Variant report

Variant	nsv609902
Chromosome Location	chr8:5088786-5533605
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:5176323-5176370	K562	blood:	n/a	n/a
2	ATF1	chr8:5099830-5099957	K562	blood:	n/a	n/a
3	BACH1	chr8:5234824-5235146	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr8:5222944-5223039	K562	blood:	n/a	n/a
5	BACH1	chr8:5234834-5235034	K562	blood:	n/a	n/a
6	BCL11A	chr8:5532714-5533009	H1-hESC	embryonic stem cell:	n/a	n/a
7	BHLHE40	chr8:5447859-5447918	GM12878	blood:	n/a	n/a
8	BHLHE40	chr8:5472520-5472526	GM12878	blood:	n/a	n/a
9	BRCA1	chr8:5125197-5125225	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr8:5273354-5273512	A549	lung:	n/a	chr8:5273472-5273483
11	CEBPB	chr8:5238478-5238810	HepG2	liver:	n/a	chr8:5238616-5238627
12	CEBPB	chr8:5429309-5429532	HepG2	liver:	n/a	chr8:5429431-5429442
13	CEBPB	chr8:5480182-5480464	HepG2	liver:	n/a	chr8:5480309-5480320
14	CEBPB	chr8:5376840-5377287	A549	lung:	n/a	chr8:5377021-5377032
15	CEBPB	chr8:5283347-5283641	HepG2	liver:	n/a	n/a
16	CEBPB	chr8:5222153-5222443	H1-hESC	embryonic stem cell:	n/a	chr8:5222299-5222310
17	CEBPB	chr8:5401667-5401899	A549	lung:	n/a	chr8:5401782-5401795 chr8:5401751-5401764 chr8:5401751-5401762 chr8:5401752-5401763 chr8:5401751-5401764
18	CEBPB	chr8:5401632-5401855	HepG2	liver:	n/a	chr8:5401782-5401795 chr8:5401751-5401764 chr8:5401751-5401762 chr8:5401752-5401763 chr8:5401751-5401764
19	CEBPB	chr8:5162218-5162397	A549	lung:	n/a	n/a
20	CEBPB	chr8:5248596-5248731	H1-hESC	embryonic stem cell:	n/a	chr8:5248627-5248636
21	CEBPB	chr8:5238543-5238790	IMR90	lung:	n/a	chr8:5238616-5238627
22	CEBPB	chr8:5240780-5240877	H1-hESC	embryonic stem cell:	n/a	n/a
23	CEBPB	chr8:5226252-5226373	HepG2	liver:	n/a	n/a
24	CEBPB	chr8:5273323-5273523	HepG2	liver:	n/a	chr8:5273472-5273483
25	CEBPB	chr8:5126149-5126444	K562	blood:	n/a	chr8:5126288-5126297 chr8:5126286-5126299 chr8:5126288-5126297 chr8:5126288-5126297 chr8:5126286-5126299 chr8:5126288-5126297 chr8:5126286-5126297
26	CEBPB	chr8:5329623-5329678	HepG2	liver:	n/a	chr8:5329646-5329657
27	CEBPB	chr8:5117712-5117740	H1-hESC	embryonic stem cell:	n/a	n/a
28	CEBPB	chr8:5376850-5377178	IMR90	lung:	n/a	chr8:5377021-5377032
29	CEBPB	chr8:5222165-5222479	A549	lung:	n/a	chr8:5222299-5222310
30	CEBPB	chr8:5255367-5255640	HepG2	liver:	n/a	n/a
31	CEBPB	chr8:5376819-5377206	HepG2	liver:	n/a	chr8:5377021-5377032
32	CEBPB	chr8:5242990-5243238	A549	lung:	n/a	chr8:5243122-5243135 chr8:5243122-5243135 chr8:5243122-5243133 chr8:5243116-5243127
33	CEBPB	chr8:5513789-5514104	HepG2	liver:	n/a	chr8:5513934-5513945
34	CEBPB	chr8:5125887-5126461	HepG2	liver:	n/a	chr8:5126288-5126297 chr8:5126286-5126299 chr8:5126288-5126297 chr8:5126288-5126297 chr8:5126286-5126299 chr8:5126288-5126297 chr8:5126286-5126297
35	CEBPB	chr8:5162274-5162430	H1-hESC	embryonic stem cell:	n/a	n/a
36	CEBPB	chr8:5376851-5377128	K562	blood:	n/a	chr8:5377021-5377032
37	CEBPB	chr8:5398200-5398400	HepG2	liver:	n/a	chr8:5398329-5398340
38	CEBPB	chr8:5222140-5222537	IMR90	lung:	n/a	chr8:5222299-5222310
39	CEBPB	chr8:5532924-5533107	H1-hESC	embryonic stem cell:	n/a	n/a
40	CEBPB	chr8:5424515-5424781	HepG2	liver:	n/a	chr8:5424665-5424676
41	CEBPB	chr8:5532168-5532358	HepG2	liver:	n/a	chr8:5532275-5532288 chr8:5532276-5532287 chr8:5532275-5532286
42	CEBPB	chr8:5283428-5283466	K562	blood:	n/a	n/a
43	CEBPB	chr8:5226277-5226470	A549	lung:	n/a	n/a
44	CEBPB	chr8:5126101-5126481	IMR90	lung:	n/a	chr8:5126288-5126297 chr8:5126286-5126299 chr8:5126288-5126297 chr8:5126288-5126297 chr8:5126286-5126299 chr8:5126288-5126297 chr8:5126286-5126297
45	CEBPB	chr8:5424573-5424773	H1-hESC	embryonic stem cell:	n/a	chr8:5424665-5424676
46	CEBPB	chr8:5240669-5240966	IMR90	lung:	n/a	n/a
47	CEBPB	chr8:5376855-5377165	Hela-S3	cervix:	n/a	chr8:5377021-5377032
48	CEBPB	chr8:5377818-5377889	HepG2	liver:	n/a	n/a
49	CEBPB	chr8:5222156-5222493	HepG2	liver:	n/a	chr8:5222299-5222310
50	CEBPB	chr8:5472168-5472184	H1-hESC	embryonic stem cell:	n/a	chr8:5472171-5472184

