Variant report

Variant	nsv1031846
Chromosome Location	chr8:96380353-96501647
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:415)
CpG islands
(count:367)
Chromatin interactive
region (count:39)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:415 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr8:96391345-96391544	K562	blood:	n/a	n/a
2	ATF1	chr8:96398845-96399123	K562	blood:	n/a	n/a
3	BACH1	chr8:96420287-96420578	H1-hESC	embryonic stem cell:	n/a	n/a
4	BATF	chr8:96480282-96480525	GM12878	blood:	n/a	n/a
5	BATF	chr8:96388436-96389094	GM12878	blood:	n/a	n/a
6	BHLHE40	chr8:96481569-96481741	GM12878	blood:	n/a	n/a
7	BHLHE40	chr8:96399044-96399107	K562	blood:	n/a	n/a
8	BHLHE40	chr8:96423422-96423554	K562	blood:	n/a	chr8:96423463-96423476 chr8:96423464-96423473 chr8:96423465-96423474 chr8:96423459-96423480 chr8:96423465-96423474 chr8:96423466-96423475
9	CBX3	chr8:96478331-96478912	HCT-116	colon:	n/a	n/a
10	CBX3	chr8:96478360-96478944	HCT-116	colon:	n/a	n/a
11	CEBPB	chr8:96470129-96470357	IMR90	lung:	n/a	n/a
12	CEBPB	chr8:96474317-96474538	HepG2	liver:	n/a	n/a
13	CEBPB	chr8:96484759-96485089	IMR90	lung:	n/a	chr8:96484909-96484926
14	CEBPB	chr8:96484840-96485017	H1-hESC	embryonic stem cell:	n/a	chr8:96484909-96484926
15	CEBPB	chr8:96478325-96478326	K562	blood:	n/a	n/a
16	CEBPB	chr8:96449408-96449593	A549	lung:	n/a	chr8:96449516-96449527
17	CEBPB	chr8:96417560-96418117	IMR90	lung:	n/a	n/a
18	CEBPB	chr8:96449382-96449610	IMR90	lung:	n/a	chr8:96449516-96449527
19	CEBPB	chr8:96478191-96478453	HepG2	liver:	n/a	chr8:96478350-96478361
20	CEBPB	chr8:96445313-96445477	H1-hESC	embryonic stem cell:	n/a	n/a
21	CEBPB	chr8:96449345-96449721	HepG2	liver:	n/a	chr8:96449516-96449527
22	CEBPB	chr8:96388347-96389008	GM12878	blood:	n/a	n/a
23	CEBPD	chr8:96391294-96391643	K562	blood:	n/a	n/a
24	CHD2	chr8:96420375-96420546	Hela-S3	cervix:	n/a	n/a
25	CTBP2	chr8:96442803-96443791	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr8:96494000-96494150	AG04449	skin:	n/a	chr8:96494027-96494040
27	CTCF	chr8:96395340-96395490	MCF-7	breast:	n/a	n/a
28	CTCF	chr8:96398960-96399110	GM12875	blood:	n/a	n/a
29	CTCF	chr8:96398941-96399041	Kidney_OC	kidney:	n/a	n/a
30	CTCF	chr8:96398891-96399097	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr8:96398857-96399122	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr8:96399040-96399190	HCT-116	colon:	n/a	n/a
33	CTCF	chr8:96398960-96399110	HepG2	liver:	n/a	n/a
34	CTCF	chr8:96398900-96399050	RPTEC	kidney:	n/a	n/a
35	CTCF	chr8:96424000-96424150	GM12865	blood:	n/a	n/a
36	CTCF	chr8:96398900-96399050	GM12865	blood:	n/a	n/a
37	CTCF	chr8:96395419-96395541	IMR90	lung:	n/a	n/a
38	CTCF	chr8:96398920-96399070	A549	lung:	n/a	n/a
39	CTCF	chr8:96398880-96399030	NHEK	skin:	n/a	n/a
40	CTCF	chr8:96439995-96440028	Lung_OC	lung:	n/a	n/a
41	CTCF	chr8:96398900-96399050	GM12867	blood:	n/a	n/a
42	CTCF	chr8:96398900-96399050	HMEC	breast:	n/a	n/a
43	CTCF	chr8:96446480-96446630	GM12867	blood:	n/a	n/a
44	CTCF	chr8:96398920-96399070	GM12872	blood:	n/a	n/a
45	CTCF	chr8:96398714-96399249	HCT-116	colon:	n/a	n/a
46	CTCF	chr8:96398920-96399070	BE2_C	brain:	n/a	n/a
47	CTCF	chr8:96398880-96399030	GM12872	blood:	n/a	n/a
48	CTCF	chr8:96398906-96399062	GM19238	blood:	n/a	n/a
49	CTCF	chr8:96398805-96399182	GM12878	blood:	n/a	n/a
50	CTCF	chr8:96406460-96406610	GM12865	blood:	n/a	n/a

