Variant report

Variant	nsv1025336
Chromosome Location	chr8:42905623-43333638
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5157)
CpG islands
(count:6049)
Chromatin interactive
region (count:499)
LncRNA
region (count:17)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

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No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:42948521-42948671	HepG2	liver:	n/a	n/a
2	ARID3A	chr8:42948558-42948665	K562	blood:	n/a	n/a
3	ARID3A	chr8:42995210-42995216	K562	blood:	n/a	n/a
4	ARID3A	chr8:42911156-42911499	K562	blood:	n/a	n/a
5	ARID3A	chr8:42948942-42949243	K562	blood:	n/a	n/a
6	ARID3A	chr8:42911036-42911506	HepG2	liver:	n/a	n/a
7	ARID3A	chr8:42949085-42949144	HepG2	liver:	n/a	n/a
8	ARID3A	chr8:42905791-42906347	HepG2	liver:	n/a	n/a
9	ARID3A	chr8:42979697-42979897	K562	blood:	n/a	n/a
10	ATF1	chr8:43092711-43094031	K562	blood:	n/a	n/a
11	ATF1	chr8:42928820-42929019	K562	blood:	n/a	n/a
12	ATF1	chr8:43094373-43097182	K562	blood:	n/a	n/a
13	ATF1	chr8:42979742-42980000	K562	blood:	n/a	n/a
14	ATF2	chr8:42910904-42912768	GM12878	blood:	n/a	n/a
15	ATF2	chr8:42997157-42997964	GM12878	blood:	n/a	n/a
16	ATF2	chr8:43018078-43018601	GM12878	blood:	n/a	n/a
17	ATF2	chr8:43018176-43018624	GM12878	blood:	n/a	n/a
18	ATF2	chr8:42997232-42997736	GM12878	blood:	n/a	n/a
19	ATF2	chr8:43017041-43017588	GM12878	blood:	n/a	n/a
20	ATF2	chr8:43015258-43015786	GM12878	blood:	n/a	n/a
21	ATF2	chr8:43015061-43015802	GM12878	blood:	n/a	n/a
22	ATF2	chr8:42948303-42949199	GM12878	blood:	n/a	n/a
23	ATF2	chr8:42911078-42911552	GM12878	blood:	n/a	n/a
24	ATF2	chr8:43108629-43109665	GM12878	blood:	n/a	n/a
25	ATF2	chr8:43108749-43109645	GM12878	blood:	n/a	n/a
26	ATF2	chr8:43017040-43017623	GM12878	blood:	n/a	n/a
27	ATF2	chr8:42912325-42912880	GM12878	blood:	n/a	n/a
28	ATF3	chr8:43147119-43147233	K562	blood:	n/a	n/a
29	ATF3	chr8:43135865-43136266	HepG2	liver:	n/a	n/a
30	ATF3	chr8:43093031-43093316	GM12878	blood:	n/a	n/a
31	ATF3	chr8:42995383-42995655	K562	blood:	n/a	n/a
32	ATF3	chr8:43136037-43136199	HepG2	liver:	n/a	n/a
33	ATF3	chr8:42979485-42979922	A549	lung:	n/a	n/a
34	ATF3	chr8:43092744-43093362	H1-hESC	embryonic stem cell:	n/a	n/a
35	ATF3	chr8:43135995-43136320	GM12878	blood:	n/a	n/a
36	ATF3	chr8:42995331-42995646	K562	blood:	n/a	n/a
37	ATF3	chr8:43092762-43093021	GM12878	blood:	n/a	n/a
38	ATF3	chr8:42911048-42911580	A549	lung:	n/a	n/a
39	ATF3	chr8:42911070-42911538	A549	lung:	n/a	n/a
40	ATF3	chr8:43136024-43136278	K562	blood:	n/a	n/a
41	BACH1	chr8:42996113-42996297	H1-hESC	embryonic stem cell:	n/a	n/a
42	BACH1	chr8:42927066-42927183	K562	blood:	n/a	n/a
43	BACH1	chr8:43092590-43097183	K562	blood:	n/a	n/a
44	BACH1	chr8:42911129-42911481	H1-hESC	embryonic stem cell:	n/a	n/a
45	BACH1	chr8:42911714-42911943	H1-hESC	embryonic stem cell:	n/a	n/a
46	BATF	chr8:43016840-43017557	GM12878	blood:	n/a	n/a
47	BATF	chr8:43015293-43015668	GM12878	blood:	n/a	n/a
48	BATF	chr8:42995343-42995655	GM12878	blood:	n/a	n/a
49	BATF	chr8:43109976-43110180	GM12878	blood:	n/a	n/a
50	BATF	chr8:43108719-43109805	GM12878	blood:	n/a	chr8:43109272-43109283

