Variant report

Variant	nsv1020614
Chromosome Location	chr8:100046692-100594092
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2947)
CpG islands
(count:793)
Chromatin interactive
region (count:235)
LncRNA
region (count:11)
Mature miRNA
region (count: 3)
miRNA target
sites (count:1)

(count:2947 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:100149959-100150472	K562	blood:	n/a	n/a
2	ARID3A	chr8:100298952-100299271	HepG2	liver:	n/a	n/a
3	ARID3A	chr8:100124728-100124858	K562	blood:	n/a	n/a
4	ARID3A	chr8:100510905-100511524	HepG2	liver:	n/a	n/a
5	ARID3A	chr8:100370824-100371122	HepG2	liver:	n/a	n/a
6	ARID3A	chr8:100519158-100519359	HepG2	liver:	n/a	n/a
7	ARID3A	chr8:100400144-100400181	K562	blood:	n/a	n/a
8	ARID3A	chr8:100103092-100103687	K562	blood:	n/a	n/a
9	ARID3A	chr8:100046132-100046815	HepG2	liver:	n/a	n/a
10	ARID3A	chr8:100058615-100058867	K562	blood:	n/a	n/a
11	ARID3A	chr8:100370860-100371168	K562	blood:	n/a	n/a
12	ARID3A	chr8:100416524-100416817	K562	blood:	n/a	n/a
13	ARID3A	chr8:100476490-100476616	HepG2	liver:	n/a	n/a
14	ARID3A	chr8:100445541-100445734	HepG2	liver:	n/a	n/a
15	ATF1	chr8:100416505-100416787	K562	blood:	n/a	n/a
16	ATF1	chr8:100278899-100278960	K562	blood:	n/a	n/a
17	ATF1	chr8:100249602-100249617	K562	blood:	n/a	n/a
18	ATF1	chr8:100103355-100103611	K562	blood:	n/a	n/a
19	ATF1	chr8:100177666-100177787	K562	blood:	n/a	n/a
20	ATF1	chr8:100058613-100058861	K562	blood:	n/a	n/a
21	ATF1	chr8:100135547-100135703	K562	blood:	n/a	n/a
22	ATF1	chr8:100515482-100515487	K562	blood:	n/a	n/a
23	ATF1	chr8:100150113-100150549	K562	blood:	n/a	n/a
24	ATF1	chr8:100468108-100468135	K562	blood:	n/a	n/a
25	ATF1	chr8:100370807-100371120	K562	blood:	n/a	n/a
26	ATF2	chr8:100093166-100093626	GM12878	blood:	n/a	n/a
27	ATF2	chr8:100092901-100093701	GM12878	blood:	n/a	n/a
28	ATF3	chr8:100150017-100150481	K562	blood:	n/a	n/a
29	ATF3	chr8:100103253-100103550	K562	blood:	n/a	n/a
30	BACH1	chr8:100150185-100150441	K562	blood:	n/a	n/a
31	BACH1	chr8:100389266-100389270	K562	blood:	n/a	n/a
32	BACH1	chr8:100182411-100182437	H1-hESC	embryonic stem cell:	n/a	n/a
33	BACH1	chr8:100395401-100395488	K562	blood:	n/a	n/a
34	BATF	chr8:100510819-100511214	GM12878	blood:	n/a	chr8:100510967-100510978
35	BATF	chr8:100253079-100253361	GM12878	blood:	n/a	n/a
36	BATF	chr8:100508028-100508205	GM12878	blood:	n/a	n/a
37	BATF	chr8:100510858-100511111	GM12878	blood:	n/a	chr8:100510967-100510978
38	BATF	chr8:100460709-100460986	GM12878	blood:	n/a	chr8:100460813-100460824
39	BATF	chr8:100093290-100093609	GM12878	blood:	n/a	n/a
40	BATF	chr8:100507953-100508207	GM12878	blood:	n/a	n/a
41	BATF	chr8:100093275-100093603	GM12878	blood:	n/a	n/a
42	BATF	chr8:100460738-100460975	GM12878	blood:	n/a	chr8:100460813-100460824
43	BCL11A	chr8:100093229-100093561	GM12878	blood:	n/a	chr8:100093423-100093432
44	BCL11A	chr8:100508034-100508288	H1-hESC	embryonic stem cell:	n/a	n/a
45	BCL11A	chr8:100305139-100305357	GM12878	blood:	n/a	n/a
46	BCL11A	chr8:100508018-100508319	GM12878	blood:	n/a	n/a
47	BCL11A	chr8:100508036-100508276	GM12878	blood:	n/a	n/a
48	BCL3	chr8:100510825-100511538	A549	lung:	n/a	n/a
49	BCLAF1	chr8:100510821-100511230	GM12878	blood:	n/a	n/a
50	BCLAF1	chr8:100092916-100093613	GM12878	blood:	n/a	chr8:100093423-100093432