(count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:96418790-96418840	GM06990	blood:	n/a
2	chr8:96418790-96418840	GM06990	blood:	n/a
3	chr8:96393868-96393918	IMR90	lung:	fetal
4	chr8:96443153-96443203	ProgFib	skin:	n/a
5	chr8:96394047-96394097	IMR90	lung:	fetal
6	chr8:96393868-96393918	SK-N-MC	brain:	n/a
7	chr8:96387677-96387727	HIPEpiC	eye:	n/a
8	chr8:96443153-96443203	HNPCEpiC	eye:	n/a
9	chr8:96387677-96387727	MCF10A-Er-Src	breast:	n/a
10	chr8:96497618-96497668	MCF10A-Er-Src	breast:	n/a
11	chr8:96387677-96387727	PFSK-1	brain:	n/a
12	chr8:96387677-96387727	ProgFib	skin:	n/a
13	chr8:96443153-96443203	PANC-1	pancreas:	n/a
14	chr8:96393868-96393918	GM06990	blood:	n/a
15	chr8:96443153-96443203	Jurkat	blood:	n/a
16	chr8:96418790-96418840	U87	brain:	n/a
17	chr8:96393868-96393918	PANC-1	pancreas:	n/a
18	chr8:96394047-96394097	MCF-7	breast:	n/a
19	chr8:96497618-96497668	HNPCEpiC	eye:	n/a
20	chr8:96387677-96387727	HCM	heart:	n/a
21	chr8:96418790-96418840	ProgFib	skin:	n/a
22	chr8:96497618-96497668	LNCaP	prostate:	n/a
23	chr8:96497618-96497668	MCF-7	breast:	n/a
24	chr8:96497618-96497668	GM06990	blood:	n/a
25	chr8:96497618-96497668	HRPEpiC	eye:	n/a
26	chr8:96443153-96443203	HPAEpiC	pulmonary alveolar:	n/a
27	chr8:96418790-96418840	NHDF-neo	bronchial:	n/a
28	chr8:96394047-96394097	LNCaP	prostate:	n/a
29	chr8:96387677-96387727	HRCEpiC	kidney:	n/a
30	chr8:96387677-96387727	Hepatocyte	liver:	n/a
31	chr8:96393868-96393918	GM19239	blood:	n/a
32	chr8:96393868-96393918	H1-hESC	embryonic stem cell:	embryo
33	chr8:96393868-96393918	HAEpiC	amniotic membrane:	n/a
34	chr8:96443153-96443203	HCF	heart:	n/a
35	chr8:96443153-96443203	NH-A	brain:	n/a
36	chr8:96393868-96393918	HMEC	breast:	n/a
37	chr8:96418790-96418840	HCPEpiC	choroid plexus:	n/a
38	chr8:96418790-96418840	Jurkat	blood:	n/a
39	chr8:96394047-96394097	HRCEpiC	kidney:	n/a
40	chr8:96418790-96418840	HNPCEpiC	eye:	n/a
41	chr8:96393868-96393918	A549	lung:	n/a
42	chr8:96497618-96497668	U87	brain:	n/a
43	chr8:96394047-96394097	HL-60	blood:	n/a
44	chr8:96387677-96387727	NB4	blood:	n/a
45	chr8:96387677-96387727	HUVEC	blood vessel:	n/a
46	chr8:96387677-96387727	NHBE	bronchial:	n/a
47	chr8:96418790-96418840	SK-N-SH	brain:	n/a
48	chr8:96418790-96418840	HCT-116	colon:	n/a
49	chr8:96418790-96418840	AoSMC	blood vessel:	n/a
50	chr8:96394047-96394097	AG10803	skin:	n/a

