Variant report

Variant	nsv1023227
Chromosome Location	chr8:99902615-100290948
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4344)
CpG islands
(count:5806)
Chromatin interactive
region (count:333)
LncRNA
region (count:22)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:4344 , 50 per page) page: 1 2 3 4 5 6 7 ... 87

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:100124728-100124858	K562	blood:	n/a	n/a
2	ARID3A	chr8:100025358-100025487	K562	blood:	n/a	n/a
3	ARID3A	chr8:99979696-99979755	HepG2	liver:	n/a	n/a
4	ARID3A	chr8:100046132-100046815	HepG2	liver:	n/a	n/a
5	ARID3A	chr8:100025256-100025507	HepG2	liver:	n/a	n/a
6	ARID3A	chr8:100025752-100025948	K562	blood:	n/a	n/a
7	ARID3A	chr8:100103092-100103687	K562	blood:	n/a	n/a
8	ARID3A	chr8:100010143-100010485	K562	blood:	n/a	n/a
9	ARID3A	chr8:99953361-99953710	HepG2	liver:	n/a	n/a
10	ARID3A	chr8:100023747-100023947	K562	blood:	n/a	n/a
11	ARID3A	chr8:100149959-100150472	K562	blood:	n/a	n/a
12	ARID3A	chr8:100058615-100058867	K562	blood:	n/a	n/a
13	ARID3A	chr8:99906464-99906621	K562	blood:	n/a	n/a
14	ARID3A	chr8:100046312-100046577	K562	blood:	n/a	n/a
15	ARID3A	chr8:100038356-100038875	HepG2	liver:	n/a	n/a
16	ATF1	chr8:100058613-100058861	K562	blood:	n/a	n/a
17	ATF1	chr8:100278899-100278960	K562	blood:	n/a	n/a
18	ATF1	chr8:99943657-99943981	K562	blood:	n/a	n/a
19	ATF1	chr8:100150113-100150549	K562	blood:	n/a	n/a
20	ATF1	chr8:99922773-99923250	K562	blood:	n/a	n/a
21	ATF1	chr8:99939428-99939464	K562	blood:	n/a	n/a
22	ATF1	chr8:100135547-100135703	K562	blood:	n/a	n/a
23	ATF1	chr8:99989189-99989309	K562	blood:	n/a	n/a
24	ATF1	chr8:100103355-100103611	K562	blood:	n/a	n/a
25	ATF1	chr8:100249602-100249617	K562	blood:	n/a	n/a
26	ATF1	chr8:100177666-100177787	K562	blood:	n/a	n/a
27	ATF2	chr8:100025121-100025659	GM12878	blood:	n/a	n/a
28	ATF2	chr8:100024655-100026274	GM12878	blood:	n/a	n/a
29	ATF2	chr8:99986670-99987066	H1-hESC	embryonic stem cell:	n/a	n/a
30	ATF2	chr8:100092901-100093701	GM12878	blood:	n/a	n/a
31	ATF2	chr8:99956232-99956831	GM12878	blood:	n/a	n/a
32	ATF2	chr8:100025069-100025608	H1-hESC	embryonic stem cell:	n/a	n/a
33	ATF2	chr8:100093166-100093626	GM12878	blood:	n/a	n/a
34	ATF3	chr8:100103253-100103550	K562	blood:	n/a	n/a
35	ATF3	chr8:99953212-99953610	A549	lung:	n/a	n/a
36	ATF3	chr8:100150017-100150481	K562	blood:	n/a	n/a
37	ATF3	chr8:100024993-100025682	A549	lung:	n/a	n/a
38	ATF3	chr8:100025143-100025741	A549	lung:	n/a	n/a
39	BACH1	chr8:99960886-99961005	H1-hESC	embryonic stem cell:	n/a	n/a
40	BACH1	chr8:100150185-100150441	K562	blood:	n/a	n/a
41	BACH1	chr8:99950930-99950997	H1-hESC	embryonic stem cell:	n/a	n/a
42	BACH1	chr8:99952263-99955172	H1-hESC	embryonic stem cell:	n/a	n/a
43	BACH1	chr8:99956255-99957045	H1-hESC	embryonic stem cell:	n/a	n/a
44	BACH1	chr8:99986624-99986995	H1-hESC	embryonic stem cell:	n/a	n/a
45	BACH1	chr8:99913661-99913929	H1-hESC	embryonic stem cell:	n/a	n/a
46	BACH1	chr8:99960325-99960638	H1-hESC	embryonic stem cell:	n/a	n/a
47	BACH1	chr8:100025132-100025563	H1-hESC	embryonic stem cell:	n/a	n/a
48	BACH1	chr8:99924713-99925020	H1-hESC	embryonic stem cell:	n/a	n/a
49	BACH1	chr8:99951944-99951982	H1-hESC	embryonic stem cell:	n/a	n/a
50	BACH1	chr8:99957290-99957855	H1-hESC	embryonic stem cell:	n/a	n/a

