Variant report

Variant	nsv539693
Chromosome Location	chr8:99978271-100168938
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1901)
CpG islands
(count:1709)
Chromatin interactive
region (count:161)
LncRNA
region (count:14)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1901 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:100023747-100023947	K562	blood:	n/a	n/a
2	ARID3A	chr8:100025256-100025507	HepG2	liver:	n/a	n/a
3	ARID3A	chr8:100025752-100025948	K562	blood:	n/a	n/a
4	ARID3A	chr8:100103092-100103687	K562	blood:	n/a	n/a
5	ARID3A	chr8:100010143-100010485	K562	blood:	n/a	n/a
6	ARID3A	chr8:99979696-99979755	HepG2	liver:	n/a	n/a
7	ARID3A	chr8:100124728-100124858	K562	blood:	n/a	n/a
8	ARID3A	chr8:100046312-100046577	K562	blood:	n/a	n/a
9	ARID3A	chr8:100046132-100046815	HepG2	liver:	n/a	n/a
10	ARID3A	chr8:100038356-100038875	HepG2	liver:	n/a	n/a
11	ARID3A	chr8:100025358-100025487	K562	blood:	n/a	n/a
12	ARID3A	chr8:100149959-100150472	K562	blood:	n/a	n/a
13	ARID3A	chr8:100058615-100058867	K562	blood:	n/a	n/a
14	ATF1	chr8:100058613-100058861	K562	blood:	n/a	n/a
15	ATF1	chr8:99989189-99989309	K562	blood:	n/a	n/a
16	ATF1	chr8:100150113-100150549	K562	blood:	n/a	n/a
17	ATF1	chr8:100103355-100103611	K562	blood:	n/a	n/a
18	ATF1	chr8:100135547-100135703	K562	blood:	n/a	n/a
19	ATF2	chr8:100025121-100025659	GM12878	blood:	n/a	n/a
20	ATF2	chr8:100025069-100025608	H1-hESC	embryonic stem cell:	n/a	n/a
21	ATF2	chr8:100092901-100093701	GM12878	blood:	n/a	n/a
22	ATF2	chr8:100024655-100026274	GM12878	blood:	n/a	n/a
23	ATF2	chr8:100093166-100093626	GM12878	blood:	n/a	n/a
24	ATF2	chr8:99986670-99987066	H1-hESC	embryonic stem cell:	n/a	n/a
25	ATF3	chr8:100150017-100150481	K562	blood:	n/a	n/a
26	ATF3	chr8:100025143-100025741	A549	lung:	n/a	n/a
27	ATF3	chr8:100024993-100025682	A549	lung:	n/a	n/a
28	ATF3	chr8:100103253-100103550	K562	blood:	n/a	n/a
29	BACH1	chr8:100025132-100025563	H1-hESC	embryonic stem cell:	n/a	n/a
30	BACH1	chr8:100150185-100150441	K562	blood:	n/a	n/a
31	BACH1	chr8:99986624-99986995	H1-hESC	embryonic stem cell:	n/a	n/a
32	BATF	chr8:100093275-100093603	GM12878	blood:	n/a	n/a
33	BATF	chr8:100093290-100093609	GM12878	blood:	n/a	n/a
34	BCL11A	chr8:100093229-100093561	GM12878	blood:	n/a	chr8:100093423-100093432
35	BCL3	chr8:100025069-100025722	A549	lung:	n/a	chr8:100025253-100025262 chr8:100025599-100025612 chr8:100025221-100025234 chr8:100025419-100025432 chr8:100025201-100025214 chr8:100025210-100025223
36	BCL3	chr8:100024662-100025922	A549	lung:	n/a	chr8:100025253-100025262 chr8:100025599-100025612 chr8:100024668-100024675 chr8:100024802-100024811 chr8:100025221-100025234 chr8:100025419-100025432 chr8:100025201-100025214 chr8:100025210-100025223
37	BCLAF1	chr8:100092916-100093613	GM12878	blood:	n/a	chr8:100093423-100093432
38	BCLAF1	chr8:100024836-100026154	GM12878	blood:	n/a	chr8:100025253-100025262 chr8:100025599-100025612 chr8:100025221-100025234 chr8:100025419-100025432 chr8:100025201-100025214 chr8:100025210-100025223
39	BCLAF1	chr8:100024708-100026259	GM12878	blood:	n/a	chr8:100025253-100025262 chr8:100025599-100025612 chr8:100024802-100024811 chr8:100025221-100025234 chr8:100025419-100025432 chr8:100025201-100025214 chr8:100025210-100025223
40	BDP1	chr8:100031640-100031902	Hela-S3	cervix:	n/a	n/a
41	BHLHE40	chr8:100150155-100150410	K562	blood:	n/a	n/a
42	BHLHE40	chr8:100024953-100025726	GM12878	blood:	n/a	chr8:100025200-100025216 chr8:100025210-100025226
43	BHLHE40	chr8:100014442-100014700	K562	blood:	n/a	n/a
44	BHLHE40	chr8:100010233-100010298	GM12878	blood:	n/a	n/a
45	BHLHE40	chr8:100024698-100025782	K562	blood:	n/a	chr8:100025200-100025216 chr8:100025210-100025226
46	BHLHE40	chr8:100014445-100014796	GM12878	blood:	n/a	n/a
47	BHLHE40	chr8:100028624-100028628	GM12878	blood:	n/a	n/a
48	BHLHE40	chr8:100047020-100047214	K562	blood:	n/a	n/a
49	BRCA1	chr8:100025324-100025697	GM12878	blood:	n/a	n/a
50	BRCA1	chr8:100025249-100025471	HepG2	liver:	n/a	n/a