(count:6049 , 50 per page) page: 1 2 3 4 5 6 7 ... 121

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:42947797-42947847	NT2-D1	testis:	n/a
2	chr8:43132507-43132557	HRE	kidney:	n/a
3	chr8:42946331-42946381	NHDF-neo	bronchial:	n/a
4	chr8:43129374-43129424	PANC-1	pancreas:	n/a
5	chr8:42995659-42995709	LNCaP	prostate:	n/a
6	chr8:43102605-43102655	HPAEpiC	pulmonary alveolar:	n/a
7	chr8:43035454-43035504	AG10803	skin:	n/a
8	chr8:43147439-43147489	HMEC	breast:	n/a
9	chr8:43132256-43132306	HEEpiC	esophagus:	n/a
10	chr8:42948552-42948602	NHBE	bronchial:	n/a
11	chr8:42947797-42947847	NT2-D1	testis:	n/a
12	chr8:43132507-43132557	HRE	kidney:	n/a
13	chr8:42946331-42946381	NHDF-neo	bronchial:	n/a
14	chr8:43129374-43129424	PANC-1	pancreas:	n/a
15	chr8:42995659-42995709	LNCaP	prostate:	n/a
16	chr8:43102605-43102655	HPAEpiC	pulmonary alveolar:	n/a
17	chr8:43035454-43035504	AG10803	skin:	n/a
18	chr8:43147439-43147489	HMEC	breast:	n/a
19	chr8:43132256-43132306	HEEpiC	esophagus:	n/a
20	chr8:42948552-42948602	NHBE	bronchial:	n/a
21	chr8:42951235-42951285	NT2-D1	testis:	n/a
22	chr8:43147581-43147631	HCPEpiC	choroid plexus:	n/a
23	chr8:43136445-43136495	NB4	blood:	n/a
24	chr8:43131260-43131310	T-47D	breast:	n/a
25	chr8:43136327-43136377	HUVEC	blood vessel:	n/a
26	chr8:43132125-43132175	CMK	blood:	n/a
27	chr8:42948687-42948737	HepG2	liver:	n/a
28	chr8:43132125-43132175	MCF10A-Er-Src	breast:	n/a
29	chr8:42978149-42978199	HMEC	breast:	n/a
30	chr8:43105801-43105851	IMR90	lung:	fetal
31	chr8:42911341-42911391	HEK293	kidney:	embryo
32	chr8:42992137-42992187	H1-hESC	embryonic stem cell:	embryo
33	chr8:43102605-43102655	U87	brain:	n/a
34	chr8:43101403-43101453	A549	lung:	n/a
35	chr8:43102008-43102058	AG09309	skin:	n/a
36	chr8:43147439-43147489	MCF-7	breast:	n/a
37	chr8:43058931-43058981	PrEC	prostate:	n/a
38	chr8:43101403-43101453	AG09309	skin:	n/a
39	chr8:43146218-43146268	K562	blood:	n/a
40	chr8:43136162-43136212	HRPEpiC	eye:	n/a
41	chr8:42911308-42911358	GM12892	blood:	n/a
42	chr8:43059756-43059806	HPAEpiC	pulmonary alveolar:	n/a
43	chr8:43131656-43131706	PrEC	prostate:	n/a
44	chr8:43131535-43131585	HepG2	liver:	n/a
45	chr8:42948482-42948532	AG09309	skin:	n/a
46	chr8:43131431-43131481	ProgFib	skin:	n/a
47	chr8:42911370-42911420	PANC-1	pancreas:	n/a
48	chr8:43136327-43136377	HRPEpiC	eye:	n/a
49	chr8:43132256-43132306	AG04449	skin:	fetal
50	chr8:43147397-43147447	HRE	kidney:	n/a

