Variant report

Variant	nsv539471
Chromosome Location	chr8:10617908-10700140
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	chr8:10634540-10635222	K562	blood:	n/a	n/a
2	ARID3A	chr8:10632964-10633416	K562	blood:	n/a	n/a
3	ARID3A	chr8:10697291-10697370	HepG2	liver:	n/a	n/a
4	ARID3A	chr8:10618425-10619055	K562	blood:	n/a	n/a
5	ARID3A	chr8:10653397-10654025	K562	blood:	n/a	n/a
6	ARID3A	chr8:10629194-10629470	K562	blood:	n/a	n/a
7	ARID3A	chr8:10631175-10631647	K562	blood:	n/a	n/a
8	ARID3A	chr8:10638845-10638952	K562	blood:	n/a	n/a
9	ARID3A	chr8:10657152-10657846	HepG2	liver:	n/a	n/a
10	ARID3A	chr8:10696393-10696785	HepG2	liver:	n/a	n/a
11	ARID3A	chr8:10657288-10657802	K562	blood:	n/a	n/a
12	ARID3A	chr8:10656082-10656601	K562	blood:	n/a	n/a
13	ARID3A	chr8:10665773-10666115	K562	blood:	n/a	n/a
14	ARID3A	chr8:10676462-10676890	K562	blood:	n/a	n/a
15	ATF1	chr8:10653494-10654054	K562	blood:	n/a	n/a
16	ATF1	chr8:10618426-10618829	K562	blood:	n/a	n/a
17	ATF1	chr8:10697184-10697696	K562	blood:	n/a	chr8:10697396-10697410
18	ATF1	chr8:10629162-10629538	K562	blood:	n/a	n/a
19	ATF1	chr8:10671700-10671979	K562	blood:	n/a	n/a
20	ATF1	chr8:10634783-10635469	K562	blood:	n/a	n/a
21	ATF1	chr8:10657290-10657727	K562	blood:	n/a	n/a
22	ATF2	chr8:10646076-10646653	GM12878	blood:	n/a	n/a
23	ATF2	chr8:10697128-10697561	GM12878	blood:	n/a	chr8:10697398-10697409 chr8:10697396-10697410
24	ATF2	chr8:10646115-10646583	GM12878	blood:	n/a	n/a
25	ATF2	chr8:10697142-10697894	GM12878	blood:	n/a	chr8:10697398-10697409 chr8:10697396-10697410
26	ATF2	chr8:10697121-10697646	H1-hESC	embryonic stem cell:	n/a	chr8:10697398-10697409 chr8:10697396-10697410
27	ATF2	chr8:10641139-10641593	GM12878	blood:	n/a	n/a
28	ATF2	chr8:10641097-10641653	GM12878	blood:	n/a	n/a
29	ATF3	chr8:10634812-10635209	K562	blood:	n/a	n/a
30	ATF3	chr8:10697124-10697566	H1-hESC	embryonic stem cell:	n/a	chr8:10697399-10697419 chr8:10697398-10697411 chr8:10697399-10697407 chr8:10697396-10697409 chr8:10697396-10697407 chr8:10697400-10697407 chr8:10697397-10697407 chr8:10697398-10697409 chr8:10697388-10697408 chr8:10697396-10697411 chr8:10697398-10697409 chr8:10697188-10697199
31	ATF3	chr8:10697122-10697570	HepG2	liver:	n/a	chr8:10697399-10697419 chr8:10697398-10697411 chr8:10697399-10697407 chr8:10697396-10697409 chr8:10697396-10697407 chr8:10697400-10697407 chr8:10697397-10697407 chr8:10697398-10697409 chr8:10697388-10697408 chr8:10697396-10697411 chr8:10697398-10697409 chr8:10697188-10697199
32	ATF3	chr8:10697260-10697540	GM12878	blood:	n/a	chr8:10697399-10697419 chr8:10697398-10697411 chr8:10697399-10697407 chr8:10697396-10697409 chr8:10697396-10697407 chr8:10697400-10697407 chr8:10697397-10697407 chr8:10697398-10697409 chr8:10697388-10697408 chr8:10697396-10697411 chr8:10697398-10697409
33	ATF3	chr8:10697125-10697572	H1-hESC	embryonic stem cell:	n/a	chr8:10697399-10697419 chr8:10697398-10697411 chr8:10697399-10697407 chr8:10697396-10697409 chr8:10697396-10697407 chr8:10697400-10697407 chr8:10697397-10697407 chr8:10697398-10697409 chr8:10697388-10697408 chr8:10697396-10697411 chr8:10697398-10697409 chr8:10697188-10697199
34	ATF3	chr8:10657391-10657631	K562	blood:	n/a	n/a
35	ATF3	chr8:10697132-10697785	GM12878	blood:	n/a	chr8:10697399-10697419 chr8:10697398-10697411 chr8:10697399-10697407 chr8:10697396-10697409 chr8:10697396-10697407 chr8:10697400-10697407 chr8:10697397-10697407 chr8:10697398-10697409 chr8:10697388-10697408 chr8:10697396-10697411 chr8:10697398-10697409 chr8:10697188-10697199
36	ATF3	chr8:10697192-10697596	K562	blood:	n/a	chr8:10697399-10697419 chr8:10697398-10697411 chr8:10697399-10697407 chr8:10697396-10697409 chr8:10697396-10697407 chr8:10697400-10697407 chr8:10697397-10697407 chr8:10697398-10697409 chr8:10697388-10697408 chr8:10697396-10697411 chr8:10697398-10697409
