P	CpG island
ENSG00000036565	chromatin interactions
ENSG00000147416	chromatin interactions
ENSG00000222267	chromatin interactions

Extended variants
information (count: 2050 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:2050 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187071273	chr8:20056159-20056160	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs191835862	chr8:20056168-20056169	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs184382896	chr8:20056198-20056199	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs141982485	chr8:20056200-20056201	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs566488826	chr8:20056226-20056227	Flanking Active TSS Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs146066847	chr8:20056232-20056233	Flanking Active TSS Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs554224228	chr8:20056265-20056266	Flanking Active TSS Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs577119272	chr8:20056282-20056283	Flanking Active TSS Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs538100424	chr8:20056315-20056316	Flanking Active TSS Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs556516369	chr8:20056321-20056322	Flanking Active TSS Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs1497019	chr8:20056352-20056353	Flanking Active TSS Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs138801233	chr8:20056356-20056357	Flanking Active TSS Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs188392269	chr8:20056373-20056374	Flanking Active TSS Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs572493222	chr8:20056420-20056421	Flanking Active TSS Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs546289495	chr8:20056429-20056430	Flanking Active TSS Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs142076929	chr8:20056455-20056456	Flanking Active TSS Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs531809910	chr8:20056467-20056468	Flanking Active TSS Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs79169475	chr8:20056484-20056485	Flanking Active TSS Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs371342146	chr8:20056507-20056508	Flanking Active TSS Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs11987478	chr8:20056508-20056509	Flanking Active TSS Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs372470684	chr8:20056520-20056521	Flanking Active TSS Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs71532227	chr8:20056543-20056544	Flanking Active TSS Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs529686219	chr8:20056550-20056551	Flanking Active TSS Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs375748742	chr8:20056582-20056583	Flanking Active TSS Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs558458166	chr8:20056618-20056619	Flanking Active TSS Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs117853493	chr8:20056640-20056641	Flanking Active TSS Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs566467690	chr8:20056653-20056654	Flanking Active TSS Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs146330824	chr8:20056680-20056681	Flanking Active TSS Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs552315321	chr8:20056693-20056694	Flanking Active TSS Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs370867035	chr8:20056696-20056697	Flanking Active TSS Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs577483550	chr8:20056723-20056724	Flanking Active TSS Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs544049374	chr8:20056739-20056740	Flanking Active TSS Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs570630117	chr8:20056788-20056789	Flanking Active TSS Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs538063682	chr8:20056810-20056811	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs556611379	chr8:20056819-20056820	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs193243221	chr8:20056835-20056836	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs568405082	chr8:20056837-20056838	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs139595811	chr8:20056840-20056841	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs370903239	chr8:20056854-20056855	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs114473607	chr8:20056866-20056867	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs572420326	chr8:20056936-20056937	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs75884118	chr8:20056943-20056944	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs545954119	chr8:20056994-20056995	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs557859437	chr8:20057012-20057013	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs576215582	chr8:20057026-20057027	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs375780411	chr8:20057028-20057029	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs7835864	chr8:20057033-20057034	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs185684235	chr8:20057043-20057044	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs7819232	chr8:20057082-20057083	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs139038926	chr8:20057116-20057117	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:119)

Disease	PMID	Source
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Epilepsy	22083797	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17603634	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21364760	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cancer	18840272	CNVD
Breast cancer	19602461	CNVD
Osteosarcoma	19286668	CNVD
Prostate cancer	19242612	CNVD
Prostate cancer	19258508	CNVD
small cell lung cancer	20016488	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Gastric adenocarcinoma	19115996	CNVD
Colorectal cancer	19455253	CNVD
Melanoma	20688739	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD
Chordoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:1911 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20053800-20056400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr8:20054000-20056200	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr8:20054000-20056200	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr8:20054000-20056200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:20054000-20056200	Active TSS	Brain Substantia Nigra	brain
6	chr8:20054000-20056400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:20054000-20057000	Active TSS	Brain Angular Gyrus	brain
8	chr8:20054000-20057000	Active TSS	Brain Cingulate Gyrus	brain
9	chr8:20054000-20057000	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr8:20054000-20057000	Active TSS	Stomach Smooth Muscle	stomach
11	chr8:20054200-20056200	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr8:20054200-20056200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
13	chr8:20054200-20056200	Active TSS	Right Ventricle	heart
14	chr8:20054200-20056400	Active TSS	Ovary	ovary
15	chr8:20054200-20056800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr8:20054200-20056800	Active TSS	Right Atrium	heart
17	chr8:20054200-20057000	Active TSS	HSMMtube	muscle
18	chr8:20054400-20056200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
19	chr8:20054400-20056400	Active TSS	Left Ventricle	heart
20	chr8:20054400-20056400	Active TSS	Pancreas	Pancrea
21	chr8:20054400-20056400	Active TSS	NHDF-Ad	bronchial
22	chr8:20054400-20056600	Active TSS	Aorta	Aorta
23	chr8:20054400-20056600	Active TSS	Fetal Intestine Small	intestine
24	chr8:20054400-20056600	Active TSS	Psoas Muscle	Psoas
25	chr8:20054400-20056800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr8:20054400-20057000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr8:20054400-20057000	Active TSS	HSMM	muscle
28	chr8:20054400-20057200	Active TSS	Lung	lung
29	chr8:20054400-20057400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:20054400-20058400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr8:20054600-20056200	Active TSS	GM12878-XiMat	blood
32	chr8:20054600-20056200	Active TSS	K562	blood
33	chr8:20054600-20056400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:20054600-20056400	Active TSS	Muscle Satellite Cultured Cells	--
35	chr8:20054600-20056400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr8:20054600-20056400	Active TSS	Rectal Smooth Muscle	rectum
37	chr8:20054600-20056400	Active TSS	Monocytes-CD14+_RO01746	blood
38	chr8:20054600-20056600	Active TSS	Primary monocytes fromperipheralblood	blood
39	chr8:20054600-20056800	Active TSS	Brain Hippocampus Middle	brain
40	chr8:20054600-20056800	Active TSS	Fetal Kidney	kidney
41	chr8:20054600-20056800	Active TSS	NHLF	lung
42	chr8:20054600-20057600	Active TSS	Fetal Intestine Large	intestine
43	chr8:20054600-20057800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr8:20054800-20056200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr8:20054800-20056600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr8:20055000-20056400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
47	chr8:20055200-20056400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr8:20055200-20056600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr8:20055200-20057000	Flanking Active TSS	Primary B cells from cord blood	blood
50	chr8:20055200-20057000	Flanking Active TSS	Primary hematopoietic stem cells	blood

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