(count:39 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:96398409..96400158-chr8:96402287..96404999,2	K562	blood:
2	chr8:96475186..96478156-chr8:96479951..96482141,2	K562	blood:
3	chr8:96448397..96451100-chr8:96451208..96454533,3	MCF-7	breast:
4	chr8:96370825..96374259-chr8:96378981..96380803,3	MCF-7	breast:
5	chr8:96405823..96408644-chr8:96412280..96414202,2	K562	blood:
6	chr8:96361749..96363597-chr8:96404852..96407172,2	MCF-7	breast:
7	chr8:96378611..96380607-chr8:96388094..96389903,3	MCF-7	breast:
8	chr8:96395483..96396047-chr8:96860958..96861815,2	MCF-7	breast:
9	chr8:96394533..96397301-chr8:96397590..96400549,2	K562	blood:
10	chr8:96388697..96390727-chr8:96393564..96396229,2	K562	blood:
11	chr8:96475902..96478183-chr8:96480262..96482301,2	K562	blood:
12	chr8:96398409..96400158-chr8:96402287..96404999,2	K562	blood:
13	chr8:96430126..96432297-chr8:96457329..96459845,2	K562	blood:
14	chr8:96317358..96318200-chr8:96398470..96399351,2	MCF-7	breast:
15	chr8:96403419..96405368-chr8:96406859..96408584,2	MCF-7	breast:
16	chr8:96388697..96390727-chr8:96393564..96396229,2	K562	blood:
17	chr8:96398658..96400358-chr8:96400929..96403787,2	K562	blood:
18	chr8:96378611..96380607-chr8:96388094..96389903,3	MCF-7	breast:
19	chr8:96398658..96400358-chr8:96400929..96403787,2	K562	blood:
20	chr8:96466484..96468779-chr8:96473364..96475271,2	K562	blood:
21	chr8:96403419..96405368-chr8:96406859..96408584,2	MCF-7	breast:
22	chr8:96347218..96348000-chr8:96398502..96399465,2	MCF-7	breast:
23	chr8:96475902..96478183-chr8:96480262..96482301,2	K562	blood:
24	chr8:96394533..96397301-chr8:96397590..96400549,2	K562	blood:
25	chr3:40507548..40508387-chr8:96488685..96489340,2	MCF-7	breast:
26	chr8:96405059..96407686-chr8:96436292..96438669,2	K562	blood:
27	chr1:121484899..121485680-chr8:96398632..96399542,2	MCF-7	breast:
28	chr8:96405059..96407686-chr8:96436292..96438669,2	K562	blood:
29	chr8:96405823..96408644-chr8:96412280..96414202,2	K562	blood:
30	chr8:96495853..96497993-chr8:96501094..96502749,2	K562	blood:
31	chr8:96466484..96468779-chr8:96473364..96475271,2	K562	blood:
32	chr8:96448397..96451100-chr8:96451208..96454533,3	MCF-7	breast:
33	chr8:96317394..96318355-chr8:96398480..96399433,5	MCF-7	breast:
34	chr8:96475186..96478156-chr8:96479951..96482141,2	K562	blood:
35	chr8:96495853..96497993-chr8:96501094..96502749,2	K562	blood:
36	chr8:96480054..96482091-chr8:96490251..96491992,2	K562	blood:
37	chr8:96480054..96482091-chr8:96490251..96491992,2	K562	blood:
38	chr8:96430126..96432297-chr8:96457329..96459845,2	K562	blood:
39	chr8:96410944..96413465-chr8:96415698..96417664,2	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PLEKHF2-2	chr8:96444854-96445008	ENSG00000253773.1
2	lnc-PLEKHF2-2	chr8:96444854-96445008	NONHSAT127831
3	lnc-PLEKHF2-2	chr8:96444854-96445008	NONHSAT127837
4	lnc-PLEKHF2-2	chr8:96444865-96445008	ENSG00000253773.1
5	lnc-PLEKHF2-2	chr8:96444854-96444894	ENSG00000253773.1
6	lnc-PLEKHF2-2	chr8:96444854-96445008	NONHSAT127835

No data

Variant related genes	Relation type
ENSG00000253945	TF binding region
ENSG00000253773	TF binding region
ENSG00000253945	CpG island
ENSG00000253773	CpG island
ENSG00000253945	chromatin interactions
ENSG00000272452	chromatin interactions

Extended variants
information (count: 3338 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:3338 , 50 per page) page: 1 2 3 4 5 6 7 ... 67