37	ATF3	chr8:10697078-10697557	K562	blood:	n/a	chr8:10697399-10697419 chr8:10697398-10697411 chr8:10697399-10697407 chr8:10697396-10697409 chr8:10697396-10697407 chr8:10697400-10697407 chr8:10697397-10697407 chr8:10697398-10697409 chr8:10697388-10697408 chr8:10697396-10697411 chr8:10697398-10697409 chr8:10697188-10697199
38	ATF3	chr8:10657250-10657724	K562	blood:	n/a	n/a
39	ATF3	chr8:10697179-10697527	HepG2	liver:	n/a	chr8:10697399-10697419 chr8:10697398-10697411 chr8:10697399-10697407 chr8:10697396-10697409 chr8:10697396-10697407 chr8:10697400-10697407 chr8:10697397-10697407 chr8:10697398-10697409 chr8:10697388-10697408 chr8:10697396-10697411 chr8:10697398-10697409 chr8:10697188-10697199
40	BACH1	chr8:10634535-10634552	K562	blood:	n/a	n/a
41	BACH1	chr8:10676446-10676803	K562	blood:	n/a	n/a
42	BACH1	chr8:10618657-10618682	K562	blood:	n/a	n/a
43	BATF	chr8:10646148-10646551	GM12878	blood:	n/a	chr8:10646312-10646323
44	BATF	chr8:10641195-10641508	GM12878	blood:	n/a	chr8:10641369-10641380
45	BATF	chr8:10663103-10663760	GM12878	blood:	n/a	n/a
46	BATF	chr8:10641154-10641577	GM12878	blood:	n/a	chr8:10641369-10641380
47	BCL11A	chr8:10663503-10663756	GM12878	blood:	n/a	n/a
48	BCL11A	chr8:10646180-10646518	GM12878	blood:	n/a	n/a
49	BCL11A	chr8:10641274-10641544	GM12878	blood:	n/a	n/a
50	BCL3	chr8:10646199-10646599	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:10646690-10646740	NT2-D1	testis:	n/a
2	chr8:10695457-10695507	RPTEC	kidney:	n/a
3	chr8:10696571-10696621	ECC-1	luminal epithelium:	n/a
4	chr8:10646690-10646740	NT2-D1	testis:	n/a
5	chr8:10695457-10695507	RPTEC	kidney:	n/a
6	chr8:10696571-10696621	ECC-1	luminal epithelium:	n/a
7	chr8:10686021-10686071	HCM	heart:	n/a
8	chr8:10623038-10623088	Hepatocyte	liver:	n/a
9	chr8:10657514-10657564	HCF	heart:	n/a
10	chr8:10697540-10697590	GM19239	blood:	n/a
11	chr8:10635419-10635469	PANC-1	pancreas:	n/a
12	chr8:10696571-10696621	H1-hESC	embryonic stem cell:	embryo
13	chr8:10697540-10697590	Hela-S3	cervix:	n/a
14	chr8:10695457-10695507	SKMC	muscle:	n/a
15	chr8:10650046-10650096	Jurkat	blood:	n/a
16	chr8:10635419-10635469	RPTEC	kidney:	n/a
17	chr8:10621801-10621851	U87	brain:	n/a
18	chr8:10696571-10696621	HRCEpiC	kidney:	n/a
19	chr8:10622887-10622937	HUVEC	blood vessel:	n/a
20	chr8:10683167-10683217	BJ	skin:	n/a
21	chr8:10698115-10698165	SK-N-SH	brain:	n/a
22	chr8:10686021-10686071	Hela-S3	cervix:	n/a
23	chr8:10694831-10694881	HAEpiC	amniotic membrane:	n/a
24	chr8:10622805-10622855	HAEpiC	amniotic membrane:	n/a
25	chr8:10686021-10686071	SKMC	muscle:	n/a
26	chr8:10683266-10683316	NHDF-neo	bronchial:	n/a
27	chr8:10623344-10623394	SAEC	small airway:	n/a
28	chr8:10697350-10697400	HCF	heart:	n/a
29	chr8:10623534-10623584	GM12891	blood:	n/a
30	chr8:10623038-10623088	RPTEC	kidney:	n/a
31	chr8:10622887-10622937	HRCEpiC	kidney:	n/a
32	chr8:10622805-10622855	AG09309	skin:	n/a
33	chr8:10697633-10697683	GM19239	blood:	n/a
34	chr8:10683188-10683238	PFSK-1	brain:	n/a
35	chr8:10623038-10623088	HCPEpiC	choroid plexus:	n/a
36	chr8:10697633-10697683	SKMC	muscle:	n/a
37	chr8:10650046-10650096	HAEpiC	amniotic membrane:	n/a
38	chr8:10643634-10643684	PANC-1	pancreas:	n/a
39	chr8:10657514-10657564	ProgFib	skin:	n/a
40	chr8:10696571-10696621	HEK293	kidney:	embryo
41	chr8:10697540-10697590	PrEC	prostate:	n/a
42	chr8:10683139-10683189	NHDF-neo	bronchial:	n/a
43	chr8:10686021-10686071	HL-60	blood:	n/a
44	chr8:10697546-10697596	PANC-1	pancreas:	n/a
45	chr8:10621935-10621985	SK-N-SH	brain:	n/a
46	chr8:10695457-10695507	K562	blood:	n/a
47	chr8:10622887-10622937	HL-60	blood:	n/a
48	chr8:10683167-10683217	HepG2	liver:	n/a
49	chr8:10683188-10683238	AG04449	skin:	fetal
