Variant report

Variant	nsv612286
Chromosome Location	chr8:131370231-131370934
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:131370791..131374454-chr8:131375102..131378755,4	MCF-7	breast:
2	chr8:131340477..131343144-chr8:131369207..131371407,2	K562	blood:
3	chr8:131367705..131370719-chr8:131454770..131456809,3	MCF-7	breast:
4	chr8:131369806..131373851-chr8:131400186..131403048,3	MCF-7	breast:
5	chr8:131364073..131367147-chr8:131368498..131370803,3	MCF-7	breast:
6	chr8:131359135..131361082-chr8:131369216..131371676,2	MCF-7	breast:
7	chr8:131273772..131275744-chr8:131368224..131371036,2	MCF-7	breast:
8	chr8:131370636..131372390-chr8:131374796..131377434,2	K562	blood:
9	chr8:131352326..131356339-chr8:131369333..131373155,5	K562	blood:
10	chr8:131340477..131342836-chr8:131369281..131371407,2	K562	blood:
11	chr8:131370668..131373008-chr8:131383412..131385396,2	K562	blood:
12	chr16:7701119..7701719-chr8:131369650..131370650,2	MCF-7	breast:
13	chr8:131276737..131278356-chr8:131369594..131371515,3	MCF-7	breast:
14	chr8:131308649..131310819-chr8:131367686..131370906,3	MCF-7	breast:
15	chr8:131328726..131330955-chr8:131369323..131371352,2	MCF-7	breast:
16	chr8:131342449..131344196-chr8:131369562..131371312,2	MCF-7	breast:
17	chr20:49345521..49347747-chr8:131368237..131370408,2	MCF-7	breast:
18	chr8:131368827..131370582-chr8:131514661..131517339,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000153317	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 156 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376140494	chr8:131370246-131370247	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs563930939	chr8:131370253-131370254	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs142318272	chr8:131370285-131370286	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs375945770	chr8:131370296-131370297	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs530965226	chr8:131370302-131370303	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs200047056	chr8:131370395-131370396	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs369158448	chr8:131370420-131370421	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs561269520	chr8:131370434-131370435	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs13276180	chr8:131370441-131370442	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs528584168	chr8:131370490-131370491	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs547050885	chr8:131370501-131370502	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs571647272	chr8:131370526-131370527	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs539764370	chr8:131370530-131370531	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs551353535	chr8:131370665-131370666	Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs569842761	chr8:131370675-131370676	Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs4319138	chr8:131370711-131370712	Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:156)

Disease	PMID	Source
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
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	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	17603634	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
Acute myeloid leukemia	20729466	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
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	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
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Malignant melanoma	17260012	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute myeloid leukemia	18379011	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	22048815	CNVD
Colorectal cancer	16912164	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	21148746	CNVD
Lung cancer	21911935	CNVD
Breast cancer	20459607	CNVD
Medulloblastoma	19270706	CNVD
Acute myeloid leukemia	19651601	CNVD
Colorectal cancer	21645411	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	22860045	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Prostate cancer	17217626	CNVD
Cancer	17160897	CNVD
Breast cancer	16497871	CNVD
Colorectal cancer	16882699	CNVD
Cystic fibrosis	19273617	CNVD
Chronic stroke	19622162	CNVD
Chordoma	18071362	CNVD
Breast cancer	17850661	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	16272173	CNVD
Uveal melanoma	20484589	CNVD
Ovarian cancer	20844748	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21611746	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:150 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131367200-131371400	Active TSS	HSMMtube	muscle
2	chr8:131367800-131371600	Active TSS	HSMM	muscle
3	chr8:131368000-131370400	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr8:131368200-131370600	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr8:131368400-131371600	Active TSS	Ovary	ovary
6	chr8:131368600-131370400	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr8:131368600-131370400	Flanking Active TSS	HMEC	breast
8	chr8:131368600-131371600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr8:131368800-131370400	Flanking Active TSS	Placenta	Placenta
10	chr8:131368800-131370600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
11	chr8:131368800-131371200	Active TSS	NHDF-Ad	bronchial
12	chr8:131369000-131371400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:131369000-131371600	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr8:131369200-131370400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr8:131369200-131370400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:131369200-131370400	Flanking Active TSS	Colonic Mucosa	Colon
17	chr8:131369200-131370400	Flanking Active TSS	Esophagus	oesophagus
18	chr8:131369200-131371400	Active TSS	Left Ventricle	heart
19	chr8:131369200-131371400	Active TSS	Placenta Amnion	Placenta Amnion
20	chr8:131369200-131371600	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr8:131369400-131370400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr8:131369400-131370400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
23	chr8:131369400-131370400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr8:131369400-131371200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:131369400-131371200	Active TSS	Muscle Satellite Cultured Cells	--
26	chr8:131369400-131371200	Active TSS	Fetal Brain Female	brain
27	chr8:131369400-131371400	Active TSS	Aorta	Aorta
28	chr8:131369400-131371400	Active TSS	Brain Angular Gyrus	brain
29	chr8:131369400-131371400	Active TSS	Brain Germinal Matrix	brain
30	chr8:131369400-131371400	Active TSS	Brain Substantia Nigra	brain
31	chr8:131369400-131371600	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr8:131369400-131371800	Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr8:131369400-131371800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr8:131369600-131370400	Transcr. at gene 5' and 3'	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr8:131369600-131370400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr8:131369600-131370400	Active TSS	Fetal Heart	heart
37	chr8:131369600-131371200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr8:131369600-131371200	Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr8:131369600-131371200	Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr8:131369600-131371200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr8:131369600-131371200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr8:131369600-131371400	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr8:131369600-131371400	Active TSS	Fetal Intestine Large	intestine
44	chr8:131369600-131371600	Active TSS	Colon Smooth Muscle	Colon
45	chr8:131369600-131371600	Active TSS	Right Atrium	heart
46	chr8:131369600-131371600	Active TSS	Right Ventricle	heart
47	chr8:131369600-131371600	Active TSS	Osteobl	bone
48	chr8:131369600-131371800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr8:131369600-131371800	Active TSS	Fetal Kidney	kidney
50	chr8:131369800-131370400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell

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