(count:1709 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:99986964-99987014	AoSMC	blood vessel:	n/a
2	chr8:99986964-99987014	AoSMC	blood vessel:	n/a
3	chr8:100024465-100024515	SK-N-SH	brain:	n/a
4	chr8:100023123-100023173	Hela-S3	cervix:	n/a
5	chr8:99984534-99984584	RPTEC	kidney:	n/a
6	chr8:99984763-99984813	PrEC	prostate:	n/a
7	chr8:99985888-99985938	AG04449	skin:	fetal
8	chr8:99983622-99983672	HepG2	liver:	n/a
9	chr8:100104103-100104153	HIPEpiC	eye:	n/a
10	chr8:100157208-100157258	PANC-1	pancreas:	n/a
11	chr8:99984350-99984400	AG09319	gingival:	n/a
12	chr8:100025000-100025050	AG10803	skin:	n/a
13	chr8:100025364-100025414	PFSK-1	brain:	n/a
14	chr8:99984350-99984400	NT2-D1	testis:	n/a
15	chr8:99986344-99986394	HRCEpiC	kidney:	n/a
16	chr8:100025364-100025414	CMK	blood:	n/a
17	chr8:99989605-99989655	PrEC	prostate:	n/a
18	chr8:99985888-99985938	Caco-2	colon:	n/a
19	chr8:99999681-99999731	NT2-D1	testis:	n/a
20	chr8:100025388-100025438	NT2-D1	testis:	n/a
21	chr8:99986344-99986394	HAEpiC	amniotic membrane:	n/a
22	chr8:99982385-99982435	HIPEpiC	eye:	n/a
23	chr8:99984680-99984730	BE2_C	brain:	n/a
24	chr8:99984763-99984813	HUVEC	blood vessel:	n/a
25	chr8:99983622-99983672	NB4	blood:	n/a
26	chr8:99982385-99982435	HCM	heart:	n/a
27	chr8:99986175-99986225	HL-60	blood:	n/a
28	chr8:99984534-99984584	HRE	kidney:	n/a
29	chr8:99984350-99984400	HEEpiC	esophagus:	n/a
30	chr8:99986344-99986394	GM06990	blood:	n/a
31	chr8:99984763-99984813	IMR90	lung:	fetal
32	chr8:100025831-100025881	SAEC	small airway:	n/a
33	chr8:99989605-99989655	AG09319	gingival:	n/a
34	chr8:100025831-100025881	PFSK-1	brain:	n/a
35	chr8:100024881-100024931	NHDF-neo	bronchial:	n/a
36	chr8:99985049-99985099	HNPCEpiC	eye:	n/a
37	chr8:99986344-99986394	ProgFib	skin:	n/a
38	chr8:99986344-99986394	T-47D	breast:	n/a
39	chr8:99999681-99999731	Jurkat	blood:	n/a
40	chr8:100025604-100025654	HIPEpiC	eye:	n/a
41	chr8:100025388-100025438	AG04450	lung:	fetal
42	chr8:99983622-99983672	HRE	kidney:	n/a
43	chr8:99988676-99988726	HRCEpiC	kidney:	n/a
44	chr8:100157208-100157258	PrEC	prostate:	n/a
45	chr8:99986175-99986225	AG09309	skin:	n/a
46	chr8:100157208-100157258	H1-hESC	embryonic stem cell:	embryo
47	chr8:99985049-99985099	PFSK-1	brain:	n/a
48	chr8:100025388-100025438	HRCEpiC	kidney:	n/a
49	chr8:100025364-100025414	MCF10A-Er-Src	breast:	n/a
50	chr8:100023123-100023173	PrEC	prostate:	n/a

