Variant report

Variant	nsv8284
Chromosome Location	chr8:8154363-8156688
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:8151537..8155554-chr8:8160869..8164322,5	MCF-7	breast:
2	chr8:8145815..8148362-chr8:8152420..8155525,4	MCF-7	breast:
3	chr8:8152575..8156744-chr8:8165539..8169727,4	MCF-7	breast:
4	chr8:8152309..8154624-chr8:8177640..8180074,2	MCF-7	breast:
5	chr8:8154932..8157234-chrX:48930489..48933092,2	MCF-7	breast:
6	chr8:8153909..8155842-chr8:8254348..8256276,2	MCF-7	breast:
7	chr19:47291530..47292116-chr8:8154143..8154834,2	HCT-116	colon:
8	chr8:8155614..8158517-chr8:8163567..8165783,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196998	chromatin interactions
ENSG00000243279	chromatin interactions
ENSG00000105281	chromatin interactions

Extended variants
information (count: 147 )
Associated
traits (count: 140 )

Variant overlapped rSNPs/rCNVs (count:147 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565759990	chr8:8154364-8154365	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs528218577	chr8:8154372-8154373	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs2176456	chr8:8154376-8154377	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs549671254	chr8:8154387-8154388	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs188738239	chr8:8154402-8154403	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs191523115	chr8:8154417-8154418	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs537311032	chr8:8154426-8154427	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs550883915	chr8:8154439-8154440	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs145497258	chr8:8154493-8154494	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs536837144	chr8:8154495-8154496	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs111653515	chr8:8154497-8154498	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs542081518	chr8:8154512-8154513	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs553330367	chr8:8154524-8154525	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs148824428	chr8:8154528-8154529	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs112361412	chr8:8154550-8154551	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs569609101	chr8:8154566-8154567	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs538489459	chr8:8154588-8154589	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs558958571	chr8:8154653-8154654	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs575732258	chr8:8154670-8154671	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs567460873	chr8:8154684-8154685	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs10094791	chr8:8154691-8154692	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs558458955	chr8:8154698-8154699	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs372036158	chr8:8154704-8154705	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs10111613	chr8:8154719-8154720	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs188770876	chr8:8154730-8154731	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs528146849	chr8:8154767-8154768	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs10094898	chr8:8154781-8154782	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs143424512	chr8:8154782-8154783	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs368668606	chr8:8154799-8154800	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs569352419	chr8:8154805-8154806	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs191594220	chr8:8154810-8154811	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs550194805	chr8:8154811-8154812	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs10094915	chr8:8154829-8154830	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs574495195	chr8:8154831-8154832	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs2980429	chr8:8154857-8154858	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs547131580	chr8:8154868-8154869	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs11988170	chr8:8154897-8154898	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs566969552	chr8:8154899-8154900	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs150928764	chr8:8154900-8154901	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs557726393	chr8:8154939-8154940	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs77191784	chr8:8154958-8154959	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs559075187	chr8:8154982-8154983	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs575844279	chr8:8154983-8154984	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs183830527	chr8:8154989-8154990	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs186614930	chr8:8155012-8155013	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs141905641	chr8:8155034-8155035	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs542564779	chr8:8155086-8155087	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs559463235	chr8:8155090-8155091	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs191856182	chr8:8155094-8155095	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs78337659	chr8:8155109-8155110	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:140)

Disease	PMID	Source
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
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
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Developmental disorder	20461109	CNVD
Schizophrenia	21346763	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	20967226	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164919	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8152200-8156200	Enhancers	Placenta Amnion	Placenta Amnion
2	chr8:8152600-8154600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr8:8152600-8155200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:8152600-8155400	Enhancers	Fetal Intestine Large	intestine
5	chr8:8152800-8154400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr8:8152800-8154800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:8152800-8155200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:8152800-8155200	Enhancers	Placenta	Placenta
9	chr8:8152800-8155400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:8152800-8155400	Flanking Active TSS	Hela-S3	cervix
11	chr8:8153000-8154600	Flanking Active TSS	HMEC	breast
12	chr8:8153200-8154400	Flanking Active TSS	NH-A	brain
13	chr8:8153200-8154400	Flanking Active TSS	NHEK	skin
14	chr8:8153400-8154400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr8:8153400-8154400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr8:8153400-8154400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:8153400-8154400	Flanking Active TSS	HUVEC	blood vessel
18	chr8:8153400-8154400	Enhancers	NHDF-Ad	bronchial
19	chr8:8153400-8154400	Flanking Active TSS	Osteobl	bone
20	chr8:8153400-8155000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:8153400-8155000	Enhancers	NHLF	lung
22	chr8:8153600-8154400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr8:8153600-8154400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
24	chr8:8153600-8154400	Enhancers	HSMMtube	muscle
25	chr8:8153600-8154600	Flanking Active TSS	Stomach Mucosa	stomach
26	chr8:8153600-8154800	Bivalent Enhancer	Fetal Muscle Leg	muscle
27	chr8:8153800-8154400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr8:8153800-8154400	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr8:8153800-8154600	Weak transcription	Lung	lung
30	chr8:8153800-8154800	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr8:8153800-8155200	Enhancers	Fetal Lung	lung
32	chr8:8153800-8155400	Enhancers	Fetal Intestine Small	intestine
33	chr8:8154000-8154800	Enhancers	HSMM	muscle
34	chr8:8154000-8155400	Flanking Active TSS	A549	lung
35	chr8:8154200-8155000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr8:8154200-8155000	Enhancers	Fetal Kidney	kidney
37	chr8:8154200-8155000	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr8:8154200-8155000	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr8:8154200-8155200	Enhancers	Fetal Stomach	stomach
40	chr8:8154200-8155200	Flanking Active TSS	HepG2	liver
41	chr8:8154200-8155400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:8154200-8156000	Enhancers	Fetal Muscle Trunk	muscle
43	chr8:8154400-8154600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr8:8154400-8154600	Enhancers	Muscle Satellite Cultured Cells	--
45	chr8:8154400-8154800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr8:8154400-8154800	Enhancers	Osteobl	bone
47	chr8:8154400-8155200	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr8:8154400-8155400	Enhancers	HUVEC	blood vessel
49	chr8:8154400-8155400	Enhancers	NHEK	skin
50	chr8:8154400-8155600	Enhancers	NH-A	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links