50	chr8:10621874-10621924	BJ	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:10615290..10617626-chr8:10678525..10680394,2	K562	blood:
2	chr8:10648353..10650941-chr8:10651549..10653303,2	K562	blood:
3	chr8:10405304..10405893-chr8:10696191..10696982,2	MCF-7	breast:
4	chr8:10694381..10696683-chr8:10699083..10701009,2	K562	blood:
5	chr8:10620237..10621942-chr8:10624836..10626716,2	K562	blood:
6	chr8:10637227..10639658-chr8:10641198..10643629,3	K562	blood:
7	chr8:10683547..10686608-chr8:10694341..10697878,5	K562	blood:
8	chr8:10654838..10657527-chr8:10667570..10669417,2	K562	blood:
9	chr8:10442713..10444669-chr8:10687154..10689359,2	K562	blood:
10	chr8:10628530..10631997-chr8:10633640..10636320,4	K562	blood:
11	chr8:10621941..10624619-chr8:10627842..10631333,3	K562	blood:
12	chr8:10694766..10696620-chr8:10707984..10711858,3	K562	blood:
13	chr8:10447282..10448390-chr8:10682147..10683493,10	MCF-7	breast:
14	chr8:10616130..10621063-chr8:10631004..10634975,5	K562	blood:
15	chr8:10671204..10673781-chr8:10675039..10678414,4	K562	blood:
16	chr8:10683525..10686850-chr8:10694502..10697878,5	K562	blood:
17	chr8:10644063..10645864-chr8:10646300..10647918,2	K562	blood:
18	chr8:10696613..10699167-chr8:10699499..10701389,2	MCF-7	breast:
19	chr8:10674524..10677009-chr8:10677940..10682794,6	K562	blood:
20	chr8:10647998..10650941-chr8:10651803..10654879,3	K562	blood:
21	chr8:10690421..10694581-chr8:10695821..10698975,5	MCF-7	breast:
22	chr8:10644063..10645864-chr8:10646300..10647918,2	K562	blood:
23	chr8:10674524..10677009-chr8:10677940..10680830,2	K562	blood:
24	chr8:10461544..10463468-chr8:10674781..10677553,2	K562	blood:
25	chr8:10447773..10448295-chr8:10656037..10656649,2	MCF-7	breast:
26	chr8:10672246..10673781-chr8:10676914..10678468,2	K562	blood:
27	chr8:10671204..10673781-chr8:10675039..10678414,4	K562	blood:
28	chr8:10687146..10690339-chr8:10690695..10692954,3	K562	blood:
29	chr8:10628530..10631997-chr8:10633640..10636320,4	K562	blood:
30	chr8:10648269..10650512-chr8:10653379..10655643,2	K562	blood:
31	chr8:10517902..10518777-chr8:10655034..10655826,2	K562	blood:
32	chr7:6048462..6049308-chr8:10696898..10697687,2	Hela-S3	cervix:
33	chr8:10444970..10445545-chr8:10682548..10683133,2	K562	blood:
34	chr8:10674524..10677009-chr8:10677940..10682794,6	K562	blood:
35	chr8:10444578..10445174-chr8:10671828..10672358,2	MCF-7	breast:
36	chr8:10631743..10634256-chr8:10658449..10660185,2	K562	blood:
37	chr8:10692044..10695028-chr8:10695086..10697405,2	MCF-7	breast:
38	chr8:10687156..10690707-chr8:10693616..10698468,7	K562	blood:
39	chr8:10651485..10654382-chr8:10658663..10661335,2	K562	blood:
40	chr8:10631743..10634256-chr8:10658449..10660185,2	K562	blood:
41	chr8:10690421..10694581-chr8:10695821..10698975,5	MCF-7	breast:
42	chr8:10647998..10650941-chr8:10651803..10654879,3	K562	blood:
43	chr8:10661041..10663071-chr8:10663223..10664921,2	MCF-7	breast:
44	chr8:10674954..10678350-chr8:10693952..10697087,3	K562	blood:
45	chr8:10696865..10697476-chr9:116172175..116172925,2	Hela-S3	cervix:
46	chr8:10621941..10624619-chr8:10627842..10631333,3	K562	blood:
47	chr8:10633410..10636281-chr8:10695946..10698229,2	K562	blood:
48	chr8:10659319..10661970-chr8:10670204..10672080,2	K562	blood:
49	chr8:10412812..10415531-chr8:10671274..10673611,2	K562	blood:
50	chr8:10683525..10686850-chr8:10694502..10697878,5	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C8orf74-4	chr8:10624234-10624550	ucscGeneNc_uc003wtg_1
2	lnc-C8orf74-2	chr8:10699143-10699244	ENSG00000253695.1
3	lnc-C8orf74-1	chr8:10628705-10628902	ENSG00000248896
4	lnc-C8orf74-4	chr8:10649122-10649238	ucscGeneNc_uc003wtg_1
5	lnc-C8orf74-2	chr8:10698071-10698138	NONHSAT125020
6	lnc-C8orf74-2	chr8:10698086-10698138	NONHSAT125021
7	lnc-C8orf74-1	chr8:10621847-10622233	ENSG00000248896
8	lnc-C8orf74-2	chr8:10698086-10698138	ENSG00000253695.1
