Variant report

Variant	nsv1009191
Chromosome Location	chr2:63473443-63578508
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:63473407..63475999-chr2:63481728..63484302,2	MCF-7	breast:
2	chr2:63534805..63537487-chr2:63541173..63543120,2	K562	blood:
3	chr2:63558377..63559158-chr4:30081687..30082401,2	MCF-7	breast:
4	chr2:63473407..63475999-chr2:63481728..63484302,2	MCF-7	breast:
5	chr2:63519650..63522564-chr2:63524374..63526614,2	MCF-7	breast:
6	chr2:63534805..63537487-chr2:63541173..63543120,2	K562	blood:
7	chr2:63519666..63522078-chr2:63524666..63526969,2	MCF-7	breast:
8	chr2:63519666..63522078-chr2:63524666..63526969,2	MCF-7	breast:
9	chr2:63574920..63576944-chr2:63604308..63606529,2	K562	blood:
10	chr2:63487527..63489612-chr2:63491905..63493457,2	K562	blood:
11	chr2:63540899..63542710-chr2:63545803..63547726,2	MCF-7	breast:
12	chr2:63524592..63526238-chr2:63528273..63529804,2	K562	blood:
13	chr2:63519650..63522564-chr2:63524374..63526614,2	MCF-7	breast:
14	chr2:63540899..63542710-chr2:63545803..63547726,2	MCF-7	breast:
15	chr2:63524592..63526238-chr2:63528273..63529804,2	K562	blood:
16	chr2:63468117..63470900-chr2:63472693..63474612,2	K562	blood:
17	chr2:63487527..63489612-chr2:63491905..63493457,2	K562	blood:

No data

Extended variants
information (count: 3578 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:3578 , 50 per page) page: 1 2 3 4 5 6 7 ... 72

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12713474	chr2:63473443-63473444	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs546829346	chr2:63473466-63473467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571503785	chr2:63473505-63473506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563275941	chr2:63473544-63473545	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539322398	chr2:63473602-63473603	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs557329990	chr2:63473657-63473658	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs149916174	chr2:63473662-63473663	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs536221530	chr2:63473684-63473685	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs116485815	chr2:63473688-63473689	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs573407368	chr2:63473711-63473712	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs185385764	chr2:63473818-63473819	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs189702132	chr2:63473845-63473846	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs536648701	chr2:63473848-63473849	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs182277787	chr2:63473870-63473871	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs186555261	chr2:63473892-63473893	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs562607740	chr2:63473922-63473923	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs529715038	chr2:63473932-63473933	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs576493120	chr2:63473979-63473980	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs62177794	chr2:63474040-63474041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144890390	chr2:63474052-63474053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559706126	chr2:63474072-63474073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10199770	chr2:63474238-63474239	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs144908573	chr2:63474259-63474260	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571516184	chr2:63474284-63474285	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs377152965	chr2:63474290-63474291	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551278379	chr2:63474345-63474346	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545139403	chr2:63474361-63474362	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192212730	chr2:63474410-63474411	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536935516	chr2:63474439-63474440	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369559827	chr2:63474445-63474446	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs78658129	chr2:63474510-63474511	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566869297	chr2:63474511-63474512	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12621101	chr2:63474622-63474623	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs559053697	chr2:63474649-63474650	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576985586	chr2:63474686-63474687	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544050975	chr2:63474692-63474693	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556304452	chr2:63474707-63474708	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574679665	chr2:63474731-63474732	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147960813	chr2:63474734-63474735	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11125954	chr2:63474793-63474794	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs569995697	chr2:63474810-63474811	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs527250689	chr2:63474821-63474822	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs77431217	chr2:63474823-63474824	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs545506642	chr2:63474836-63474837	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs11125955	chr2:63474853-63474854	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs531413367	chr2:63474892-63474893	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs13407650	chr2:63474895-63474896	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs569422663	chr2:63474918-63474919	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs530281254	chr2:63474974-63474975	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs530466335	chr2:63474976-63474977	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:343 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63463600-63476200	Weak transcription	Primary B cells from cord blood	blood
2	chr2:63463600-63487800	Weak transcription	Left Ventricle	heart
3	chr2:63464800-63485400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr2:63467800-63476400	Weak transcription	Adipose Nuclei	Adipose
5	chr2:63468000-63474200	Weak transcription	Primary T cells from cord blood	blood
6	chr2:63470400-63474000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr2:63473400-63474000	Enhancers	H9 Cell Line	embryonic stem cell
8	chr2:63473600-63474000	ZNF genes & repeats	Aorta	Aorta
9	chr2:63474000-63474600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr2:63474200-63475000	Strong transcription	Primary T cells from cord blood	blood
11	chr2:63474800-63475200	Enhancers	HUVEC	blood vessel
12	chr2:63475000-63477000	Weak transcription	Primary T cells from cord blood	blood
13	chr2:63476200-63476600	ZNF genes & repeats	Primary B cells from cord blood	blood
14	chr2:63476200-63477000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:63476400-63477200	Strong transcription	Adipose Nuclei	Adipose
16	chr2:63476600-63496000	Weak transcription	Primary B cells from cord blood	blood
17	chr2:63477000-63477400	ZNF genes & repeats	Primary T cells from cord blood	blood
18	chr2:63477200-63484400	Weak transcription	Adipose Nuclei	Adipose
19	chr2:63477400-63485000	Weak transcription	Primary T cells from cord blood	blood
20	chr2:63477600-63485000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr2:63484000-63487200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:63484400-63485200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:63484400-63485200	Enhancers	Adipose Nuclei	Adipose
24	chr2:63484400-63485200	Enhancers	Dnd41	blood
25	chr2:63484400-63485600	Enhancers	GM12878-XiMat	blood
26	chr2:63484800-63485200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr2:63485000-63485200	Enhancers	Primary hematopoietic stem cells	blood
28	chr2:63485000-63485600	Enhancers	Primary T cells from cord blood	blood
29	chr2:63485200-63486400	Weak transcription	Adipose Nuclei	Adipose
30	chr2:63486400-63486600	Enhancers	Adipose Nuclei	Adipose
31	chr2:63487800-63488000	Enhancers	Left Ventricle	heart
32	chr2:63488000-63488400	Enhancers	H1 Cell Line	embryonic stem cell
33	chr2:63488000-63488800	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr2:63488000-63488800	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr2:63488400-63488800	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr2:63496000-63496200	Weak transcription	Ovary	ovary
37	chr2:63497600-63497800	Weak transcription	Ovary	ovary
38	chr2:63497800-63498400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:63498200-63498400	Enhancers	Pancreas	Pancrea
40	chr2:63498400-63498600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:63498400-63498600	Weak transcription	Pancreas	Pancrea
42	chr2:63498400-63498600	Enhancers	Right Ventricle	heart
43	chr2:63498600-63499200	Weak transcription	Right Ventricle	heart
44	chr2:63498600-63499400	ZNF genes & repeats	Pancreas	Pancrea
45	chr2:63498800-63499400	ZNF genes & repeats	Spleen	Spleen
46	chr2:63499000-63499400	ZNF genes & repeats	Aorta	Aorta
47	chr2:63499400-63503000	Weak transcription	Aorta	Aorta
48	chr2:63499400-63515200	Weak transcription	Pancreas	Pancrea
49	chr2:63503000-63503400	ZNF genes & repeats	Aorta	Aorta
50	chr2:63504200-63504600	Enhancers	HUES6 Cell Line	embryonic stem cell

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