Variant report

Variant	nsv3967
Chromosome Location	chr3:119857708-119903115
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:76)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:76 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr3:119870692..119873578-chr3:119876530..119878351,2	MCF-7	breast:
2	chr3:119887283..119893170-chr3:119894592..119900399,7	MCF-7	breast:
3	chr3:119812524..119815234-chr3:119878951..119881345,2	MCF-7	breast:
4	chr3:119811496..119816423-chr3:119884642..119891818,9	MCF-7	breast:
5	chr3:119874448..119876522-chr3:119878806..119880321,2	MCF-7	breast:
6	chr3:119864581..119866968-chr3:119914610..119916835,2	MCF-7	breast:
7	chr3:119888337..119890858-chr3:119891647..119894832,5	MCF-7	breast:
8	chr3:119880098..119883232-chr3:119884308..119887648,3	K562	blood:
9	chr3:119812784..119818369-chr3:119882594..119887208,9	MCF-7	breast:
10	chr3:119896267..119897823-chr3:119902121..119903746,2	MCF-7	breast:
11	chr3:119879846..119883232-chr3:119884933..119889018,3	K562	blood:
12	chr3:119862753..119866394-chr3:119887362..119889316,3	MCF-7	breast:
13	chr3:119877444..119878944-chr3:119896183..119899107,2	MCF-7	breast:
14	chr3:119871941..119873702-chr3:119897791..119900404,2	MCF-7	breast:
15	chr3:119866110..119866732-chr3:119901277..119902219,2	MCF-7	breast:
16	chr3:119809272..119819238-chr3:119861129..119869186,35	MCF-7	breast:
17	chr3:119812225..119814949-chr3:119856683..119858230,2	K562	blood:
18	chr3:119864838..119867291-chr3:119874320..119877276,3	MCF-7	breast:
19	chr3:119872156..119875063-chr3:119876468..119880752,4	MCF-7	breast:
20	chr3:119812554..119815643-chr3:119870791..119873292,3	MCF-7	breast:
21	chr3:119610691..119611222-chr3:119862737..119863328,2	MCF-7	breast:
22	chr3:119816323..119819155-chr3:119879849..119882520,2	MCF-7	breast:
23	chr3:119864495..119866427-chr3:119878369..119880021,2	K562	blood:
24	chr15:96452853..96454380-chr3:119876563..119879196,2	MCF-7	breast:
25	chr3:119854307..119856524-chr3:119867161..119869039,2	MCF-7	breast:
26	chr3:119879846..119883232-chr3:119884933..119889018,3	K562	blood:
27	chr3:119874448..119876522-chr3:119878806..119880321,2	MCF-7	breast:
28	chr3:119867871..119870349-chr3:119875712..119877295,2	MCF-7	breast:
29	chr3:119847797..119849644-chr3:119865497..119868433,2	MCF-7	breast:
30	chr3:119813985..119815487-chr3:119857382..119859255,2	MCF-7	breast:
31	chr3:119872811..119874863-chr3:119883837..119886069,2	MCF-7	breast:
32	chr3:119610347..119611160-chr3:119865685..119866515,3	MCF-7	breast:
33	chr3:119878912..119881945-chr3:119899697..119902370,3	MCF-7	breast:
34	chr3:119872811..119874863-chr3:119883837..119886069,2	MCF-7	breast:
35	chr3:119814363..119814891-chr3:119901625..119902317,2	Hela-S3	cervix:
36	chr3:119878912..119881945-chr3:119899697..119902370,3	MCF-7	breast:
37	chr3:119811552..119816110-chr3:119876873..119880386,8	MCF-7	breast:
38	chr3:119865708..119866577-chr4:128412232..128412732,2	MCF-7	breast:
39	chr3:119872156..119875063-chr3:119876468..119880752,4	MCF-7	breast:
40	chr3:119811328..119819569-chr3:119859303..119870611,43	MCF-7	breast:
41	chr3:119862753..119866394-chr3:119887362..119889316,3	MCF-7	breast:
42	chr3:119817098..119817801-chr3:119865724..119866308,2	MCF-7	breast:
43	chr3:119870692..119873578-chr3:119876530..119878351,2	MCF-7	breast:
44	chr3:119812502..119815806-chr3:119871102..119874015,4	MCF-7	breast:
45	chr3:119864495..119866427-chr3:119878369..119880021,2	K562	blood:
46	chr3:119888337..119890858-chr3:119891647..119894832,5	MCF-7	breast:
47	chr3:119864838..119867291-chr3:119874320..119877276,3	MCF-7	breast:
48	chr3:119809943..119817218-chr3:119893934..119905581,30	MCF-7	breast:
49	chr3:119638009..119638727-chr3:119865735..119866462,2	MCF-7	breast:
50	chr3:119866110..119866732-chr3:119901277..119902219,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000242622	chromatin interactions
ENSG00000082701	chromatin interactions