9	lnc-C8orf74-4	chr8:10659257-10660077	ucscGeneNc_uc003wtg_1
10	lnc-PINX1-1	chr8:10615296-10618693	NONHSAT125016
11	lnc-C8orf74-1	chr8:10622680-10622686	NONHSAT125014
12	lnc-C8orf74-2	chr8:10699143-10699244	NONHSAT125020
13	lnc-C8orf74-2	chr8:10699143-10699244	NONHSAT125021
14	lnc-C8orf74-2	chr8:10697463-10697586	NONHSAT125020
15	lnc-RP1L1-7	chr8:10660588-10662320	NONHSAT125018
16	lnc-C8orf74-1	chr8:10621847-10622667	NONHSAT125014

miRNA name	Chromosome Location	mirBase accession
hsa-miR-1322	chr8:10682885-10682903	MIMAT0005953

Variant related genes	Relation type
ENSG00000252565	TF binding region
ENSG00000253695	TF binding region
ENSG00000258724	TF binding region
SOX7	TF binding region
PINX1	TF binding region
ENSG00000252565	CpG island
ENSG00000253695	CpG island
ENSG00000258724	CpG island
SOX7	CpG island
PINX1	CpG island
ENSG00000148229	chromatin interactions
ENSG00000157653	chromatin interactions
ENSG00000122512	chromatin interactions
ENSG00000253695	chromatin interactions
ENSG00000254093	chromatin interactions
ENSG00000171060	chromatin interactions
ENSG00000106305	chromatin interactions
ENSG00000252565	chromatin interactions
ENSG00000258724	chromatin interactions
HSPA1B	miRNA target sites

Extended variants
information (count: 4759 )
Associated
traits (count: 150 )

Variant overlapped rSNPs/rCNVs (count:4759 , 50 per page) page: 1 2 3 4 5 6 7 ... 96

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182864046	chr8:10617924-10617925	Weak transcription Enhancers Flanking Active TSS Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
2	rs533360983	chr8:10617941-10617942	Weak transcription Enhancers Flanking Active TSS Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
3	rs117161187	chr8:10617943-10617944	Weak transcription Enhancers Flanking Active TSS Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
4	rs569809338	chr8:10617990-10617991	Weak transcription Enhancers Flanking Active TSS Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
5	rs535662143	chr8:10618050-10618051	Weak transcription Enhancers Flanking Active TSS Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
6	rs185728404	chr8:10618052-10618053	Weak transcription Enhancers Flanking Active TSS Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
7	rs142339160	chr8:10618070-10618071	Weak transcription Enhancers Flanking Active TSS Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
8	rs534455263	chr8:10618175-10618176	Weak transcription Enhancers Flanking Active TSS Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
9	rs919555	chr8:10618176-10618177	Weak transcription Enhancers Flanking Active TSS Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs577223618	chr8:10618183-10618184	Weak transcription Enhancers Flanking Active TSS Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
11	rs78492292	chr8:10618189-10618190	Weak transcription Enhancers Flanking Active TSS Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
12	rs4841440	chr8:10618200-10618201	Weak transcription Enhancers Flanking Active TSS Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs576630361	chr8:10618201-10618202	Weak transcription Enhancers Flanking Active TSS Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
14	rs542484321	chr8:10618203-10618204	Weak transcription Enhancers Flanking Active TSS Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
15	rs562175780	chr8:10618228-10618229	Weak transcription Enhancers Flanking Active TSS Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
16	rs112200833	chr8:10618237-10618238	Weak transcription Enhancers Flanking Active TSS Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
17	rs572589896	chr8:10618266-10618267	Weak transcription Enhancers Flanking Active TSS Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
