Variant report

Variant	nsv873776
Chromosome Location	chr2:31384009-31439443
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:31382368..31384953-chr2:31385943..31389516,3	K562	blood:
2	chr17:63334973..63335809-chr2:31437485..31438063,2	MCF-7	breast:
3	chr2:31418550..31420224-chr2:31425779..31428465,2	K562	blood:
4	chr2:31410117..31413014-chr2:31413496..31415542,2	MCF-7	breast:
5	chr2:31408453..31411420-chr2:31417636..31420052,2	MCF-7	breast:
6	chr2:31361200..31361839-chr2:31415622..31416505,2	MCF-7	breast:
7	chr2:31084008..31085526-chr2:31392671..31393659,6	MCF-7	breast:
8	chr2:31382368..31384953-chr2:31385943..31389516,3	K562	blood:
9	chr2:30934379..30935101-chr2:31392582..31393517,4	MCF-7	breast:
10	chr2:31085085..31085843-chr2:31392722..31393572,3	K562	blood:
11	chr2:31374189..31375034-chr2:31392805..31393608,2	MCF-7	breast:
12	chr2:31410117..31413014-chr2:31413496..31415542,2	MCF-7	breast:
13	chr2:31418550..31420224-chr2:31425779..31428465,2	K562	blood:
14	chr2:31437754..31439740-chr2:31441574..31443729,2	MCF-7	breast:
15	chr2:30934393..30935214-chr2:31392750..31393384,3	MCF-7	breast:
16	chr2:30937140..30937644-chr2:31393091..31393610,2	MCF-7	breast:
17	chr2:31408453..31411420-chr2:31417636..31420052,2	MCF-7	breast:
18	chr2:31272032..31272775-chr2:31392833..31393525,2	MCF-7	breast:
19	chr2:30938969..30939544-chr2:31392686..31393613,2	MCF-7	breast:
20	chr2:31407024..31409183-chr2:31430215..31431751,2	MCF-7	breast:
21	chr2:31407024..31409183-chr2:31430215..31431751,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000158089	chromatin interactions

Extended variants
information (count: 2550 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:2550 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12712312	chr2:31384009-31384010	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs575577685	chr2:31384039-31384040	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561851652	chr2:31384064-31384065	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145468228	chr2:31384102-31384103	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs116254836	chr2:31384103-31384104	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7572858	chr2:31384176-31384177	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs190411004	chr2:31384216-31384217	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560586038	chr2:31384226-31384227	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529292785	chr2:31384269-31384270	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548697075	chr2:31384369-31384370	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538318784	chr2:31384376-31384377	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549323439	chr2:31384401-31384402	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138099667	chr2:31384404-31384405	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183011805	chr2:31384420-31384421	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551606828	chr2:31384424-31384425	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114642131	chr2:31384448-31384449	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534364113	chr2:31384470-31384471	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569216307	chr2:31384491-31384492	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187621027	chr2:31384522-31384523	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566535494	chr2:31384597-31384598	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs76797505	chr2:31384601-31384602	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs142665792	chr2:31384635-31384636	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs192040454	chr2:31384689-31384690	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs575655154	chr2:31384696-31384697	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs146290038	chr2:31384711-31384712	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs115428798	chr2:31384714-31384715	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs577764640	chr2:31384752-31384753	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs77007265	chr2:31384829-31384830	Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs114999256	chr2:31384884-31384885	Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs371340404	chr2:31384922-31384923	Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs529372384	chr2:31384957-31384958	Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs17010778	chr2:31384974-31384975	Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs562542261	chr2:31384991-31384992	Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs7587822	chr2:31385020-31385021	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs574298471	chr2:31385056-31385057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs573248560	chr2:31385101-31385102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs2197282	chr2:31385155-31385156	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs571564256	chr2:31385164-31385165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs527905227	chr2:31385183-31385184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs138171207	chr2:31385295-31385296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs566482791	chr2:31385300-31385301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs182638290	chr2:31385307-31385308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs6755056	chr2:31385328-31385329	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs35571701	chr2:31385335-31385336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs556725973	chr2:31385338-31385339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs115174529	chr2:31385356-31385357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537791382	chr2:31385363-31385364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558105139	chr2:31385434-31385435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs116068686	chr2:31385483-31385484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533780683	chr2:31385485-31385486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
Medulloblastoma	16968546	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	18927303	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:197 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31383800-31385200	Enhancers	Fetal Brain Male	brain
2	chr2:31384000-31385000	Flanking Active TSS	Brain Germinal Matrix	brain
3	chr2:31384600-31385000	Enhancers	Primary B cells from peripheral blood	blood
4	chr2:31384800-31385000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:31385000-31387200	Enhancers	Brain Germinal Matrix	brain
6	chr2:31385000-31387800	Weak transcription	Primary B cells from peripheral blood	blood
7	chr2:31385800-31386600	Bivalent Enhancer	Fetal Muscle Leg	muscle
8	chr2:31386000-31386400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:31386000-31386600	Enhancers	Fetal Brain Female	brain
10	chr2:31387800-31388200	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr2:31387800-31388400	Enhancers	Primary B cells from peripheral blood	blood
12	chr2:31387800-31388400	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr2:31387800-31388400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:31388000-31388400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:31388400-31389400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr2:31388400-31393000	Weak transcription	Primary B cells from peripheral blood	blood
17	chr2:31388400-31407000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:31389400-31389800	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr2:31389600-31390200	Enhancers	HMEC	breast
20	chr2:31389600-31390400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:31389800-31390200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:31389800-31390200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:31390400-31390800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:31390600-31392000	Enhancers	Fetal Thymus	thymus
25	chr2:31390800-31391600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:31391200-31418600	Weak transcription	Gastric	stomach
27	chr2:31393000-31393400	Enhancers	Fetal Heart	heart
28	chr2:31393000-31395200	Enhancers	Primary B cells from peripheral blood	blood
29	chr2:31394000-31395000	Enhancers	GM12878-XiMat	blood
30	chr2:31394400-31394800	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr2:31394600-31394800	Enhancers	Primary B cells from cord blood	blood
32	chr2:31394800-31395600	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr2:31394800-31419600	Weak transcription	Primary B cells from cord blood	blood
34	chr2:31395200-31416600	Weak transcription	Primary B cells from peripheral blood	blood
35	chr2:31395600-31395800	Enhancers	Esophagus	oesophagus
36	chr2:31395800-31415000	Weak transcription	Esophagus	oesophagus
37	chr2:31397000-31397600	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr2:31400200-31401200	Enhancers	Fetal Heart	heart
39	chr2:31400600-31400800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:31400600-31401600	Enhancers	Adipose Nuclei	Adipose
41	chr2:31400800-31401600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:31403800-31404000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr2:31404000-31415800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr2:31407000-31407600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr2:31407600-31412800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:31410400-31414600	Weak transcription	Primary hematopoietic stem cells	blood
47	chr2:31410800-31420400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr2:31411000-31421800	Weak transcription	Primary T cells from cord blood	blood
49	chr2:31411000-31427400	Weak transcription	Fetal Brain Female	brain
50	chr2:31411200-31436800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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