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560522041	chr8:96391403-96391404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs142068918	chr8:96391500-96391501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs574090403	chr8:96391505-96391506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192486645	chr8:96391529-96391530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs74395220	chr8:96391542-96391543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559352812	chr8:96391549-96391550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184438805	chr8:96391557-96391558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534839679	chr8:96391564-96391565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs146328706	chr8:96391577-96391578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs150834146	chr8:96391578-96391579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139380259	chr8:96391615-96391616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs79326113	chr8:96391618-96391619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs548717831	chr8:96391646-96391647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556454735	chr8:96391716-96391717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576442678	chr8:96391803-96391804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs377545897	chr8:96391808-96391809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs78642600	chr8:96391811-96391812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189934825	chr8:96391812-96391813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs527298360	chr8:96391828-96391829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548649330	chr8:96391869-96391870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs561043392	chr8:96391921-96391922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530194598	chr8:96391922-96391923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs181462018	chr8:96391931-96391932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs111720296	chr8:96391961-96391962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370813508	chr8:96392055-96392056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs144313059	chr8:96392061-96392062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562748231	chr8:96392093-96392094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570323255	chr8:96392122-96392123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs184643140	chr8:96392169-96392170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs374220805	chr8:96392175-96392176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs375639977	chr8:96392178-96392179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs141935212	chr8:96393033-96393034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568455474	chr8:96393037-96393038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs537568547	chr8:96393121-96393122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs116783556	chr8:96393166-96393167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569841576	chr8:96393184-96393185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs538841953	chr8:96393213-96393214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs78408165	chr8:96393239-96393240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs572345230	chr8:96393247-96393248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs2055054	chr8:96393248-96393249	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs554579067	chr8:96393261-96393262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs574180896	chr8:96393304-96393305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs375312220	chr8:96393317-96393318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs79640693	chr8:96393359-96393360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs535835831	chr8:96393423-96393424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs62522889	chr8:96393434-96393435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs549056295	chr8:96393477-96393478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs79352875	chr8:96393485-96393486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs144340034	chr8:96393491-96393492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs545996246	chr8:96393506-96393507	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
Epilepsy	20502679	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	17847001	CNVD
Neuropsychiatric disorder	20069037	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Colorectal cancer	21645411	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Breast cancer	17142309	CNVD
Malignant melanoma	17260012	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:354 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96391400-96392200	Enhancers	K562	blood
2	chr8:96393000-96393200	Enhancers	Left Ventricle	heart
3	chr8:96393000-96394400	Enhancers	Fetal Lung	lung
4	chr8:96393000-96394800	Enhancers	Fetal Brain Male	brain
5	chr8:96393000-96394800	Enhancers	Fetal Brain Female	brain
6	chr8:96393000-96395000	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr8:96393200-96394000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr8:96393200-96394000	Enhancers	Colon Smooth Muscle	Colon
9	chr8:96393200-96394800	Enhancers	H1 Cell Line	embryonic stem cell
10	chr8:96393200-96395000	Enhancers	Fetal Stomach	stomach
11	chr8:96393600-96394000	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr8:96393600-96394600	Enhancers	Brain Anterior Caudate	brain
13	chr8:96393600-96394800	Enhancers	Fetal Muscle Leg	muscle
14	chr8:96393800-96394200	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr8:96393800-96394400	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr8:96393800-96394400	Enhancers	Brain Hippocampus Middle	brain
17	chr8:96393800-96394400	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr8:96393800-96395400	Enhancers	Brain Germinal Matrix	brain
19	chr8:96394000-96394200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr8:96394000-96394600	Enhancers	Stomach Smooth Muscle	stomach
21	chr8:96394000-96394800	Enhancers	Brain Cingulate Gyrus	brain
22	chr8:96394000-96396200	Enhancers	Fetal Heart	heart
23	chr8:96394200-96394600	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr8:96394200-96394600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr8:96394200-96394600	Enhancers	Ovary	ovary
26	chr8:96394400-96395000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:96394600-96398600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr8:96395000-96395400	Enhancers	Duodenum Mucosa	Duodenum
29	chr8:96395000-96395400	Enhancers	Left Ventricle	heart
30	chr8:96395000-96396200	Enhancers	Fetal Intestine Large	intestine
31	chr8:96395200-96396400	Enhancers	Fetal Intestine Small	intestine
32	chr8:96396200-96398400	Weak transcription	Fetal Heart	heart
33	chr8:96396600-96398400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr8:96398200-96398800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr8:96398400-96398800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr8:96398400-96398800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr8:96398400-96399200	Enhancers	Fetal Heart	heart
38	chr8:96398600-96399200	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr8:96398800-96399800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr8:96399600-96400000	Active TSS	Aorta	Aorta
41	chr8:96399800-96400000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr8:96400000-96402600	Weak transcription	Aorta	Aorta
43	chr8:96402600-96403000	ZNF genes & repeats	Aorta	Aorta
44	chr8:96403000-96417400	Weak transcription	Aorta	Aorta
45	chr8:96405600-96406600	Enhancers	Fetal Intestine Small	intestine
46	chr8:96405800-96406200	Enhancers	Fetal Brain Female	brain
47	chr8:96405800-96406400	Enhancers	Fetal Intestine Large	intestine
48	chr8:96405800-96406400	Enhancers	Fetal Kidney	kidney
49	chr8:96406000-96406200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr8:96406000-96406600	Enhancers	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links