(count:161 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr8:99956762..99958304-chr8:100013613..100016438,2	K562	blood:
2	chr8:100013186..100018258-chr8:100022769..100026424,8	MCF-7	breast:
3	chr8:100053284..100056633-chr8:100058644..100061245,3	MCF-7	breast:
4	chr8:100005341..100007193-chr8:100016588..100018736,2	MCF-7	breast:
5	chr8:99570092..99570986-chr8:100009815..100010452,2	MCF-7	breast:
6	chr8:100030902..100033864-chr8:100036860..100038785,2	MCF-7	breast:
7	chr8:99952762..99963438-chr8:100019139..100031293,37	MCF-7	breast:
8	chr8:99989686..99991239-chr8:100020336..100022687,2	MCF-7	breast:
9	chr8:99999501..100001966-chr8:100003964..100006558,3	K562	blood:
10	chr8:99951388..99953620-chr8:100021426..100022985,2	K562	blood:
11	chr8:99952140..99962153-chr8:100006475..100015090,25	MCF-7	breast:
12	chr8:100025901..100029663-chr8:100033487..100035486,3	K562	blood:
13	chr8:99956694..99958282-chr8:100003200..100005842,2	MCF-7	breast:
14	chr8:99975072..99980032-chr8:99980469..99983000,5	K562	blood:
15	chr8:99989686..99991239-chr8:100020336..100022687,2	MCF-7	breast:
16	chr8:99956515..99958298-chr8:99978537..99981099,3	K562	blood:
17	chr8:100024118..100026755-chr8:100073445..100075343,2	MCF-7	breast:
18	chr8:99955273..99957309-chr8:100023910..100025896,2	K562	blood:
19	chr8:100001571..100003110-chr8:100003860..100006325,2	MCF-7	breast:
20	chr8:99999797..100001966-chr8:100003964..100007151,3	K562	blood:
21	chr8:99992871..99995113-chr8:100000836..100003780,2	MCF-7	breast:
22	chr8:99996273..99998938-chr8:99999139..100002606,5	MCF-7	breast:
23	chr8:99981694..99984396-chr8:99986309..99988286,2	K562	blood:
24	chr8:100024312..100027053-chr8:100029761..100031405,2	K562	blood:
25	chr8:100001571..100003110-chr8:100003860..100006325,2	MCF-7	breast:
26	chr8:99966073..99968633-chr8:100020306..100022554,2	K562	blood:
27	chr8:99952913..99962765-chr8:99994294..100003149,41	MCF-7	breast:
28	chr8:100020387..100022270-chr8:100223332..100224852,2	MCF-7	breast:
29	chr8:99962872..99965221-chr8:99992608..99995397,2	MCF-7	breast:
30	chr8:100067262..100071049-chr8:100071737..100074698,3	MCF-7	breast:
31	chr8:100023955..100026746-chr8:100146269..100148393,2	K562	blood:
32	chr8:100009588..100012990-chr8:100013654..100017766,5	K562	blood:
33	chr8:100043102..100045390-chr8:100048783..100050483,2	K562	blood:
34	chr8:100027143..100028710-chr8:100248941..100251194,2	MCF-7	breast:
35	chr8:100162823..100164704-chr8:100167097..100169098,2	K562	blood:
36	chr8:100023165..100025763-chr8:100036969..100038746,2	K562	blood:
37	chr8:100024345..100027040-chr8:100106649..100108605,2	MCF-7	breast:
38	chr8:100013073..100014994-chr8:100016917..100018773,2	K562	blood:
39	chr8:100087357..100089175-chr8:100091437..100093600,2	MCF-7	breast:
40	chr8:99901892..99903288-chr8:100009594..100010716,5	MCF-7	breast:
41	chr8:100043102..100045390-chr8:100048783..100050483,2	K562	blood:
42	chr8:100043379..100045451-chr8:100150795..100153462,2	MCF-7	breast:
43	chr8:100043126..100045218-chr8:100045409..100048093,2	K562	blood:
44	chr8:100125265..100128114-chr8:100129986..100133353,3	K562	blood:
45	chr8:100024340..100026866-chr8:100052293..100056237,3	MCF-7	breast:
46	chr8:100145698..100148364-chr8:100156045..100158193,2	MCF-7	breast:
47	chr8:99967373..99970274-chr8:99997572..100000017,2	K562	blood:
48	chr8:99955175..99958334-chr8:99977797..99982110,4	K562	blood:
49	chr8:100038785..100041042-chr8:100044049..100045799,2	K562	blood:
50	chr8:100023962..100027338-chr8:100028316..100036117,10	MCF-7	breast:

(count:14 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-STK3-5	chr8:100018891-100019738	l_3657_chr8:100017408-100021457_testes
2	lnc-STK3-2	chr8:100025097-100025272	ENSG00000253948.1
3	lnc-VPS13B-1	chr8:100008217-100013862	NONHSAT127942
4	lnc-STK3-2	chr8:100008991-100009194	ENSG00000253948.1
5	lnc-STK3-2	chr8:100008558-100009194	NONHSAT127943
6	lnc-OSR2-2	chr8:100132332-100132809	ENSG00000253532.1
7	lnc-STK3-5	chr8:100017409-100018868	l_3657_chr8:100017408-100021457_testes
8	lnc-OSR2-2	chr8:100131580-100131696	ENSG00000253532.1
9	lnc-VPS13B-1	chr8:100014060-100015451	NONHSAT127942
10	lnc-STK3-3	chr8:100106157-100106288	ENSG00000253562.1
11	lnc-STK3-3	chr8:100103966-100104326	ENSG00000253562.1
12	lnc-STK3-2	chr8:100025097-100025462	NONHSAT127943
13	lnc-OSR2-1	chr8:99980150-99980512	ENSG00000229625
14	lnc-STK3-5	chr8:100020741-100021457	l_3657_chr8:100017408-100021457_testes

No data

Variant related genes	Relation type
ENSG00000253180	TF binding region
ENSG00000263842	TF binding region
VPS13B	TF binding region
ENSG00000253948	TF binding region
ENSG00000253532	TF binding region
ENSG00000253562	TF binding region
ENSG00000253180	CpG island
ENSG00000263842	CpG island
VPS13B	CpG island
ENSG00000253948	CpG island
ENSG00000253532	CpG island
ENSG00000253562	CpG island
ENSG00000164924	chromatin interactions
ENSG00000104375	chromatin interactions
ENSG00000229625	chromatin interactions
ENSG00000263842	chromatin interactions
ENSG00000253532	chromatin interactions
ENSG00000164920	chromatin interactions
ENSG00000271930	chromatin interactions
ENSG00000140157	chromatin interactions
ENSG00000132549	chromatin interactions
ENSG00000001167	chromatin interactions
ENSG00000104361	chromatin interactions
ENSG00000253180	chromatin interactions
ENSG00000103769	chromatin interactions
ENSG00000188643	chromatin interactions
ENSG00000124596	chromatin interactions
ENSG00000253948	chromatin interactions

Extended variants
information (count: 6395 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:6395 , 50 per page) page: 1 2 3 4 5 6 7 ... 128