18	rs541585744	chr8:10618267-10618268	Weak transcription Enhancers Flanking Active TSS Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
19	rs564523306	chr8:10618269-10618270	Weak transcription Enhancers Flanking Active TSS Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
20	rs533373214	chr8:10618283-10618284	Weak transcription Enhancers Flanking Active TSS Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
21	rs375031239	chr8:10618285-10618286	Weak transcription Enhancers Flanking Active TSS Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
22	rs73542560	chr8:10618314-10618315	Weak transcription Enhancers Flanking Active TSS Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs563679581	chr8:10618365-10618366	Weak transcription Enhancers Flanking Active TSS Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
24	rs529207116	chr8:10618462-10618463	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
25	rs151269646	chr8:10618477-10618478	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
26	rs565785763	chr8:10618489-10618490	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
27	rs541877183	chr8:10618503-10618504	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
28	rs528227391	chr8:10618513-10618514	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
29	rs371957924	chr8:10618532-10618533	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
30	rs376779792	chr8:10618553-10618554	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
31	rs570977981	chr8:10618556-10618557	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
32	rs140512169	chr8:10618570-10618571	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
33	rs191574979	chr8:10618577-10618578	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
34	rs182977542	chr8:10618597-10618598	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
35	rs535810184	chr8:10618609-10618610	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
36	rs556021654	chr8:10618631-10618632	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
37	rs572680664	chr8:10618642-10618643	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
38	rs34771714	chr8:10618655-10618656	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
39	rs541596152	chr8:10618656-10618657	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
40	rs558297316	chr8:10618670-10618671	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
41	rs578164203	chr8:10618766-10618767	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs75643352	chr8:10618770-10618771	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs187973888	chr8:10618778-10618779	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs529287759	chr8:10618795-10618796	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs79699709	chr8:10618805-10618806	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs190727420	chr8:10618842-10618843	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs138386547	chr8:10618851-10618852	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs551131293	chr8:10618852-10618853	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs77974131	chr8:10618862-10618863	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs76410058	chr8:10618870-10618871	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:150)

Disease	PMID	Source
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	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
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	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
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	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
Developmental disorder	20461109	CNVD