(count:499 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Distal block	Cell Line	Cell type
1	chr17:57913947..57916769-chr8:42908901..42912808,3	MCF-7	breast:
2	chr14:84694170..84695170-chr8:43092429..43093281,3	MCF-7	breast:
3	chr8:42947579..42949100-chr8:43300446..43303387,2	MCF-7	breast:
4	chr8:42919085..42922343-chr8:42927519..42930325,3	K562	blood:
5	chr6:36979663..36980663-chr8:43092429..43093270,3	MCF-7	breast:
6	chr8:43091408..43093800-chr8:43095231..43097056,5	K562	blood:
7	chr10:122003543..122004063-chr8:43094562..43095217,2	MCF-7	breast:
8	chr8:43095396..43095932-chrX:124181042..124181542,2	MCF-7	breast:
9	chr8:42904040..42908767-chr8:42909765..42913040,6	MCF-7	breast:
10	chr7:83723558..83724078-chr8:43092279..43093244,4	MCF-7	breast:
11	chr2:162166745..162168245-chr8:43096750..43098253,2	MCF-7	breast:
12	chr13:40005558..40007078-chr8:43091430..43094429,2	K562	blood:
13	chr8:42948599..42949121-chr8:42995318..42995873,2	MCF-7	breast:
14	chr10:29693523..29694043-chr8:43096231..43096753,2	MCF-7	breast:
15	chr8:42994395..42997262-chr8:42999096..43003563,5	MCF-7	breast:
16	chr8:43091410..43092930-chrX:25126045..25127562,2	MCF-7	breast:
17	chr20:56089143..56089800-chr8:43092428..43092931,2	MCF-7	breast:
18	chr8:42697938..42699584-chr8:42910062..42912645,3	K562	blood:
19	chr20:46133444..46136258-chr8:43092929..43095847,2	MCF-7	breast:
20	chr11:25259489..25259989-chr8:43095397..43095932,2	MCF-7	breast:
21	chr8:42989764..42991726-chr8:42994405..42997108,2	MCF-7	breast:
22	chr20:45876225..45877780-chr8:43091409..43092910,2	MCF-7	breast:
23	chr8:42936108..42937994-chr8:42946446..42950235,3	MCF-7	breast:
24	chr8:43092769..43093431-chrX:124181042..124182022,3	MCF-7	breast:
25	chr3:39041231..39041731-chr8:43093864..43094702,2	MCF-7	breast:
26	chr8:43064558..43067079-chr8:43069126..43070998,2	K562	blood:
27	chr1:105685482..105686002-chr8:43092410..43092930,2	MCF-7	breast:
28	chr20:49347182..49349755-chr8:43091430..43094429,2	MCF-7	breast:
29	chr13:40005578..40008559-chr8:43094898..43096733,3	K562	blood:
30	chr4:110588789..110589289-chr8:43092779..43093429,2	MCF-7	breast:
31	chr8:38644109..38644833-chr8:43092928..43093429,2	HCT-116	colon:
32	chr8:43091410..43095453-chrX:124180042..124183022,4	K562	blood:
33	chr5:51232946..51233926-chr8:43095952..43096652,2	MCF-7	breast:
34	chr11:115753160..115753680-chr8:43092431..43093272,3	MCF-7	breast:
35	chr2:58241265..58242265-chr8:43096231..43096912,2	MCF-7	breast:
36	chr8:42985425..42992355-chr8:42993850..42999746,10	K562	blood:
37	chr21:28250452..28250971-chr8:43096088..43096724,2	MCF-7	breast:
38	chr4:120182141..120185141-chr8:43091429..43094430,3	MCF-7	breast:
39	chr8:42908249..42910556-chr8:42993744..42996687,2	K562	blood:
40	chr11:123166232..123169232-chr8:43091408..43092930,3	K562	blood:
41	chr3:150524473..150525379-chr8:43092408..43093387,2	MCF-7	breast:
42	chr1:188145515..188146514-chr8:43092279..43093387,3	MCF-7	breast:
43	chr20:52195113..52195833-chr8:43092929..43093765,2	MCF-7	breast:
44	chr8:43093713..43095453-chr8:145733548..145735690,2	MCF-7	breast:
45	chr8:43086135..43088781-chr8:43090762..43093391,2	K562	blood:
46	chr12:61190187..61191167-chr8:43092261..43093429,5	MCF-7	breast:
47	chr1:147040409..147040909-chr8:43093736..43094324,2	MCF-7	breast:
48	chr13:36122141..36125141-chr8:43091409..43095040,5	MCF-7	breast:
49	chr2:109955404..109955904-chr8:43092929..43093789,2	MCF-7	breast:
50	chr8:43083855..43085786-chr8:43086254..43089170,2	K562	blood:

(count:17 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HGSNAT-7	chr8:43303948-43304047	NONHSAT126356
2	lnc-RNF170-1	chr8:43097495-43097508	NONHSAT126341
3	lnc-RNF170-1	chr8:43096866-43097076	NONHSAT126341
4	lnc-RNF170-5	chr8:43095855-43096073	NONHSAT126340
5	lnc-HGSNAT-7	chr8:43306599-43306780	NONHSAT126356
6	lnc-HGSNAT-4	chr8:43169091-43169343	NONHSAT126351
7	lnc-HGSNAT-2	chr8:43108875-43108959	NONHSAT126346
8	lnc-HGSNAT-7	chr8:43307943-43308055	NONHSAT126356
9	lnc-HGSNAT-5	chr8:43233441-43233652	NONHSAT126354
10	lnc-HGSNAT-6	chr8:43236787-43237091	NONHSAT126355
11	lnc-RNF170-1	chr8:43096867-43097076	XLOC_007077
12	lnc-HGSNAT-7	chr8:43299491-43299558	NONHSAT126356
13	lnc-HGSNAT-7	chr8:43298045-43298224	NONHSAT126356
14	lnc-RNF170-3	chr8:42981138-42981540	NONHSAT126328
15	lnc-HGSNAT-2	chr8:43109018-43109232	NONHSAT126346
16	lnc-RNF170-5	chr8:43094654-43095063	NONHSAT126340
17	lnc-RNF170-1	chr8:43097496-43097508	XLOC_007077

No data

(count:3 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	FNTA	hsa-miR-16-5p	chr8:42940578-42940585
2	FNTA	hsa-miR-16-5p	chr8:42940558-42940582
3	FNTA	hsa-miR-16-5p	chr8:42940575-42940581