(count:5806 , 50 per page) page: 1 2 3 4 5 6 7 ... 117

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:99985888-99985938	NB4	blood:	n/a
2	chr8:99954679-99954729	Caco-2	colon:	n/a
3	chr8:99959430-99959480	BJ	skin:	n/a
4	chr8:99956467-99956517	HL-60	blood:	n/a
5	chr8:100024881-100024931	BE2_C	brain:	n/a
6	chr8:100025487-100025537	CMK	blood:	n/a
7	chr8:99954679-99954729	NT2-D1	testis:	n/a
8	chr8:99959430-99959480	MCF-7	breast:	n/a
9	chr8:99916884-99916934	GM12891	blood:	n/a
10	chr8:99954432-99954482	CMK	blood:	n/a
11	chr8:99950917-99950967	HIPEpiC	eye:	n/a
12	chr8:99985888-99985938	NB4	blood:	n/a
13	chr8:99954679-99954729	Caco-2	colon:	n/a
14	chr8:99959430-99959480	BJ	skin:	n/a
15	chr8:99956467-99956517	HL-60	blood:	n/a
16	chr8:100024881-100024931	BE2_C	brain:	n/a
17	chr8:100025487-100025537	CMK	blood:	n/a
18	chr8:99954679-99954729	NT2-D1	testis:	n/a
19	chr8:99959430-99959480	MCF-7	breast:	n/a
20	chr8:99916884-99916934	GM12891	blood:	n/a
21	chr8:99954432-99954482	CMK	blood:	n/a
22	chr8:99950917-99950967	HIPEpiC	eye:	n/a
23	chr8:100025000-100025050	CMK	blood:	n/a
24	chr8:99989605-99989655	Hela-S3	cervix:	n/a
25	chr8:99986344-99986394	K562	blood:	n/a
26	chr8:99960580-99960630	SAEC	small airway:	n/a
27	chr8:99989605-99989655	GM12891	blood:	n/a
28	chr8:100025487-100025537	NHDF-neo	bronchial:	n/a
29	chr8:100025831-100025881	GM12878	blood:	n/a
30	chr8:99960843-99960893	K562	blood:	n/a
31	chr8:99953947-99953997	NHDF-neo	bronchial:	n/a
32	chr8:100157208-100157258	Jurkat	blood:	n/a
33	chr8:100025487-100025537	AG09319	gingival:	n/a
34	chr8:99959549-99959599	AG10803	skin:	n/a
35	chr8:99956467-99956517	SK-N-MC	brain:	n/a
36	chr8:99956489-99956539	AG04450	lung:	fetal
37	chr8:99938701-99938751	ProgFib	skin:	n/a
38	chr8:99950917-99950967	PrEC	prostate:	n/a
39	chr8:100025364-100025414	HCF	heart:	n/a
40	chr8:99952591-99952641	GM06990	blood:	n/a
41	chr8:99952591-99952641	NB4	blood:	n/a
42	chr8:99988676-99988726	GM06990	blood:	n/a
43	chr8:99952749-99952799	HPAEpiC	pulmonary alveolar:	n/a
44	chr8:99960580-99960630	Jurkat	blood:	n/a
45	chr8:99986344-99986394	HRCEpiC	kidney:	n/a
46	chr8:99949391-99949441	HCT-116	colon:	n/a
47	chr8:99960843-99960893	GM12892	blood:	n/a
48	chr8:99963657-99963707	PFSK-1	brain:	n/a
49	chr8:99950917-99950967	SK-N-SH	brain:	n/a
50	chr8:99962013-99962063	IMR90	lung:	fetal