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148806777	chr8:99978297-99978298	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs563275416	chr8:99978322-99978323	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs187698225	chr8:99978380-99978381	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs142439477	chr8:99978388-99978389	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs543510847	chr8:99978391-99978392	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs192617084	chr8:99978444-99978445	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs78988450	chr8:99978465-99978466	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs146854809	chr8:99978491-99978492	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs576163991	chr8:99978551-99978552	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs184775211	chr8:99978591-99978592	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs371400052	chr8:99978592-99978593	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs187990663	chr8:99978597-99978598	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs530406519	chr8:99978604-99978605	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs543615442	chr8:99978621-99978622	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs550247493	chr8:99978648-99978649	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs570029746	chr8:99978695-99978696	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs538723062	chr8:99978716-99978717	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs192719799	chr8:99978722-99978723	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs558596039	chr8:99978735-99978736	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs79841375	chr8:99978737-99978738	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs375727154	chr8:99978804-99978805	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs565800948	chr8:99978811-99978812	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs541374193	chr8:99978857-99978858	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs184754176	chr8:99978909-99978910	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs554319021	chr8:99978936-99978937	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs568195576	chr8:99978962-99978963	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs564951644	chr8:99979003-99979004	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs561428175	chr8:99979006-99979007	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs537340756	chr8:99979007-99979008	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs190010192	chr8:99979016-99979017	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs577079829	chr8:99979060-99979061	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs181682231	chr8:99979065-99979066	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs186210392	chr8:99979221-99979222	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs553028171	chr8:99979252-99979253	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs572955995	chr8:99979305-99979306	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs541981109	chr8:99979358-99979359	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs146708214	chr8:99979394-99979395	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs530277121	chr8:99979418-99979419	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs543999147	chr8:99979429-99979430	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs62532616	chr8:99979434-99979435	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs570463446	chr8:99979436-99979437	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs397781978	chr8:99979456-99979457	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs200643986	chr8:99979457-99979458	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs374619839	chr8:99979459-99979460	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs10589609	chr8:99979530-99979531	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs201267919	chr8:99979531-99979532	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs563788286	chr8:99979534-99979535	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs10555356	chr8:99979541-99979542	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs68189932	chr8:99979547-99979548	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs199832243	chr8:99979549-99979550	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cohen syndrome	20461111	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:3598 , 50 per page) page: 1 2 3 4 5 6 7 ... 72

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99976000-99978400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr8:99976000-99978400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:99976000-99978400	Weak transcription	HMEC	breast
4	chr8:99976000-99979000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr8:99976200-99978400	Weak transcription	NHEK	skin
6	chr8:99978200-99979000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:99978200-99979000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr8:99978200-99979000	Enhancers	NHDF-Ad	bronchial
9	chr8:99978200-99979200	Enhancers	Osteobl	bone
10	chr8:99978200-99979400	Flanking Active TSS	A549	lung
11	chr8:99978200-99979400	Enhancers	HepG2	liver
12	chr8:99978200-99979800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr8:99978400-99978600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:99978400-99978600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:99978400-99978600	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr8:99978400-99978800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr8:99978400-99978800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr8:99978400-99979800	Enhancers	HMEC	breast
19	chr8:99978400-99979800	Enhancers	K562	blood
20	chr8:99978400-99979800	Enhancers	NHEK	skin
21	chr8:99978400-99980000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:99978600-99978800	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
23	chr8:99978600-99978800	Enhancers	HSMM	muscle
24	chr8:99978600-99979200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:99978600-99979600	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr8:99978600-99979800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr8:99978600-99980000	Enhancers	Fetal Intestine Large	intestine
28	chr8:99978800-99980000	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr8:99978800-99982000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr8:99979000-99982200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:99979400-99979800	Enhancers	A549	lung
32	chr8:99979600-99979800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
33	chr8:99979800-99980000	Flanking Active TSS	A549	lung
34	chr8:99979800-99982200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr8:99979800-99982200	Weak transcription	NHEK	skin
36	chr8:99980000-99980200	Enhancers	A549	lung
37	chr8:99980000-99983200	Weak transcription	Fetal Intestine Large	intestine
38	chr8:99980200-99982200	Weak transcription	A549	lung
39	chr8:99982200-99982400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr8:99982200-99982600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr8:99982200-99982600	Enhancers	NHEK	skin
42	chr8:99982200-99982800	Enhancers	A549	lung
43	chr8:99982400-99982600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr8:99982600-99986200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:99982800-99983000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr8:99983600-99983800	Enhancers	Fetal Intestine Large	intestine
47	chr8:99984400-99985000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr8:99984400-99985000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
49	chr8:99984400-99986000	ZNF genes & repeats	Spleen	Spleen
50	chr8:99984600-99984800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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