Variant related genes	Relation type
ENSG00000250637	TF binding region
VN1R46P	TF binding region
ENSG00000255166	TF binding region
ENSG00000201329	TF binding region
ENSG00000255497	TF binding region
AFG3L2P1	TF binding region
ENSG00000253884	TF binding region
ENSG00000253186	TF binding region
ENSG00000254342	TF binding region
ENSG00000254198	TF binding region
RNU1-124P	TF binding region
RN7SKP41	TF binding region
HGSNAT	TF binding region
POTEA	TF binding region
FNTA	TF binding region
POMK	TF binding region
ENSG00000253486	TF binding region
ENSG00000253707	TF binding region
RNU6-104P	TF binding region
ENSG00000264094	TF binding region
ENSG00000253312	TF binding region
ENSG00000234713	TF binding region
ENSG00000250637	CpG island
VN1R46P	CpG island
ENSG00000255166	CpG island
ENSG00000201329	CpG island
ENSG00000255497	CpG island
AFG3L2P1	CpG island
ENSG00000253884	CpG island
ENSG00000253186	CpG island
ENSG00000254342	CpG island
ENSG00000254198	CpG island
RNU1-124P	CpG island
RN7SKP41	CpG island
HGSNAT	CpG island
POTEA	CpG island
FNTA	CpG island
POMK	CpG island
ENSG00000253486	CpG island
ENSG00000253707	CpG island
RNU6-104P	CpG island
ENSG00000264094	CpG island
ENSG00000253312	CpG island
ENSG00000234713	CpG island
ENSG00000135070	chromatin interactions
ENSG00000266044	chromatin interactions
ENSG00000254198	chromatin interactions
ENSG00000204569	chromatin interactions
ENSG00000222894	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000238509	chromatin interactions
ENSG00000136492	chromatin interactions
ENSG00000146192	chromatin interactions
ENSG00000253486	chromatin interactions
ENSG00000230992	chromatin interactions
ENSG00000200731	chromatin interactions
ENSG00000131931	chromatin interactions
ENSG00000258429	chromatin interactions
ENSG00000167700	chromatin interactions
ENSG00000066322	chromatin interactions
ENSG00000184825	chromatin interactions
ENSG00000131051	chromatin interactions
ENSG00000155957	chromatin interactions
ENSG00000159063	chromatin interactions
ENSG00000087191	chromatin interactions
ENSG00000185900	chromatin interactions
ENSG00000197324	chromatin interactions
ENSG00000234713	chromatin interactions
ENSG00000173349	chromatin interactions
ENSG00000062716	chromatin interactions
ENSG00000111371	chromatin interactions
ENSG00000120925	chromatin interactions
ENSG00000108654	chromatin interactions
ENSG00000119844	chromatin interactions
ENSG00000165102	chromatin interactions
ENSG00000108592	chromatin interactions
ENSG00000245888	chromatin interactions
ENSG00000267280	chromatin interactions
ENSG00000167553	chromatin interactions
ENSG00000125968	chromatin interactions
ENSG00000141741	chromatin interactions
ENSG00000197903	chromatin interactions
ENSG00000079785	chromatin interactions
ENSG00000177731	chromatin interactions
ENSG00000163636	chromatin interactions
ENSG00000124171	chromatin interactions
ENSG00000100429	chromatin interactions
ENSG00000187013	chromatin interactions
ENSG00000121068	chromatin interactions
ENSG00000163466	chromatin interactions
ENSG00000145390	chromatin interactions
ENSG00000167513	chromatin interactions
ENSG00000116774	chromatin interactions
ENSG00000147526	chromatin interactions
ENSG00000135900	chromatin interactions
ENSG00000136021	chromatin interactions
ENSG00000179119	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000168522	chromatin interactions
ENSG00000168172	chromatin interactions
ENSG00000169189	chromatin interactions

Extended variants
information (count: 10247 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:10247 , 50 per page) page: 1 2 3 4 5 6 7 ... 205

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372183889	chr8:42905710-42905711	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs188976281	chr8:42905717-42905718	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs374166727	chr8:42905727-42905728	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs192469119	chr8:42905728-42905729	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs184433454	chr8:42905738-42905739	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs75110172	chr8:42905765-42905766	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs575712879	chr8:42905781-42905782	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs187339925	chr8:42905787-42905788	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs552588875	chr8:42905821-42905822	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs557456168	chr8:42905835-42905836	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs577660108	chr8:42905842-42905843	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs540365794	chr8:42905874-42905875	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs191794960	chr8:42905939-42905940	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs184012061	chr8:42906078-42906079	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs189152312	chr8:42906079-42906080	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs181719675	chr8:42906083-42906084	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs531950260	chr8:42906109-42906110	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs76615879	chr8:42906139-42906140	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs35390123	chr8:42906157-42906158	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs556770217	chr8:42906161-42906162	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs150709724	chr8:42906307-42906308	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs185680225	chr8:42906399-42906400	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs571391661	chr8:42906408-42906409	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs113007398	chr8:42906428-42906429	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs573515107	chr8:42906447-42906448	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs546717085	chr8:42906491-42906492	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs568592378	chr8:42906495-42906496	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs13249595	chr8:42906503-42906504	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs114972915	chr8:42906619-42906620	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs535469913	chr8:42906622-42906623	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs149424237	chr8:42906639-42906640	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs368041629	chr8:42906643-42906644	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs542429307	chr8:42906686-42906687	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs559601087	chr8:42906747-42906748	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs370496500	chr8:42906824-42906825	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs569533638	chr8:42906838-42906839	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs538200773	chr8:42906853-42906854	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs558317199	chr8:42906854-42906855	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs578132678	chr8:42906900-42906901	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs533845826	chr8:42906934-42906935	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs553921884	chr8:42907016-42907017	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs573639927	chr8:42907067-42907068	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs542649104	chr8:42907097-42907098	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs573012555	chr8:42907121-42907122	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs190586533	chr8:42907174-42907175	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs576277433	chr8:42907177-42907178	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs545009418	chr8:42907253-42907254	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs565258410	chr8:42907254-42907255	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs10103044	chr8:42907267-42907268	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs546652076	chr8:42907288-42907289	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:116)