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:5526092-5526142	NHDF-neo	bronchial:	n/a
2	chr8:5526092-5526142	LNCaP	prostate:	n/a
3	chr8:5526092-5526142	SKMC	muscle:	n/a
4	chr8:5526092-5526142	MCF10A-Er-Src	breast:	n/a
5	chr8:5526092-5526142	BE2_C	brain:	n/a
6	chr8:5526092-5526142	H1-hESC	embryonic stem cell:	embryo
7	chr8:5526092-5526142	Jurkat	blood:	n/a
8	chr8:5526092-5526142	AG09319	gingival:	n/a
9	chr8:5526092-5526142	AG09309	skin:	n/a
10	chr8:5526092-5526142	HNPCEpiC	eye:	n/a
11	chr8:5526092-5526142	NT2-D1	testis:	n/a
12	chr8:5526092-5526142	U87	brain:	n/a
13	chr8:5526092-5526142	HRE	kidney:	n/a
14	chr8:5526092-5526142	GM06990	blood:	n/a
15	chr8:5526092-5526142	GM12878	blood:	n/a
16	chr8:5526092-5526142	Hepatocyte	liver:	n/a
17	chr8:5526092-5526142	HEK293	kidney:	embryo
18	chr8:5526092-5526142	HIPEpiC	eye:	n/a
19	chr8:5526092-5526142	CMK	blood:	n/a
20	chr8:5526092-5526142	HPAEpiC	pulmonary alveolar:	n/a
21	chr8:5526092-5526142	A549	lung:	n/a
22	chr8:5526092-5526142	MCF-7	breast:	n/a
23	chr8:5526092-5526142	SK-N-SH	brain:	n/a
24	chr8:5526092-5526142	PANC-1	pancreas:	n/a
25	chr8:5526092-5526142	HL-60	blood:	n/a
26	chr8:5526092-5526142	PrEC	prostate:	n/a
27	chr8:5526092-5526142	HAEpiC	amniotic membrane:	n/a
28	chr8:5526092-5526142	K562	blood:	n/a
29	chr8:5526092-5526142	IMR90	lung:	fetal
30	chr8:5526092-5526142	SAEC	small airway:	n/a
31	chr8:5526092-5526142	ovcar-3	ovarian:	n/a
32	chr8:5526092-5526142	SK-N-SH_RA	brain:	n/a
33	chr8:5526092-5526142	HEEpiC	esophagus:	n/a
34	chr8:5526092-5526142	AG10803	skin:	n/a
35	chr8:5526092-5526142	NHBE	bronchial:	n/a
36	chr8:5526092-5526142	HCPEpiC	choroid plexus:	n/a
37	chr8:5526092-5526142	T-47D	breast:	n/a
38	chr8:5526092-5526142	HCM	heart:	n/a
39	chr8:5526092-5526142	HRPEpiC	eye:	n/a
40	chr8:5526092-5526142	AG04450	lung:	fetal
41	chr8:5526092-5526142	BJ	skin:	n/a
42	chr8:5526092-5526142	PFSK-1	brain:	n/a
43	chr8:5526092-5526142	HepG2	liver:	n/a
44	chr8:5526092-5526142	GM12892	blood:	n/a
45	chr8:5526092-5526142	GM12891	blood:	n/a
46	chr8:5526092-5526142	RPTEC	kidney:	n/a
47	chr8:5526092-5526142	HCF	heart:	n/a
48	chr8:5526092-5526142	Caco-2	colon:	n/a
49	chr8:5526092-5526142	GM19239	blood:	n/a
50	chr8:5526092-5526142	AoSMC	blood vessel:	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:5196215..5198446-chr8:5199730..5201571,2	K562	blood:
2	chr8:5524220..5526546-chr8:5527520..5529311,2	K562	blood:
3	chr8:5196215..5198446-chr8:5199730..5201571,2	K562	blood:
4	chr8:5197871..5199494-chr8:5211295..5212821,2	K562	blood:
5	chr8:5197871..5199494-chr8:5211295..5212821,2	K562	blood:
6	chr1:14651092..14651694-chr8:5507747..5508432,2	MCF-7	breast:
7	chr8:5374260..5376916-chr8:5431835..5433649,2	K562	blood:
8	chr8:5374260..5376916-chr8:5431835..5433649,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CSMD1-6	chr8:5517279-5517508	XLOC_006981
2	lnc-CSMD1-6	chr8:5522226-5522285	XLOC_006981
3	lnc-CSMD1-17	chr8:5312740-5313187	NONHSAT124756
4	lnc-CSMD1-6	chr8:5517201-5517508	ENSG00000254007
5	lnc-MCPH1-5	chr8:5334070-5334488	NONHSAT124757
6	lnc-CSMD1-5	chr8:5363590-5366648	ENSG00000253510
7	lnc-CSMD1-6	chr8:5522226-5522711	ENSG00000254007
8	lnc-CSMD1-6	chr8:5527471-5527599	ENSG00000254007

Variant related genes	Relation type
ENSG00000271248	TF binding region
RPL23AP54	TF binding region
ENSG00000254007	TF binding region
ENSG00000253510	TF binding region
ENSG00000271248	CpG island
RPL23AP54	CpG island
ENSG00000254007	CpG island
ENSG00000253510	CpG island
ENSG00000254007	chromatin interactions
STRBP	miRNA target sites
STRADB	miRNA target sites

Extended variants
information (count: 9678 )
Associated
traits (count: 128 )

Variant overlapped rSNPs/rCNVs (count:9678 , 50 per page) page: 1 2 3 4 5 6 7 ... 194