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Gastric cancer	21811585	CNVD
Colorectal cancer	16774939	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Renal cell carcinoma	21215367	CNVD
Osteosarcoma	21215367	CNVD
Schizophrenia	23813976	CNVD
Autism	20531469	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:2753 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10610000-10621400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:10610600-10620400	Weak transcription	HepG2	liver
3	chr8:10610800-10622200	Weak transcription	Primary B cells from cord blood	blood
4	chr8:10610800-10662000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr8:10611200-10624400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:10612600-10621600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:10612800-10621600	Weak transcription	Spleen	Spleen
8	chr8:10613200-10622600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr8:10613400-10621600	Weak transcription	Aorta	Aorta
10	chr8:10613600-10618400	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr8:10613600-10618800	Weak transcription	Fetal Muscle Leg	muscle
12	chr8:10614200-10621400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr8:10614400-10634200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr8:10614800-10618400	Weak transcription	Placenta	Placenta
15	chr8:10614800-10618600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:10614800-10621400	Weak transcription	Left Ventricle	heart
17	chr8:10614800-10621400	Weak transcription	Lung	lung
18	chr8:10614800-10621800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr8:10614800-10622000	Weak transcription	Hela-S3	cervix
20	chr8:10615000-10621400	Weak transcription	Adipose Nuclei	Adipose
21	chr8:10615200-10618400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr8:10615400-10620800	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr8:10615400-10621400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr8:10615600-10621600	Weak transcription	Dnd41	blood
25	chr8:10615800-10621400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr8:10615800-10621600	Weak transcription	Gastric	stomach
27	chr8:10616600-10618600	Enhancers	K562	blood
28	chr8:10616600-10621600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr8:10616800-10618400	Weak transcription	Fetal Stomach	stomach
30	chr8:10616800-10621200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr8:10617200-10618000	Enhancers	Esophagus	oesophagus
32	chr8:10617200-10620800	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr8:10617200-10621200	Weak transcription	Stomach Smooth Muscle	stomach
34	chr8:10617400-10618800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr8:10617400-10621600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr8:10617600-10618200	Enhancers	HSMMtube	muscle
37	chr8:10617600-10618600	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr8:10617600-10618600	Enhancers	HMEC	breast
39	chr8:10617600-10618800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr8:10617600-10618800	Flanking Active TSS	Liver	Liver
41	chr8:10617600-10619200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr8:10617600-10619200	Enhancers	NHEK	skin
43	chr8:10617600-10621400	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr8:10617800-10618000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr8:10617800-10618000	Flanking Active TSS	Brain Cingulate Gyrus	brain
46	chr8:10617800-10618000	Active TSS	Brain Hippocampus Middle	brain
47	chr8:10617800-10618000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
48	chr8:10617800-10618000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr8:10617800-10618000	Enhancers	Fetal Thymus	thymus
50	chr8:10617800-10618000	Enhancers	Ovary	ovary

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links