Variant report

Variant	nsv1031743
Chromosome Location	chr8:132192385-132252083
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	chr8:132249911..132252163-chr8:132258560..132261164,2	K562	blood:
2	chr8:132049071..132049842-chr8:132202495..132203099,2	MCF-7	breast:

Extended variants
information (count: 1095 )
Associated
traits (count: 138 )

Variant overlapped rSNPs/rCNVs (count:1095 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570177950	chr8:132192413-132192414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs570139909	chr8:132192420-132192421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537111477	chr8:132192432-132192433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532171122	chr8:132192444-132192445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555824663	chr8:132192472-132192473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188342756	chr8:132192489-132192490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs35633226	chr8:132192493-132192494	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs553264237	chr8:132192506-132192507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577885502	chr8:132192560-132192561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192572660	chr8:132192584-132192585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs112514134	chr8:132192607-132192608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs376326720	chr8:132192616-132192617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs150259392	chr8:132192618-132192619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570209599	chr8:132192619-132192620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs542404888	chr8:132192620-132192621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs145865357	chr8:132192623-132192624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528329494	chr8:132192644-132192645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546784661	chr8:132192694-132192695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184359285	chr8:132192720-132192721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532403672	chr8:132192723-132192724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551762674	chr8:132192737-132192738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs148991903	chr8:132192773-132192774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs79135741	chr8:132192820-132192821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549232390	chr8:132192823-132192824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549243002	chr8:132192829-132192830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551880780	chr8:132192862-132192863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs12675646	chr8:132192873-132192874	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs12334958	chr8:132192934-132192935	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs553102557	chr8:132193018-132193019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs188742976	chr8:132193093-132193094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs539002383	chr8:132193097-132193098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs143755714	chr8:132193134-132193135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs138347956	chr8:132193322-132193323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs142831976	chr8:132193358-132193359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577258274	chr8:132193365-132193366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs200138030	chr8:132193390-132193391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572948069	chr8:132193532-132193533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs540432453	chr8:132193547-132193548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565034960	chr8:132193553-132193554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs538708582	chr8:132193563-132193564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs145003843	chr8:132193569-132193570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs12547455	chr8:132193596-132193597	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs575366859	chr8:132193631-132193632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562782961	chr8:132193639-132193640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530824108	chr8:132193640-132193641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538402934	chr8:132193652-132193653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551409386	chr8:132193670-132193671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138790185	chr8:132193696-132193697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6651171	chr8:132193796-132193797	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs528524181	chr8:132193810-132193811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:138)

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
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Sezary syndrome	18413736	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
Gastrointestinal stromal cancer	20818650	CNVD
Colorectal cancer	21645411	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastric cancer	16891809	CNVD
Colorectal cancer	19455253	CNVD
Pregnancies with abnormal ultrasound findings	21110858	CNVD
Breast cancer	19181860	CNVD
Brain cancer	19584924	CNVD
Medulloblastoma	19584924	CNVD
Follicular lymphoma	17699855	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:132192200-132192800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr8:132192200-132193200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:132192200-132193600	Enhancers	HMEC	breast
4	chr8:132192400-132193200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:132192600-132193000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr8:132193200-132200800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:132197800-132200800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:132198600-132198800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
9	chr8:132199000-132199400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr8:132199800-132201400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr8:132200200-132201400	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr8:132200600-132201400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr8:132200600-132201400	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr8:132200600-132201800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr8:132200600-132201800	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr8:132200600-132202600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr8:132200800-132201200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr8:132200800-132201200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:132200800-132201200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:132200800-132201200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:132200800-132201200	Enhancers	HMEC	breast
22	chr8:132201600-132202200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr8:132210600-132211400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:132211400-132211800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:132211800-132212000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:132213200-132213800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
27	chr8:132227000-132227800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:132227400-132227600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr8:132227400-132230600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr8:132227600-132227800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr8:132227800-132229200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:132229200-132229600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr8:132229400-132229600	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr8:132229400-132231000	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr8:132229600-132232600	Enhancers	HMEC	breast
36	chr8:132229800-132230600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr8:132230000-132232400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr8:132230400-132231600	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr8:132230400-132232400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr8:132230400-132232400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr8:132230600-132231000	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr8:132230600-132231400	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr8:132230600-132231400	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr8:132230600-132231400	Enhancers	NH-A	brain
45	chr8:132230600-132231800	Enhancers	H9 Cell Line	embryonic stem cell
46	chr8:132230600-132231800	Enhancers	HSMM	muscle
47	chr8:132230600-132231800	Enhancers	NHEK	skin
48	chr8:132230800-132231200	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr8:132230800-132231400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr8:132230800-132231400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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