(count:333 , 50 per page) page: 1 2 3 4 5 6 7

No.	Distal block	Cell Line	Cell type
1	chr8:100024034..100025700-chr8:100109623..100113452,3	MCF-7	breast:
2	chr8:100144557..100146496-chr8:100147591..100149372,3	MCF-7	breast:
3	chr8:100043379..100045451-chr8:100150795..100153462,2	MCF-7	breast:
4	chr8:100024312..100027053-chr8:100029761..100031405,2	K562	blood:
5	chr8:99941131..99944332-chr8:99944576..99947725,3	K562	blood:
6	chr8:100145698..100148364-chr8:100156045..100158193,2	MCF-7	breast:
7	chr8:100043102..100045390-chr8:100048783..100050483,2	K562	blood:
8	chr8:99981694..99984396-chr8:99986309..99988286,2	K562	blood:
9	chr8:99955175..99958334-chr8:99977797..99982110,4	K562	blood:
10	chr8:100013073..100014994-chr8:100016917..100018773,2	K562	blood:
11	chr8:100197794..100200560-chr8:100203500..100205350,2	MCF-7	breast:
12	chr8:99900255..99902088-chr8:99919103..99920638,2	MCF-7	breast:
13	chr8:99964578..99966849-chr8:99967558..99969140,2	K562	blood:
14	chr8:99971192..99972768-chr8:100008713..100010422,2	MCF-7	breast:
15	chr8:100222308..100224756-chr8:100228347..100230627,2	K562	blood:
16	chr8:99901892..99903288-chr8:100009594..100010716,5	MCF-7	breast:
17	chr8:99661906..99664329-chr8:99956094..99958895,2	MCF-7	breast:
18	chr8:100283345..100287751-chr8:100288664..100292518,5	K562	blood:
19	chr8:100225233..100227725-chr8:100239951..100242291,2	MCF-7	breast:
20	chr8:99964252..99966277-chr8:100025241..100027364,3	MCF-7	breast:
21	chr8:99986955..99988754-chr8:99989038..99991100,2	K562	blood:
22	chr8:100188351..100191240-chr8:100198710..100200651,2	K562	blood:
23	chr8:99949531..99951388-chr8:100007830..100009943,2	MCF-7	breast:
24	chr8:99949531..99951388-chr8:100007830..100009943,2	MCF-7	breast:
25	chr8:99929807..99931617-chr8:99933666..99936141,2	MCF-7	breast:
26	chr8:100253354..100255632-chr8:100258136..100261117,2	MCF-7	breast:
27	chr8:99935777..99938346-chr8:99942242..99944176,3	K562	blood:
28	chr8:100187208..100189859-chr8:100191478..100193795,2	MCF-7	breast:
29	chr8:99992779..99996058-chr8:100005718..100009836,4	MCF-7	breast:
30	chr8:100266373..100268336-chr8:100270835..100272790,2	K562	blood:
31	chr8:100023955..100026746-chr8:100146269..100148393,2	K562	blood:
32	chr8:99989686..99991239-chr8:100020336..100022687,2	MCF-7	breast:
33	chr8:99975072..99980032-chr8:99980469..99983000,5	K562	blood:
34	chr8:100023962..100027338-chr8:100028316..100036117,10	MCF-7	breast:
35	chr8:99956069..99958668-chr8:99982298..99983994,2	K562	blood:
36	chr8:100023368..100025355-chr8:100122244..100124287,2	MCF-7	breast:
37	chr8:99959441..99961550-chr8:99971989..99973976,2	K562	blood:
38	chr8:99910044..99913955-chr8:99926484..99929413,3	K562	blood:
39	chr8:100012703..100016134-chr8:100151109..100154697,3	MCF-7	breast:
40	chr8:99955273..99957309-chr8:100023910..100025896,2	K562	blood:
41	chr8:100024787..100026436-chr8:100179759..100181890,2	MCF-7	breast:
42	chr8:99901588..99905198-chr8:99953796..99957800,4	MCF-7	breast:
43	chr8:99955457..99958039-chr8:100115422..100117482,3	MCF-7	breast:
44	chr8:100222308..100224756-chr8:100228347..100230627,2	K562	blood:
45	chr8:100241348..100243532-chr8:101014262..101016207,2	MCF-7	breast:
46	chr8:99952140..99962153-chr8:100006475..100015090,25	MCF-7	breast:
47	chr8:100210858..100212558-chr8:100220865..100223573,2	MCF-7	breast:
48	chr8:99952762..99963438-chr8:100019139..100031293,37	MCF-7	breast:
49	chr8:99914629..99917036-chr8:99927739..99929359,2	MCF-7	breast:
50	chr8:100257181..100259983-chr8:100260891..100263215,2	K562	blood:

(count:22 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OSR2-2	chr8:100131580-100131696	ENSG00000253532.1
2	lnc-VPS13B-1	chr8:100008217-100013862	NONHSAT127942
3	lnc-STK3-2	chr8:100025097-100025272	ENSG00000253948.1
4	lnc-OSR2-4	chr8:99955823-99956326	ENSG00000271930.1
5	lnc-STK3-2	chr8:100008991-100009194	ENSG00000253948.1
6	lnc-STK3-5	chr8:100018891-100019738	l_3657_chr8:100017408-100021457_testes
7	lnc-STK3-3	chr8:100103966-100104326	ENSG00000253562.1
8	lnc-OSR2-2	chr8:100132332-100132809	ENSG00000253532.1
9	lnc-NIPAL2-6	chr8:99918488-99918745	NONHSAT127936
10	lnc-OSR2-1	chr8:99973656-99973712	ENSG00000229625
11	lnc-STK3-2	chr8:100008558-100009194	NONHSAT127943
12	lnc-VPS13B-1	chr8:100014060-100015451	NONHSAT127942
13	lnc-STK3-2	chr8:100025097-100025462	NONHSAT127943
14	lnc-OSR2-1	chr8:99977692-99977735	ENSG00000229625
15	lnc-OSR2-3	chr8:99956631-99957051	NONHSAT127938
16	lnc-NIPAL2-7	chr8:99933461-99933778	NONHSAT127937
17	lnc-STK3-5	chr8:100020741-100021457	l_3657_chr8:100017408-100021457_testes
18	lnc-STK3-5	chr8:100017409-100018868	l_3657_chr8:100017408-100021457_testes
19	lnc-OSR2-1	chr8:99980150-99980512	ENSG00000229625
20	lnc-OSR2-3	chr8:99958259-99958530	NONHSAT127938
21	lnc-NIPAL2-5	chr8:99954606-99954873	NONHSAT127935
22	lnc-STK3-3	chr8:100106157-100106288	ENSG00000253562.1

No data

(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
ENSG00000253180	TF binding region
ENSG00000263842	TF binding region
RN7SKP85	TF binding region
STK3	TF binding region
VPS13B	TF binding region
ENSG00000229625	TF binding region
ENSG00000236583	TF binding region
ENSG00000253948	TF binding region
ENSG00000253532	TF binding region
OSR2	TF binding region
ENSG00000253562	TF binding region
ENSG00000253415	TF binding region
MRP63P7	TF binding region
ENSG00000271930	TF binding region
ENSG00000253180	CpG island
ENSG00000263842	CpG island
RN7SKP85	CpG island
STK3	CpG island
VPS13B	CpG island
ENSG00000229625	CpG island
ENSG00000236583	CpG island
ENSG00000253948	CpG island
ENSG00000253532	CpG island
OSR2	CpG island
ENSG00000253562	CpG island
ENSG00000253415	CpG island
MRP63P7	CpG island
ENSG00000271930	CpG island
ENSG00000203865	chromatin interactions
ENSG00000095015	chromatin interactions
ENSG00000253532	chromatin interactions
ENSG00000103769	chromatin interactions
ENSG00000254312	chromatin interactions
ENSG00000104375	chromatin interactions
ENSG00000263842	chromatin interactions
ENSG00000253415	chromatin interactions
ENSG00000229625	chromatin interactions
ENSG00000270135	chromatin interactions
ENSG00000271930	chromatin interactions
ENSG00000164919	chromatin interactions
ENSG00000124596	chromatin interactions
ENSG00000104361	chromatin interactions
ENSG00000188643	chromatin interactions
ENSG00000164924	chromatin interactions
ENSG00000001167	chromatin interactions
ENSG00000223281	chromatin interactions
ENSG00000132549	chromatin interactions
ENSG00000140157	chromatin interactions
ENSG00000164920	chromatin interactions
ENSG00000253180	chromatin interactions
ENSG00000089157	chromatin interactions
ENSG00000253948	chromatin interactions

Extended variants
information (count: 12956 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:12956 , 50 per page) page: 1 2 3 4 5 6 7 ... 260

