Variant report

Variant	nsv612249
Chromosome Location	chr8:131056738-131062502
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:131027127..131029868-chr8:131056253..131058573,2	MCF-7	breast:
2	chr8:131044244..131046702-chr8:131056220..131058655,2	MCF-7	breast:
3	chr8:131056726..131059122-chr8:131059475..131061608,2	K562	blood:
4	chr8:131052756..131054836-chr8:131056637..131059542,2	K562	blood:
5	chr8:131056726..131059122-chr8:131059475..131061608,2	K562	blood:
6	chr8:131057701..131060248-chr8:131066752..131069472,2	K562	blood:

Variant related genes	Relation type
ENSG00000153310	chromatin interactions

Extended variants
information (count: 315 )
Associated
traits (count: 153 )

Variant overlapped rSNPs/rCNVs (count:315 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3871	chr8:131056738-131056739	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs142118070	chr8:131056764-131056765	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs555618391	chr8:131056767-131056768	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs116947676	chr8:131056768-131056769	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs540487448	chr8:131056771-131056772	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs569437217	chr8:131056778-131056779	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs80216194	chr8:131056828-131056829	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs148143959	chr8:131056903-131056904	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs558835412	chr8:131056911-131056912	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs141868985	chr8:131056925-131056926	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs536842131	chr8:131056951-131056952	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs544345115	chr8:131056956-131056957	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs556221996	chr8:131057009-131057010	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs202098042	chr8:131057010-131057011	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs74305970	chr8:131057023-131057024	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
16	rs541818233	chr8:131057043-131057044	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs560154814	chr8:131057046-131057047	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs528334181	chr8:131057059-131057060	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs540526324	chr8:131057074-131057075	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs190901917	chr8:131057101-131057102	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs376145678	chr8:131057111-131057112	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs150653973	chr8:131057115-131057116	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs79756512	chr8:131057130-131057131	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs180913431	chr8:131057147-131057148	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs550537286	chr8:131057167-131057168	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs185129213	chr8:131057188-131057189	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs577661885	chr8:131057189-131057190	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs35010359	chr8:131057198-131057199	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs113887631	chr8:131057209-131057210	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs542367079	chr8:131057214-131057215	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs534197612	chr8:131057215-131057216	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs559215600	chr8:131057218-131057219	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs36062282	chr8:131057226-131057227	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs375768082	chr8:131057227-131057228	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs145131848	chr8:131057228-131057229	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs113320254	chr8:131057265-131057266	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs6470795	chr8:131057270-131057271	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs80344957	chr8:131057302-131057303	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs538412940	chr8:131057319-131057320	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs544629101	chr8:131057325-131057326	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs370294475	chr8:131057385-131057386	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs190770173	chr8:131057407-131057408	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs111644018	chr8:131057409-131057410	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs183437743	chr8:131057498-131057499	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs74369685	chr8:131057515-131057516	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs562929194	chr8:131057530-131057531	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs553704417	chr8:131057531-131057532	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs187928516	chr8:131057611-131057612	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs540124760	chr8:131057620-131057621	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs144656375	chr8:131057635-131057636	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:153)

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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:544 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131041400-131068600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:131043000-131058200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr8:131051800-131063800	Weak transcription	Aorta	Aorta
4	chr8:131053200-131057800	Enhancers	Primary B cells from peripheral blood	blood
5	chr8:131054000-131057600	Enhancers	Primary B cells from cord blood	blood
6	chr8:131054600-131057800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:131054600-131058200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr8:131055000-131057800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:131055000-131057800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:131055000-131057800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr8:131055000-131057800	Weak transcription	Fetal Heart	heart
12	chr8:131055000-131057800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr8:131055000-131057800	Weak transcription	Lung	lung
14	chr8:131055000-131057800	Weak transcription	Right Ventricle	heart
15	chr8:131055000-131057800	Weak transcription	Thymus	Thymus
16	chr8:131055000-131058000	Weak transcription	Left Ventricle	heart
17	chr8:131055000-131058800	Weak transcription	Right Atrium	heart
18	chr8:131055000-131059800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr8:131055000-131060000	Weak transcription	NHLF	lung
20	chr8:131055000-131060400	Weak transcription	HUVEC	blood vessel
21	chr8:131055000-131063800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:131055200-131057600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr8:131055200-131057600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr8:131055200-131057600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr8:131055200-131057600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr8:131055200-131057600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr8:131055200-131057600	Weak transcription	Brain Hippocampus Middle	brain
28	chr8:131055200-131057600	Weak transcription	Fetal Thymus	thymus
29	chr8:131055200-131057800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr8:131055200-131057800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr8:131055200-131057800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr8:131055200-131057800	Weak transcription	Adipose Nuclei	Adipose
33	chr8:131055200-131057800	Weak transcription	Brain Anterior Caudate	brain
34	chr8:131055200-131057800	Weak transcription	Esophagus	oesophagus
35	chr8:131055200-131057800	Weak transcription	Fetal Intestine Large	intestine
36	chr8:131055200-131057800	Weak transcription	Fetal Intestine Small	intestine
37	chr8:131055200-131057800	Weak transcription	Fetal Muscle Leg	muscle
38	chr8:131055200-131057800	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr8:131055200-131057800	Weak transcription	Spleen	Spleen
40	chr8:131055200-131057800	Weak transcription	NHDF-Ad	bronchial
41	chr8:131055200-131057800	Weak transcription	Osteobl	bone
42	chr8:131055200-131058000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr8:131055200-131058000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr8:131055200-131058000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr8:131055200-131058200	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr8:131055200-131058200	Weak transcription	HSMM	muscle
47	chr8:131055200-131058400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr8:131055200-131058600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr8:131055200-131059000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr8:131055200-131059600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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