(count:793 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:100549849-100549899	HPAEpiC	pulmonary alveolar:	n/a
2	chr8:100559503-100559553	HEEpiC	esophagus:	n/a
3	chr8:100246786-100246836	PrEC	prostate:	n/a
4	chr8:100297748-100297798	HL-60	blood:	n/a
5	chr8:100559503-100559553	T-47D	breast:	n/a
6	chr8:100559503-100559553	BE2_C	brain:	n/a
7	chr8:100549776-100549826	CMK	blood:	n/a
8	chr8:100559503-100559553	Hepatocyte	liver:	n/a
9	chr8:100334620-100334670	AG04449	skin:	fetal
10	chr8:100230864-100230914	HCT-116	colon:	n/a
11	chr8:100334620-100334670	GM19239	blood:	n/a
12	chr8:100549849-100549899	GM12891	blood:	n/a
13	chr8:100297748-100297798	K562	blood:	n/a
14	chr8:100559503-100559553	HEK293	kidney:	embryo
15	chr8:100297748-100297798	GM12891	blood:	n/a
16	chr8:100493491-100493541	A549	lung:	n/a
17	chr8:100464878-100464928	GM06990	blood:	n/a
18	chr8:100549776-100549826	MCF10A-Er-Src	breast:	n/a
19	chr8:100334620-100334670	SAEC	small airway:	n/a
20	chr8:100230864-100230914	BJ	skin:	n/a
21	chr8:100559503-100559553	MCF10A-Er-Src	breast:	n/a
22	chr8:100464878-100464928	NT2-D1	testis:	n/a
23	chr8:100493491-100493541	AG10803	skin:	n/a
24	chr8:100464878-100464928	AG10803	skin:	n/a
25	chr8:100262768-100262818	ProgFib	skin:	n/a
26	chr8:100334620-100334670	MCF10A-Er-Src	breast:	n/a
27	chr8:100549776-100549826	PANC-1	pancreas:	n/a
28	chr8:100559503-100559553	NHDF-neo	bronchial:	n/a
29	chr8:100104103-100104153	HAEpiC	amniotic membrane:	n/a
30	chr8:100297748-100297798	SK-N-SH	brain:	n/a
31	chr8:100559503-100559553	GM12891	blood:	n/a
32	chr8:100262768-100262818	SK-N-MC	brain:	n/a
33	chr8:100104103-100104153	HUVEC	blood vessel:	n/a
34	chr8:100157208-100157258	HCT-116	colon:	n/a
35	chr8:100549776-100549826	HL-60	blood:	n/a
36	chr8:100559503-100559553	IMR90	lung:	fetal
37	chr8:100246786-100246836	HCT-116	colon:	n/a
38	chr8:100464878-100464928	HNPCEpiC	eye:	n/a
39	chr8:100559503-100559553	Caco-2	colon:	n/a
40	chr8:100252466-100252516	SK-N-SH_RA	brain:	n/a
41	chr8:100464878-100464928	MCF-7	breast:	n/a
42	chr8:100262768-100262818	SAEC	small airway:	n/a
43	chr8:100297748-100297798	T-47D	breast:	n/a
44	chr8:100252466-100252516	ProgFib	skin:	n/a
45	chr8:100262768-100262818	AG10803	skin:	n/a
46	chr8:100334620-100334670	T-47D	breast:	n/a
47	chr8:100559503-100559553	HUVEC	blood vessel:	n/a
48	chr8:100549776-100549826	AoSMC	blood vessel:	n/a
49	chr8:100104103-100104153	BJ	skin:	n/a
50	chr8:100104103-100104153	CMK	blood:	n/a