Extended variants
information (count: 1753 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1753 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149376821	chr3:119857714-119857715	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs72625409	chr3:119857734-119857735	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs569823216	chr3:119857758-119857759	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs115235171	chr3:119857834-119857835	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs533487088	chr3:119857850-119857851	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs555693356	chr3:119857865-119857866	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs572404873	chr3:119857879-119857880	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs147037675	chr3:119857887-119857888	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs371348092	chr3:119857906-119857907	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs188329189	chr3:119857949-119857950	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs180850980	chr3:119857979-119857980	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs138251786	chr3:119857981-119857982	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs529436151	chr3:119857985-119857986	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs186529547	chr3:119858011-119858012	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs191338547	chr3:119858033-119858034	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs142907067	chr3:119858042-119858043	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs9868340	chr3:119858071-119858072	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs200377333	chr3:119858072-119858073	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs532795639	chr3:119858096-119858097	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs574069660	chr3:119858105-119858106	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs112161682	chr3:119858139-119858140	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs79069829	chr3:119858141-119858142	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs549848536	chr3:119858147-119858148	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs376220723	chr3:119858151-119858152	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs34548229	chr3:119858152-119858153	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs201543864	chr3:119858160-119858161	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs75029319	chr3:119858162-119858163	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs397876541	chr3:119858163-119858164	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs569809150	chr3:119858192-119858193	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs370492594	chr3:119858206-119858207	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs58075517	chr3:119858225-119858226	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs113396516	chr3:119858246-119858247	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs147423055	chr3:119858270-119858271	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs368766612	chr3:119858273-119858274	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs9868903	chr3:119858282-119858283	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs557777072	chr3:119858323-119858324	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs6781123	chr3:119858353-119858354	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs183577672	chr3:119858400-119858401	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs148475445	chr3:119858422-119858423	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs187029483	chr3:119858449-119858450	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs542731667	chr3:119858481-119858482	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs559484296	chr3:119858509-119858510	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs573365216	chr3:119858569-119858570	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs190386338	chr3:119858576-119858577	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs183242529	chr3:119858578-119858579	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs141752463	chr3:119858583-119858584	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs115384542	chr3:119858596-119858597	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs563351758	chr3:119858597-119858598	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs528968463	chr3:119858615-119858616	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs549115680	chr3:119858627-119858628	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Developmental delay	22180640	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
lymphocytic leukemia	21291569	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Glioblastoma multiforme	22286061	CNVD
Neurodevelopmental disorder	22521361	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD

Chromatin state (count:830 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119836800-119860800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:119844200-119863400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr3:119854400-119863200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:119854600-119863000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr3:119854800-119860800	Weak transcription	Hela-S3	cervix
6	chr3:119855000-119862600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr3:119856000-119862600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr3:119856600-119861000	Weak transcription	HMEC	breast
9	chr3:119859800-119861000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr3:119860600-119860800	Enhancers	HepG2	liver
11	chr3:119860600-119861400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr3:119860800-119861400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr3:119860800-119861400	Enhancers	Hela-S3	cervix
14	chr3:119860800-119861400	Enhancers	Osteobl	bone
15	chr3:119860800-119864400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr3:119861000-119861200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
17	chr3:119861000-119861400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr3:119861000-119861400	Enhancers	HMEC	breast
19	chr3:119861000-119861400	Enhancers	HSMMtube	muscle
20	chr3:119861000-119862200	Weak transcription	HepG2	liver
21	chr3:119861200-119861600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr3:119861200-119866000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr3:119861400-119862600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr3:119861400-119862600	Weak transcription	Hela-S3	cervix
25	chr3:119861400-119862600	Weak transcription	HMEC	breast
26	chr3:119861400-119863000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr3:119861400-119863000	Weak transcription	HSMMtube	muscle
28	chr3:119861400-119863200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr3:119861400-119863200	Weak transcription	Osteobl	bone
30	chr3:119861600-119863000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr3:119862000-119867800	Enhancers	Placenta	Placenta
32	chr3:119862200-119866400	Enhancers	HepG2	liver
33	chr3:119862400-119863400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr3:119862400-119865200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr3:119862600-119863200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr3:119862600-119863200	Enhancers	Hela-S3	cervix
37	chr3:119862600-119864200	Enhancers	A549	lung
38	chr3:119862600-119864800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr3:119862600-119864800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr3:119862600-119865000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr3:119862600-119868000	Enhancers	HMEC	breast
42	chr3:119862800-119864200	Enhancers	NHEK	skin
43	chr3:119862800-119864800	Enhancers	Muscle Satellite Cultured Cells	--
44	chr3:119862800-119864800	Enhancers	HSMM	muscle
45	chr3:119863000-119863400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr3:119863000-119863600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr3:119863000-119863600	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr3:119863000-119863800	Enhancers	Fetal Heart	heart
49	chr3:119863000-119864600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr3:119863000-119865000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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