Variant report

Variant	nsv890061
Chromosome Location	chr8:6713695-6731487
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:6712654..6715531-chr8:6716503..6718496,2	K562	blood:
2	chr8:6697845..6698797-chr8:6721627..6722536,2	K562	blood:
3	chr8:6715312..6715864-chr8:6785802..6786662,2	MCF-7	breast:
4	chr8:6723813..6726017-chr8:6752032..6754952,2	MCF-7	breast:
5	chr8:6708356..6710254-chr8:6712721..6714640,2	MCF-7	breast:
6	chr8:6712654..6715531-chr8:6716503..6718496,2	K562	blood:
7	chr8:6714335..6716270-chr8:6770268..6773044,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AGPAT5-1	chr8:6727394-6728126	NONHSAT124792

No data

Variant related genes	Relation type
ENSG00000254625	chromatin interactions

Extended variants
information (count: 1420 )
Associated
traits (count: 138 )

Variant overlapped rSNPs/rCNVs (count:1420 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2980948	chr8:6713695-6713696	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs78818471	chr8:6713698-6713699	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556548964	chr8:6713705-6713706	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs370583539	chr8:6713706-6713707	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs549760222	chr8:6713720-6713721	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs576820203	chr8:6713732-6713733	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs141035237	chr8:6713742-6713743	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs116026517	chr8:6713743-6713744	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572529722	chr8:6713756-6713757	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540357147	chr8:6713762-6713763	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs150236405	chr8:6713771-6713772	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545399569	chr8:6713794-6713795	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs2951858	chr8:6713809-6713810	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs551977875	chr8:6713811-6713812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531544889	chr8:6713817-6713818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548166273	chr8:6713832-6713833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182611531	chr8:6713882-6713883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs565417640	chr8:6713893-6713894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs527506499	chr8:6713900-6713901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138973186	chr8:6713903-6713904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534447240	chr8:6713911-6713912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544653647	chr8:6713923-6713924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs2980947	chr8:6713941-6713942	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs5000672	chr8:6713954-6713955	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs550240853	chr8:6713980-6713981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs367548303	chr8:6713995-6713996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs570064088	chr8:6714016-6714017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs186195429	chr8:6714082-6714083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs2702920	chr8:6714090-6714091	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs555293506	chr8:6714091-6714092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs376142880	chr8:6714092-6714093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs5889186	chr8:6714095-6714096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs572666189	chr8:6714128-6714129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs5000671	chr8:6714142-6714143	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs5000670	chr8:6714148-6714149	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs184208064	chr8:6714170-6714171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545490190	chr8:6714184-6714185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs76110941	chr8:6714189-6714190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs5000669	chr8:6714193-6714194	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs140563660	chr8:6714195-6714196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs377037925	chr8:6714252-6714253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542387032	chr8:6714255-6714256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561854035	chr8:6714267-6714268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs5000668	chr8:6714269-6714270	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs538277473	chr8:6714287-6714288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs541235264	chr8:6714294-6714295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs114653711	chr8:6714315-6714316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546976406	chr8:6714331-6714332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs76013580	chr8:6714335-6714336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs188614138	chr8:6714345-6714346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:138)

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
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	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
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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Cognitive impairment	21505072	CNVD
Breast cancer	17142309	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:255 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6699600-6721600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:6708800-6721200	Weak transcription	Fetal Stomach	stomach
3	chr8:6709000-6721200	Weak transcription	Fetal Muscle Leg	muscle
4	chr8:6709400-6717400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:6709400-6717400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:6709800-6716400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:6710600-6714000	Enhancers	Stomach Mucosa	stomach
8	chr8:6711800-6713800	Genic enhancers	Dnd41	blood
9	chr8:6712200-6721200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:6712200-6722400	Weak transcription	Fetal Thymus	thymus
11	chr8:6712400-6717600	Weak transcription	Esophagus	oesophagus
12	chr8:6712600-6713800	Enhancers	Fetal Intestine Small	intestine
13	chr8:6712600-6713800	Enhancers	Pancreas	Pancrea
14	chr8:6712600-6714000	Enhancers	Fetal Intestine Large	intestine
15	chr8:6712800-6713800	Bivalent Enhancer	A549	lung
16	chr8:6712800-6717800	Enhancers	Hela-S3	cervix
17	chr8:6713000-6721400	Weak transcription	Gastric	stomach
18	chr8:6713200-6713800	Bivalent Enhancer	HepG2	liver
19	chr8:6713400-6713800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr8:6713400-6714000	Enhancers	Fetal Heart	heart
21	chr8:6713600-6713800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:6713600-6713800	Enhancers	Fetal Lung	lung
23	chr8:6713600-6717800	Weak transcription	Placenta	Placenta
24	chr8:6713800-6717200	Weak transcription	Fetal Intestine Small	intestine
25	chr8:6713800-6720800	Weak transcription	Pancreas	Pancrea
26	chr8:6713800-6721400	Weak transcription	Fetal Lung	lung
27	chr8:6713800-6721600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr8:6713800-6728600	Weak transcription	Dnd41	blood
29	chr8:6714000-6714400	Weak transcription	Fetal Intestine Large	intestine
30	chr8:6714000-6716600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:6714000-6721400	Weak transcription	Stomach Mucosa	stomach
32	chr8:6714400-6714600	Enhancers	Fetal Intestine Large	intestine
33	chr8:6714600-6717400	Weak transcription	Fetal Intestine Large	intestine
34	chr8:6714800-6715000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr8:6715000-6715600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr8:6715600-6721400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr8:6716400-6717000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr8:6716600-6717000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr8:6717000-6720000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr8:6717000-6721200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr8:6717200-6718800	Enhancers	Fetal Intestine Small	intestine
42	chr8:6717400-6717800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr8:6717400-6717800	Enhancers	Rectal Mucosa Donor 29	rectum
44	chr8:6717400-6718600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr8:6717400-6718800	Enhancers	Fetal Intestine Large	intestine
46	chr8:6717600-6718200	Enhancers	Fetal Kidney	kidney
47	chr8:6717600-6718400	Enhancers	Esophagus	oesophagus
48	chr8:6717800-6718000	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr8:6717800-6718200	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr8:6717800-6718600	Enhancers	Placenta	Placenta

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