Disease	PMID	Source
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	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
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	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
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hepatocellular carcinoma	16750200	CNVD
Bladder cancer	19088036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17001308	CNVD
Breast cancer	17157792	CNVD
Cancer	17001308	CNVD
Cancer	18840272	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Chordoma	18071362	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21785460	CNVD
Rhabdomyosarcoma	16790082	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Medulloblastoma	19270706	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Breast cancer	21045282	CNVD
Lung cancer	17925434	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Sezary syndrome	18413736	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Intracranial aneurysm	16715129	CNVD
early-passage human iPS cells	21368824	CNVD
Cancer	20164920	CNVD
Lung adenocarcinoma	21935476	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Mental retardation	17124404	CNVD
Schizophrenia	23813976	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:6996 , 50 per page) page: 1 2 3 4 5 6 7 ... 140

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42901800-42910600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:42904800-42906600	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr8:42905200-42906000	Enhancers	Gastric	stomach
4	chr8:42905200-42906800	Enhancers	HepG2	liver
5	chr8:42905200-42907000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr8:42905200-42910400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr8:42905400-42910600	Weak transcription	Pancreas	Pancrea
8	chr8:42905800-42906200	Enhancers	A549	lung
9	chr8:42905800-42906600	Enhancers	Fetal Intestine Large	intestine
10	chr8:42905800-42906800	Enhancers	Duodenum Mucosa	Duodenum
11	chr8:42905800-42907400	Enhancers	Fetal Intestine Small	intestine
12	chr8:42906000-42910000	Weak transcription	Gastric	stomach
13	chr8:42906200-42910200	Weak transcription	A549	lung
14	chr8:42906600-42906800	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr8:42906600-42907200	Weak transcription	Fetal Intestine Large	intestine
16	chr8:42906800-42907200	Bivalent Enhancer	HepG2	liver
17	chr8:42906800-42910000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr8:42906800-42910600	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr8:42907000-42910600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr8:42907200-42907400	Enhancers	Fetal Intestine Large	intestine
21	chr8:42907400-42909800	Weak transcription	Fetal Intestine Small	intestine
22	chr8:42907400-42910200	Weak transcription	Fetal Intestine Large	intestine
23	chr8:42907800-42910800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:42908200-42908400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr8:42908400-42910000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr8:42909200-42910400	Enhancers	Brain Hippocampus Middle	brain
27	chr8:42909400-42909600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr8:42909400-42909800	Enhancers	Dnd41	blood
29	chr8:42909400-42910600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr8:42909400-42910600	Enhancers	Brain Cingulate Gyrus	brain
31	chr8:42909400-42910600	Enhancers	Brain Substantia Nigra	brain
32	chr8:42909600-42910200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:42909600-42910200	Enhancers	GM12878-XiMat	blood
34	chr8:42909600-42910400	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr8:42909600-42910400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr8:42909600-42910600	Enhancers	Brain Anterior Caudate	brain
37	chr8:42909800-42910000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr8:42909800-42910000	Enhancers	Lung	lung
39	chr8:42909800-42910200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr8:42909800-42910200	Enhancers	Hela-S3	cervix
41	chr8:42909800-42910200	Enhancers	K562	blood
42	chr8:42909800-42910200	Enhancers	NHDF-Ad	bronchial
43	chr8:42909800-42910400	Bivalent Enhancer	HepG2	liver
44	chr8:42909800-42910400	Enhancers	NHLF	lung
45	chr8:42909800-42910400	Enhancers	Osteobl	bone
46	chr8:42909800-42910600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr8:42909800-42910600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr8:42909800-42910600	Enhancers	Fetal Intestine Small	intestine
49	chr8:42909800-42911000	Flanking Active TSS	Dnd41	blood
50	chr8:42910000-42910200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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