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4875149	chr8:5088786-5088787	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs149906630	chr8:5088787-5088788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs76417084	chr8:5088808-5088809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577896308	chr8:5088853-5088854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374670979	chr8:5088917-5088918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs369979017	chr8:5088923-5088924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs76550024	chr8:5088935-5088936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189007856	chr8:5088936-5088937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs377620765	chr8:5088938-5088939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531647731	chr8:5088955-5088956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181760518	chr8:5088959-5088960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs118152713	chr8:5088962-5088963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs58768701	chr8:5088963-5088964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs369627951	chr8:5088967-5088968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574619289	chr8:5088968-5088969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs547670799	chr8:5088981-5088982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs148986209	chr8:5088985-5088986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533347040	chr8:5088992-5088993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556400574	chr8:5088999-5089000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187589126	chr8:5096400-5096401	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs565189830	chr8:5096411-5096412	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs578261516	chr8:5096427-5096428	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs532247408	chr8:5096435-5096436	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs143190315	chr8:5096436-5096437	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs62489615	chr8:5096446-5096447	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs530943537	chr8:5096450-5096451	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs549456360	chr8:5096467-5096468	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs141552785	chr8:5096471-5096472	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs528497335	chr8:5096480-5096481	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs546628530	chr8:5096483-5096484	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs571990009	chr8:5096487-5096488	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs11786616	chr8:5096506-5096507	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs529272871	chr8:5096508-5096509	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs116748407	chr8:5096519-5096520	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs569451732	chr8:5096525-5096526	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs75087218	chr8:5096560-5096561	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs554638455	chr8:5096591-5096592	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs192401656	chr8:5096603-5096604	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs146190745	chr8:5096636-5096637	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs73190959	chr8:5096645-5096646	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs558232900	chr8:5096647-5096648	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs576761704	chr8:5096652-5096653	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs184957397	chr8:5096674-5096675	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs371818057	chr8:5096679-5096680	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs142496190	chr8:5096680-5096681	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs541622071	chr8:5096691-5096692	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs549427522	chr8:5096712-5096713	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs150534617	chr8:5096714-5096715	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs139365506	chr8:5096720-5096721	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs546985824	chr8:5096722-5096723	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:128)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Cancer	20164920	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21829676	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Prostate cancer	17217626	CNVD