(count:235 , 50 per page) page: 1 2 3 4 5

No.	Distal block	Cell Line	Cell type
1	chr8:100217626..100220133-chr8:100221301..100223694,2	K562	blood:
2	chr8:100257181..100259983-chr8:100260891..100263215,2	K562	blood:
3	chr8:100024340..100026866-chr8:100052293..100056237,3	MCF-7	breast:
4	chr8:99956335..99957904-chr8:100286239..100289117,2	MCF-7	breast:
5	chr8:100181985..100183886-chr8:100189568..100191594,2	MCF-7	breast:
6	chr17:59467368..59468208-chr8:100108099..100109078,2	MCF-7	breast:
7	chr8:100481937..100483971-chr8:100485663..100487345,2	MCF-7	breast:
8	chr8:99952476..99953694-chr8:100370455..100371470,4	MCF-7	breast:
9	chr8:100357228..100359296-chr8:100360534..100362578,2	MCF-7	breast:
10	chr8:100323481..100327206-chr8:100331154..100333171,3	MCF-7	breast:
11	chr8:100038641..100040285-chr8:100044049..100046695,2	K562	blood:
12	chr8:100165081..100167634-chr8:100170824..100172995,2	K562	blood:
13	chr8:100101168..100103542-chr8:100111717..100113562,2	K562	blood:
14	chr8:100180149..100180921-chr8:100370671..100371459,2	MCF-7	breast:
15	chr8:100218080..100220133-chr8:100221773..100223694,2	K562	blood:
16	chr8:100433911..100436132-chr8:100443954..100446728,2	MCF-7	breast:
17	chr8:100190689..100193029-chr8:100201859..100204401,2	K562	blood:
18	chr8:100021568..100024441-chr8:100255336..100257958,2	MCF-7	breast:
19	chr8:100485436..100487741-chr8:100494328..100496741,2	K562	blood:
20	chr8:100327325..100329198-chr8:100340079..100342358,2	MCF-7	breast:
21	chr8:100539051..100543758-chr8:100545879..100549609,5	K562	blood:
22	chr8:100214282..100216094-chr8:100216677..100219374,2	MCF-7	breast:
23	chr8:100553009..100554706-chr8:100561096..100563189,2	K562	blood:
24	chr8:100332741..100335703-chr8:100337137..100341568,3	MCF-7	breast:
25	chr8:100558486..100560693-chr8:100576849..100579778,3	MCF-7	breast:
26	chr8:100340207..100341801-chr8:100343989..100346691,2	MCF-7	breast:
27	chr8:100023854..100026580-chr8:100056839..100058625,2	MCF-7	breast:
28	chr8:100459116..100461634-chr8:100473693..100476496,2	MCF-7	breast:
29	chr8:100380996..100382939-chr8:100386454..100387970,2	K562	blood:
30	chr8:100495717..100498178-chr8:100505651..100508035,2	K562	blood:
31	chr8:100474939..100477291-chr8:100497932..100499895,2	MCF-7	breast:
32	chr8:100403788..100404692-chr8:100799555..100800231,3	MCF-7	breast:
33	chr8:100550054..100551658-chr8:100559009..100560949,2	K562	blood:
34	chr8:100109729..100112333-chr8:100147157..100149231,2	K562	blood:
35	chr8:100253785..100255699-chr8:100276390..100278151,2	MCF-7	breast:
36	chr8:100544046..100548556-chr8:100548656..100552103,4	K562	blood:
37	chr8:99180814..99181617-chr8:100370430..100371368,2	MCF-7	breast:
38	chr8:100450418..100452655-chr8:100468623..100470594,2	K562	blood:
39	chr8:100180037..100180965-chr8:100818919..100819673,2	MCF-7	breast:
40	chr8:100267273..100269231-chr8:100273875..100275740,2	K562	blood:
41	chr8:100403791..100404673-chr8:100818662..100819568,3	MCF-7	breast:
42	chr8:100024118..100026755-chr8:100073445..100075343,2	MCF-7	breast:
43	chr8:99952913..99953621-chr8:100370794..100371379,2	MCF-7	breast:
44	chr8:100180284..100182081-chr8:100183993..100185529,2	K562	blood:
45	chr8:100513095..100514805-chr8:100516611..100518159,2	MCF-7	breast:
46	chr8:100369443..100371664-chr8:100373746..100375749,2	K562	blood:
47	chr8:100506206..100508940-chr8:100515378..100517666,2	MCF-7	breast:
48	chr8:99955457..99958039-chr8:100115422..100117482,3	MCF-7	breast:
49	chr8:100024762..100026893-chr8:100106816..100109546,3	MCF-7	breast:
50	chr8:100566647..100568766-chr8:100572666..100574996,2	MCF-7	breast:

(count:11 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-STK3-3	chr8:100103966-100104326	ENSG00000253562.1
2	lnc-OSR2-2	chr8:100132332-100132809	ENSG00000253532.1
3	lnc-STK3-3	chr8:100106157-100106288	ENSG00000253562.1
4	lnc-OSR2-2	chr8:100131580-100131696	ENSG00000253532.1
5	lnc-OSR2-7	chr8:100443749-100443892	NONHSAT127953
6	lnc-STK3-7	chr8:100358280-100360484	NONHSAT127952
7	lnc-OSR2-7	chr8:100401844-100401948	NONHSAT127953
8	lnc-STK3-6	chr8:100352533-100353989	NONHSAT127951
9	lnc-OSR2-7	chr8:100454629-100454639	NONHSAT127953
10	lnc-OSR2-7	chr8:100441798-100441875	NONHSAT127953
11	lnc-OSR2-7	chr8:100403785-100403932	NONHSAT127953

miRNA name	Chromosome Location	mirBase accession
hsa-miR-875-5p	chr8:100549058-100549079	MIMAT0004922
hsa-miR-875-3p	chr8:100549025-100549045	MIMAT0004923
hsa-miR-599	chr8:100548879-100548898	MIMAT0003267

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	VPS13B	hsa-miR-186-5p	chr8:100221987-100222010

Variant related genes	Relation type
VPS13B	TF binding region
MIR599	TF binding region
ENSG00000225017	TF binding region
ENSG00000236583	TF binding region
ENSG00000253532	TF binding region
ENSG00000253562	TF binding region
MIR875	TF binding region
ENSG00000206699	TF binding region
ENSG00000237704	TF binding region
VPS13B	CpG island
MIR599	CpG island
ENSG00000225017	CpG island
ENSG00000236583	CpG island
ENSG00000253532	CpG island
ENSG00000253562	CpG island
MIR875	CpG island
ENSG00000206699	CpG island
ENSG00000237704	CpG island
ENSG00000132549	chromatin interactions
ENSG00000095015	chromatin interactions
ENSG00000124596	chromatin interactions
ENSG00000253532	chromatin interactions
ENSG00000253180	chromatin interactions
ENSG00000009307	chromatin interactions
ENSG00000271930	chromatin interactions
ENSG00000216069	chromatin interactions
ENSG00000253948	chromatin interactions
ENSG00000225017	chromatin interactions
ENSG00000164920	chromatin interactions
ENSG00000206699	chromatin interactions
ENSG00000207804	chromatin interactions
ENSG00000169045	chromatin interactions
ENSG00000004779	chromatin interactions
ENSG00000253912	chromatin interactions
ENSG00000270135	chromatin interactions
ENSG00000188029	chromatin interactions
ENSG00000001167	chromatin interactions

Extended variants
information (count: 18508 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:18508 , 50 per page) page: 1 2 3 4 5 6 7 ... 371

