Variant report

Variant	esv3349847
Chromosome Location	chr8:6259293-6259725
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:6259667-6259717	NT2-D1	testis:	n/a
2	chr8:6259667-6259717	HUVEC	blood vessel:	n/a
3	chr8:6259667-6259717	HMEC	breast:	n/a
4	chr8:6259667-6259717	U87	brain:	n/a
5	chr8:6259667-6259717	GM06990	blood:	n/a
6	chr8:6259667-6259717	ovcar-3	ovarian:	n/a
7	chr8:6259667-6259717	A549	lung:	n/a
8	chr8:6259667-6259717	HEK293	kidney:	embryo
9	chr8:6259667-6259717	K562	blood:	n/a
10	chr8:6259667-6259717	HRPEpiC	eye:	n/a
11	chr8:6259667-6259717	AG09309	skin:	n/a
12	chr8:6259667-6259717	SK-N-MC	brain:	n/a
13	chr8:6259667-6259717	SK-N-SH_RA	brain:	n/a
14	chr8:6259667-6259717	NHBE	bronchial:	n/a
15	chr8:6259667-6259717	Hepatocyte	liver:	n/a
16	chr8:6259667-6259717	ProgFib	skin:	n/a
17	chr8:6259667-6259717	AG04450	lung:	fetal
18	chr8:6259667-6259717	HRCEpiC	kidney:	n/a
19	chr8:6259667-6259717	SKMC	muscle:	n/a
20	chr8:6259667-6259717	NH-A	brain:	n/a
21	chr8:6259667-6259717	HIPEpiC	eye:	n/a
22	chr8:6259667-6259717	Jurkat	blood:	n/a
23	chr8:6259667-6259717	CMK	blood:	n/a
24	chr8:6259667-6259717	HPAEpiC	pulmonary alveolar:	n/a
25	chr8:6259667-6259717	GM19239	blood:	n/a
26	chr8:6259667-6259717	AG04449	skin:	fetal
27	chr8:6259667-6259717	HepG2	liver:	n/a
28	chr8:6259667-6259717	PANC-1	pancreas:	n/a
29	chr8:6259667-6259717	GM12891	blood:	n/a
30	chr8:6259667-6259717	RPTEC	kidney:	n/a
31	chr8:6259667-6259717	Hela-S3	cervix:	n/a
32	chr8:6259667-6259717	AG10803	skin:	n/a
33	chr8:6259667-6259717	BJ	skin:	n/a
34	chr8:6259667-6259717	NHDF-neo	bronchial:	n/a
35	chr8:6259667-6259717	HL-60	blood:	n/a
36	chr8:6259667-6259717	GM12892	blood:	n/a
37	chr8:6259667-6259717	H1-hESC	embryonic stem cell:	embryo
38	chr8:6259667-6259717	PFSK-1	brain:	n/a
39	chr8:6259667-6259717	SAEC	small airway:	n/a
40	chr8:6259667-6259717	MCF-7	breast:	n/a
41	chr8:6259667-6259717	HCT-116	colon:	n/a
42	chr8:6259667-6259717	LNCaP	prostate:	n/a
43	chr8:6259667-6259717	T-47D	breast:	n/a
44	chr8:6259667-6259717	HEEpiC	esophagus:	n/a
45	chr8:6259667-6259717	AoSMC	blood vessel:	n/a
46	chr8:6259667-6259717	MCF10A-Er-Src	breast:	n/a
47	chr8:6259667-6259717	HNPCEpiC	eye:	n/a
48	chr8:6259667-6259717	IMR90	lung:	fetal
49	chr8:6259667-6259717	HAEpiC	amniotic membrane:	n/a
50	chr8:6259667-6259717	HCF	heart:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr8:6257664..6260408-chr8:6262144..6263812,2	MCF-7	breast:
2	chr8:6257269..6261482-chr8:6261737..6265749,8	MCF-7	breast:
3	chr8:6253865..6260422-chr8:6262184..6266042,7	K562	blood:

No data

Variant related genes	Relation type
MCPH1	CpG island
ENSG00000246089	chromatin interactions
ENSG00000147316	chromatin interactions

Extended variants
information (count: 38 )
Associated
traits (count: 136 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568947576	chr8:6259293-6259294	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs537829769	chr8:6259295-6259296	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs79595992	chr8:6259330-6259331	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs11137017	chr8:6259354-6259355	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs139555806	chr8:6259364-6259365	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs71211496	chr8:6259365-6259366	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs13258127	chr8:6259366-6259367	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs10616106	chr8:6259392-6259393	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs2920598	chr8:6259400-6259401	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs11137018	chr8:6259407-6259408	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs577485302	chr8:6259408-6259409	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs559424052	chr8:6259414-6259415	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs556873493	chr8:6259440-6259441	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs575357092	chr8:6259444-6259445	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs544185262	chr8:6259445-6259446	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs569438377	chr8:6259451-6259452	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs574477176	chr8:6259465-6259466	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs539919519	chr8:6259466-6259467	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs148302530	chr8:6259493-6259494	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs532162506	chr8:6259499-6259500	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs377033481	chr8:6259500-6259501	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs562441729	chr8:6259524-6259525	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs141431693	chr8:6259532-6259533	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs369069805	chr8:6259536-6259537	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs184981864	chr8:6259542-6259543	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs11784404	chr8:6259566-6259567	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs188624210	chr8:6259589-6259590	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs181141301	chr8:6259592-6259593	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs540034344	chr8:6259598-6259599	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs186800882	chr8:6259603-6259604	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs191648345	chr8:6259606-6259607	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs535726228	chr8:6259620-6259621	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs111284286	chr8:6259621-6259622	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs574314520	chr8:6259627-6259628	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs11774902	chr8:6259628-6259629	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs553431926	chr8:6259667-6259668	Weak transcription	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs576675239	chr8:6259680-6259681	Weak transcription	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs531022418	chr8:6259705-6259706	Weak transcription	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:136)

Disease	PMID	Source
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
Prostate cancer	16573809	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
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
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	21364760	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Bladder cancer	21909424	CNVD
Autism	20685689	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6255600-6262400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr8:6256400-6263200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:6256600-6263000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr8:6256800-6263000	Weak transcription	HSMM	muscle
5	chr8:6257200-6262800	Weak transcription	K562	blood
6	chr8:6258600-6263200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:6258800-6261400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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