Variant report

Variant	nsv968523
Chromosome Location	chr8:108201683-108211510
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:108203846..108205838-chr8:108206200..108208879,2	MCF-7	breast:
2	chr8:108203846..108205838-chr8:108206200..108208879,2	MCF-7	breast:

Extended variants
information (count: 285 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:285 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532225350	chr8:108201714-108201715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552032464	chr8:108201745-108201746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181798009	chr8:108201746-108201747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186832488	chr8:108201794-108201795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531448767	chr8:108201804-108201805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549556879	chr8:108201822-108201823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191779607	chr8:108201839-108201840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs78413989	chr8:108201856-108201857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181388860	chr8:108201890-108201891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565845632	chr8:108201918-108201919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186538159	chr8:108201966-108201967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs376559822	chr8:108202017-108202018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs534549895	chr8:108202058-108202059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148137281	chr8:108202067-108202068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571148048	chr8:108202069-108202070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs190083016	chr8:108202072-108202073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548419902	chr8:108202087-108202088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182306659	chr8:108202088-108202089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537344558	chr8:108202096-108202097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574946138	chr8:108202108-108202109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541975401	chr8:108202141-108202142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs370898559	chr8:108202153-108202154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554225629	chr8:108202168-108202169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs572380091	chr8:108202207-108202208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs79284627	chr8:108202225-108202226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs186675189	chr8:108202323-108202324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531511621	chr8:108202324-108202325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191090288	chr8:108202335-108202336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561748222	chr8:108202383-108202384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529068044	chr8:108202410-108202411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs377717051	chr8:108202463-108202464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs547203278	chr8:108202550-108202551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs559395789	chr8:108202563-108202564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs201705961	chr8:108202566-108202567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532994929	chr8:108202579-108202580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576396818	chr8:108202585-108202586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs183987056	chr8:108202659-108202660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569622217	chr8:108202681-108202682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs150637209	chr8:108202730-108202731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs188481340	chr8:108202756-108202757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs34209720	chr8:108202776-108202777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs558821457	chr8:108202782-108202783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1954742	chr8:108202790-108202791	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs554023535	chr8:108202907-108202908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1954741	chr8:108202969-108202970	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs193122505	chr8:108202982-108202983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557734838	chr8:108202991-108202992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1954740	chr8:108203017-108203018	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs543346039	chr8:108203032-108203033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115125647	chr8:108203053-108203054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Melanoma	18172304	CNVD
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
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	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	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	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
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
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
small cell lung cancer	20016488	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
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Multiple myeloma	16461302	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Breast cancer	21364760	CNVD
Gastric cancer	22539939	CNVD
Non-small cell lung cancer	19010865	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:108196000-108207000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:108198800-108202400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr8:108200200-108204800	Weak transcription	Adipose Nuclei	Adipose
4	chr8:108200600-108201800	Enhancers	Osteobl	bone
5	chr8:108200800-108201800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:108201000-108201800	Enhancers	NHDF-Ad	bronchial
7	chr8:108201000-108202800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr8:108201200-108201800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:108201600-108201800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:108201800-108204800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:108202400-108207600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:108202800-108203200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr8:108203200-108203400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr8:108203400-108204400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr8:108204400-108206200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr8:108204800-108205000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:108204800-108205200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:108204800-108206200	Enhancers	Adipose Nuclei	Adipose
19	chr8:108205000-108205400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:108205400-108206000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:108206000-108208200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:108206200-108208200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr8:108206200-108208200	Weak transcription	Adipose Nuclei	Adipose
24	chr8:108207000-108208400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr8:108207000-108208600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr8:108207200-108208400	Enhancers	NH-A	brain
27	chr8:108207200-108208800	Enhancers	Muscle Satellite Cultured Cells	--
28	chr8:108207400-108208800	Enhancers	Fetal Lung	lung
29	chr8:108207400-108208800	Enhancers	HUVEC	blood vessel
30	chr8:108207400-108208800	Enhancers	Osteobl	bone
31	chr8:108207600-108208000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr8:108207600-108208000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr8:108207600-108208000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr8:108207600-108208200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:108207600-108208400	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr8:108207600-108208400	Enhancers	Primary hematopoietic stem cells	blood
37	chr8:108207600-108208600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:108207600-108208600	Enhancers	Fetal Kidney	kidney
39	chr8:108207600-108208600	Enhancers	NHLF	lung
40	chr8:108207600-108208800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr8:108207600-108208800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr8:108207600-108208800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr8:108207600-108208800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr8:108207600-108209400	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr8:108207800-108208000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr8:108207800-108208800	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr8:108207800-108209600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr8:108208000-108208600	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr8:108208000-108208600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr8:108208000-108208800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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