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543870632	chr8:99902653-99902654	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs546011639	chr8:99902715-99902716	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs142965500	chr8:99902790-99902791	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs528356469	chr8:99902832-99902833	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs75147632	chr8:99902834-99902835	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs557029472	chr8:99902852-99902853	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs564109464	chr8:99902962-99902963	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs373751736	chr8:99902986-99902987	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs529048083	chr8:99903023-99903024	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs139845666	chr8:99903137-99903138	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs192169223	chr8:99903141-99903142	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs550168168	chr8:99903190-99903191	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs570202189	chr8:99903225-99903226	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs184555485	chr8:99903292-99903293	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs112034889	chr8:99903310-99903311	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs566296021	chr8:99903331-99903332	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs147576666	chr8:99903389-99903390	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs555213973	chr8:99903416-99903417	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs568662200	chr8:99903418-99903419	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs141967794	chr8:99903429-99903430	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs557432623	chr8:99903507-99903508	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs577413097	chr8:99903563-99903564	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs372185277	chr8:99903584-99903585	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs546347949	chr8:99903606-99903607	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs553191526	chr8:99903607-99903608	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs375210342	chr8:99903661-99903662	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs145807597	chr8:99903736-99903737	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs62532611	chr8:99903738-99903739	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs189337846	chr8:99903765-99903766	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs34943615	chr8:99903773-99903774	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs180831222	chr8:99903804-99903805	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs201476836	chr8:99903854-99903855	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs367878135	chr8:99903855-99903856	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs78803849	chr8:99903856-99903857	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs529121494	chr8:99903857-99903858	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs397972549	chr8:99903878-99903879	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs202189073	chr8:99903879-99903880	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs111973345	chr8:99903887-99903888	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs80159239	chr8:99903935-99903936	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs79649327	chr8:99903986-99903987	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs563764693	chr8:99903999-99904000	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs148910226	chr8:99904009-99904010	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs143593746	chr8:99904045-99904046	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs566464523	chr8:99904050-99904051	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs528637733	chr8:99904066-99904067	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs115099413	chr8:99904097-99904098	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs112208132	chr8:99904138-99904139	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs537788920	chr8:99904150-99904151	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs569381332	chr8:99904156-99904157	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs531783958	chr8:99904168-99904169	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:114)

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
T-cell lymphomas	22341440	CNVD
Prostate cancer	22341455	CNVD
Renal cell carcinoma	21215367	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
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:6577 , 50 per page) page: 1 2 3 4 5 6 7 ... 132

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99897600-99913800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:99899800-99905400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr8:99900000-99904600	Enhancers	Rectal Smooth Muscle	rectum
4	chr8:99900000-99904800	Enhancers	Fetal Muscle Leg	muscle
5	chr8:99900000-99904800	Enhancers	Fetal Stomach	stomach
6	chr8:99900600-99904000	Enhancers	Fetal Lung	lung
7	chr8:99900600-99905000	Enhancers	Liver	Liver
8	chr8:99901000-99904400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:99901400-99903000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr8:99901400-99903000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr8:99901400-99903200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr8:99901600-99903000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:99901600-99903200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr8:99901600-99903400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr8:99901600-99905000	Enhancers	Ovary	ovary
16	chr8:99901800-99903000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr8:99901800-99903200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr8:99901800-99904800	Enhancers	Colon Smooth Muscle	Colon
19	chr8:99901800-99904800	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr8:99902000-99903000	Weak transcription	Adipose Nuclei	Adipose
21	chr8:99902000-99903200	Weak transcription	Stomach Smooth Muscle	stomach
22	chr8:99902000-99903200	Enhancers	K562	blood
23	chr8:99902200-99903400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:99902200-99903600	Enhancers	Fetal Muscle Trunk	muscle
25	chr8:99902400-99904400	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr8:99902400-99904600	Enhancers	HSMMtube	muscle
27	chr8:99902600-99903200	Enhancers	Fetal Kidney	kidney
28	chr8:99902600-99903200	Weak transcription	Psoas Muscle	Psoas
29	chr8:99902600-99904600	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr8:99903000-99904200	Enhancers	HSMM	muscle
31	chr8:99903000-99904400	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr8:99903000-99904600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr8:99903000-99904600	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr8:99903000-99904800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:99903200-99903400	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr8:99903200-99903400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr8:99903200-99903400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr8:99903200-99903400	Enhancers	Adipose Nuclei	Adipose
39	chr8:99903200-99903400	Enhancers	Psoas Muscle	Psoas
40	chr8:99903200-99903600	Enhancers	Left Ventricle	heart
41	chr8:99903200-99903800	Enhancers	Stomach Smooth Muscle	stomach
42	chr8:99903200-99904200	Weak transcription	K562	blood
43	chr8:99903200-99904400	Weak transcription	Fetal Kidney	kidney
44	chr8:99903200-99904600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:99903200-99904600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr8:99903200-99904600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr8:99903200-99904800	Enhancers	H1 Cell Line	embryonic stem cell
48	chr8:99903400-99904000	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr8:99903400-99904000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr8:99903400-99904200	Weak transcription	Psoas Muscle	Psoas

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