Developmental delay	19128483	CNVD
Neuroticism	17667963	CNVD
Leukoplakia	24403051	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Chronic myeloid leukemia	21384125	CNVD
Tetralogy of Fallot	22912587	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Type 2 diabetes	21526130	CNVD
early-passage human iPS cells	21368824	CNVD
Medulloblastoma	16783165	CNVD
Renal cell carcinoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:266 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5087000-5089000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr8:5096400-5097000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:5102800-5103200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:5116200-5116600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:5116400-5116600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:5116600-5117400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:5117400-5117600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:5137400-5139600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr8:5137800-5140200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr8:5138200-5138400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr8:5138400-5138800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr8:5138400-5138800	Enhancers	H9 Cell Line	embryonic stem cell
13	chr8:5138400-5138800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr8:5138400-5138800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr8:5138400-5139600	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr8:5138800-5139000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr8:5138800-5139200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr8:5138800-5140600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr8:5138800-5141800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr8:5139200-5139800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr8:5139400-5139600	Enhancers	H1 Cell Line	embryonic stem cell
22	chr8:5140600-5140800	Enhancers	H9 Cell Line	embryonic stem cell
23	chr8:5140800-5141200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr8:5141800-5142000	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr8:5148800-5150000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr8:5149600-5150200	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr8:5149800-5150400	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr8:5150000-5150200	Enhancers	H9 Cell Line	embryonic stem cell
29	chr8:5150200-5157400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr8:5154800-5155200	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr8:5157400-5157600	Enhancers	H9 Cell Line	embryonic stem cell
32	chr8:5157800-5159400	Enhancers	Fetal Muscle Leg	muscle
33	chr8:5158600-5158800	Enhancers	H9 Cell Line	embryonic stem cell
34	chr8:5158600-5159000	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr8:5164000-5164200	Enhancers	Pancreas	Pancrea
36	chr8:5169200-5170000	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr8:5169400-5169800	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr8:5178400-5179000	Enhancers	NHEK	skin
39	chr8:5178600-5179200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr8:5178800-5179200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:5178800-5179400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
42	chr8:5179000-5179400	Active TSS	A549	lung
43	chr8:5189800-5190000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr8:5193600-5194400	Enhancers	Fetal Brain Male	brain
45	chr8:5206400-5206800	Enhancers	Fetal Kidney	kidney
46	chr8:5206600-5207200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr8:5206600-5207800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:5207200-5207600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr8:5207200-5208000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr8:5207400-5207800	Enhancers	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links