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10955197	chr8:100046692-100046693	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs537305868	chr8:100046705-100046706	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561627082	chr8:100046717-100046718	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575075688	chr8:100046724-100046725	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544082613	chr8:100046772-100046773	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562404609	chr8:100046776-100046777	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575992640	chr8:100046807-100046808	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189163062	chr8:100046854-100046855	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs115655965	chr8:100046964-100046965	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552723486	chr8:100046985-100046986	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559847814	chr8:100047009-100047010	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs528298844	chr8:100047015-100047016	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs181968711	chr8:100047077-100047078	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs568238030	chr8:100047083-100047084	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs565226441	chr8:100047088-100047089	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs199901215	chr8:100047089-100047090	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs114115426	chr8:100047090-100047091	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs570356306	chr8:100047117-100047118	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs550829661	chr8:100047134-100047135	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs373727280	chr8:100047138-100047139	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs140339696	chr8:100047174-100047175	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs527568655	chr8:100047284-100047285	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs539011681	chr8:100047295-100047296	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs537777060	chr8:100047321-100047322	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs185727142	chr8:100047349-100047350	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs572554029	chr8:100047360-100047361	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs376910042	chr8:100047381-100047382	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs189158012	chr8:100047425-100047426	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs554902716	chr8:100047453-100047454	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574956388	chr8:100047488-100047489	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs543783968	chr8:100047614-100047615	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs563939784	chr8:100047646-100047647	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs577322513	chr8:100047685-100047686	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546173893	chr8:100047695-100047696	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs550709940	chr8:100047697-100047698	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs570793575	chr8:100047718-100047719	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs181053688	chr8:100047731-100047732	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs542294277	chr8:100047845-100047846	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs561760821	chr8:100047859-100047860	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs370557529	chr8:100047872-100047873	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs530701705	chr8:100047877-100047878	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550616685	chr8:100047881-100047882	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs142402749	chr8:100047967-100047968	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs570373325	chr8:100048023-100048024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532766038	chr8:100048029-100048030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529796111	chr8:100048051-100048052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566120342	chr8:100048052-100048053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200973207	chr8:100048075-100048076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535228674	chr8:100048098-100048099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370584510	chr8:100048130-100048131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:113)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16461302	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	17260012	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Colorectal cancer	19455253	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cohen syndrome	20461111	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Renal cell carcinoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:5261 , 50 per page) page: 1 2 3 4 5 6 7 ... 106

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100026200-100047000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:100026200-100047000	Weak transcription	Gastric	stomach
3	chr8:100026200-100047200	Weak transcription	Small Intestine	intestine
4	chr8:100026200-100047600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:100026600-100047000	Weak transcription	Lung	lung
6	chr8:100026600-100083800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr8:100027200-100057000	Weak transcription	Brain Substantia Nigra	brain
8	chr8:100028400-100046800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr8:100028600-100053000	Weak transcription	Hela-S3	cervix
10	chr8:100029600-100086200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr8:100030600-100047000	Weak transcription	Pancreas	Pancrea
12	chr8:100030800-100047800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr8:100032200-100051600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr8:100032200-100084000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr8:100032400-100077800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr8:100032600-100086200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr8:100033200-100048800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr8:100033400-100051200	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr8:100036800-100057200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr8:100036800-100068400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:100037000-100046800	Weak transcription	Ovary	ovary
22	chr8:100037000-100048800	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr8:100037000-100051200	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr8:100037000-100056800	Weak transcription	Fetal Kidney	kidney
25	chr8:100037200-100056600	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr8:100039800-100046800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr8:100040600-100086800	Weak transcription	Brain Angular Gyrus	brain
28	chr8:100042200-100047400	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr8:100042600-100047800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr8:100044000-100047000	ZNF genes & repeats	Primary B cells from cord blood	blood
31	chr8:100044000-100047000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr8:100044000-100047400	ZNF genes & repeats	GM12878-XiMat	blood
33	chr8:100044200-100059400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr8:100044400-100047000	Weak transcription	Esophagus	oesophagus
35	chr8:100044400-100050000	Weak transcription	Psoas Muscle	Psoas
36	chr8:100044400-100057200	Weak transcription	Liver	Liver
37	chr8:100044400-100057200	Weak transcription	Duodenum Mucosa	Duodenum
38	chr8:100044400-100058000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr8:100044400-100061800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr8:100044400-100066400	Weak transcription	Stomach Smooth Muscle	stomach
41	chr8:100044400-100067400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr8:100044400-100083600	Weak transcription	Aorta	Aorta
43	chr8:100044400-100083800	Weak transcription	Left Ventricle	heart
44	chr8:100044600-100046800	Weak transcription	Fetal Brain Male	brain
45	chr8:100044600-100048400	Weak transcription	Brain Hippocampus Middle	brain
46	chr8:100044600-100050600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr8:100044600-100051800	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr8:100044600-100057000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr8:100044600-100057200	Weak transcription	Fetal Lung	lung
50	chr8:100044600-100077600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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