Variant report

Variant	nsv961406
Chromosome Location	chr2:47388456-47390181
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47383453..47385887-chr2:47388520..47390045,2	MCF-7	breast:
2	chr2:47381317..47383359-chr2:47387772..47390474,2	MCF-7	breast:
3	chr2:47337732..47340513-chr2:47388234..47390439,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000239605	chromatin interactions

Extended variants
information (count: 101 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547743230	chr2:47388456-47388457	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs530252567	chr2:47388471-47388472	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs188599486	chr2:47388479-47388480	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs563834288	chr2:47388577-47388578	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs181169422	chr2:47388592-47388593	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs549847269	chr2:47388651-47388652	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs571239564	chr2:47388676-47388677	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs532281556	chr2:47388681-47388682	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs547194410	chr2:47388682-47388683	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs72877072	chr2:47388712-47388713	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs145787488	chr2:47388716-47388717	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs554708053	chr2:47388717-47388718	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs148957461	chr2:47388721-47388722	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs111887282	chr2:47388724-47388725	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs113557417	chr2:47388746-47388747	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs530280284	chr2:47388757-47388758	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs201028012	chr2:47388764-47388765	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs573997516	chr2:47388765-47388766	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs113446790	chr2:47388766-47388767	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs3729956	chr2:47388787-47388788	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs574833849	chr2:47388803-47388804	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs199921656	chr2:47388829-47388830	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs367611069	chr2:47388840-47388841	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs542095802	chr2:47388841-47388842	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs2016682	chr2:47388844-47388845	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs576033867	chr2:47388845-47388846	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs374968950	chr2:47388855-47388856	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs372947059	chr2:47388859-47388860	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs201444040	chr2:47388863-47388864	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs398124649	chr2:47388876-47388877	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs200594401	chr2:47388879-47388880	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs398124650	chr2:47388883-47388884	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs398124648	chr2:47388887-47388888	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs17850324	chr2:47388913-47388914	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs546507069	chr2:47388935-47388936	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs34169936	chr2:47388969-47388970	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs11551437	chr2:47388972-47388973	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs564738016	chr2:47388980-47388981	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs11551460	chr2:47388982-47388983	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs3729955	chr2:47388983-47388984	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs398124647	chr2:47388990-47388991	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs561747169	chr2:47389014-47389015	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs112882205	chr2:47389016-47389017	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs370698055	chr2:47389032-47389033	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs143704343	chr2:47389049-47389050	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs547325050	chr2:47389100-47389101	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs559193755	chr2:47389123-47389124	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs570786521	chr2:47389135-47389136	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs111287024	chr2:47389148-47389149	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs548132869	chr2:47389153-47389154	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
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
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Myelofibrosis	22110671	CNVD
Hypotonia	17579669	CNVD
Hypotonia-Cystinuria syndrome	16385448	CNVD
Glioblastoma multiforme	17002787	CNVD
Cystinuria	17625506	CNVD
Breast cancer	16272173	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	22355333	CNVD

Chromatin state (count:168 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47366200-47397000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:47366800-47399400	Strong transcription	Fetal Thymus	thymus
3	chr2:47367000-47401200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:47367200-47402000	Weak transcription	Esophagus	oesophagus
5	chr2:47369800-47391200	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr2:47370000-47389600	Strong transcription	Muscle Satellite Cultured Cells	--
7	chr2:47371600-47389800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:47371800-47392200	Strong transcription	Osteobl	bone
9	chr2:47372600-47396800	Weak transcription	Small Intestine	intestine
10	chr2:47375600-47397400	Weak transcription	Fetal Brain Male	brain
11	chr2:47376400-47389800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:47378400-47392000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr2:47378600-47389800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:47380200-47391400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr2:47381400-47389600	Strong transcription	Fetal Brain Female	brain
16	chr2:47381600-47390400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:47382000-47391000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:47382200-47390000	Strong transcription	NHLF	lung
19	chr2:47382600-47391400	Strong transcription	NH-A	brain
20	chr2:47382600-47398200	Weak transcription	Aorta	Aorta
21	chr2:47382800-47390600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:47382800-47390600	Weak transcription	Spleen	Spleen
23	chr2:47383800-47388600	Weak transcription	Lung	lung
24	chr2:47383800-47390200	Strong transcription	Primary B cells from cord blood	blood
25	chr2:47384000-47389800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:47384400-47390000	Genic enhancers	A549	lung
27	chr2:47384400-47391800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:47384400-47397200	Weak transcription	Right Atrium	heart
29	chr2:47384600-47389800	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr2:47384600-47390800	Strong transcription	HUVEC	blood vessel
31	chr2:47384600-47391000	Strong transcription	Fetal Muscle Trunk	muscle
32	chr2:47384600-47393200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr2:47384800-47390400	Strong transcription	GM12878-XiMat	blood
34	chr2:47384800-47397600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr2:47385000-47390400	Strong transcription	NHDF-Ad	bronchial
36	chr2:47385000-47390600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:47385000-47391000	Strong transcription	Fetal Lung	lung
38	chr2:47385000-47392400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:47385000-47398000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr2:47385200-47390200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr2:47385200-47392000	Strong transcription	Adipose Nuclei	Adipose
42	chr2:47385200-47392400	Strong transcription	Primary T cells from cord blood	blood
43	chr2:47385200-47392400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr2:47385200-47393200	Strong transcription	Fetal Muscle Leg	muscle
45	chr2:47385400-47389800	Strong transcription	Colon Smooth Muscle	Colon
46	chr2:47385400-47390000	Strong transcription	Duodenum Mucosa	Duodenum
47	chr2:47385400-47390200	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr2:47385400-47390200	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr2:47385400-47390800	Strong transcription	Primary B cells from peripheral blood	blood
50	chr2:47385400-47391800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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