Variant report

Variant	nsv963145
Chromosome Location	chr2:37886589-37890735
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:37877216..37879655-chr2:37884753..37886765,2	MCF-7	breast:
2	chr2:37887603..37894024-chr2:37896602..37900502,7	K562	blood:
3	chr2:37886940..37888699-chr2:37890365..37892218,2	K562	blood:
4	chr2:37886940..37888699-chr2:37890365..37892218,2	K562	blood:
5	chr2:37878873..37880892-chr2:37884421..37886893,2	K562	blood:
6	chr2:37877539..37880523-chr2:37887000..37889009,2	K562	blood:
7	chr2:37887391..37889613-chr2:38000617..38003018,2	K562	blood:
8	chr2:37888261..37891302-chr2:37893460..37895154,3	K562	blood:
9	chr2:37886213..37888801-chr2:37890844..37893237,2	MCF-7	breast:
10	chr2:37888781..37890355-chr2:37896503..37898938,2	MCF-7	breast:
11	chr2:37888739..37890489-chr2:37897152..37899856,2	MCF-7	breast:
12	chr2:37887881..37890513-chr2:37893460..37895028,2	K562	blood:
13	chr2:37884189..37885698-chr2:37890544..37892731,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000163171	chromatin interactions

Extended variants
information (count: 200 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:200 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559455146	chr2:37886601-37886602	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs377146616	chr2:37886627-37886628	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs74458858	chr2:37886638-37886639	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs180994989	chr2:37886640-37886641	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185233088	chr2:37886653-37886654	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs114704307	chr2:37886657-37886658	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536782664	chr2:37886704-37886705	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192504567	chr2:37886756-37886757	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4670748	chr2:37886778-37886779	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs566927424	chr2:37886817-37886818	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550733585	chr2:37886825-37886826	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs114155876	chr2:37886842-37886843	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs578229724	chr2:37886890-37886891	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4670210	chr2:37886901-37886902	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs557570254	chr2:37886907-37886908	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183836618	chr2:37886931-37886932	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143454628	chr2:37886935-37886936	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377055660	chr2:37886945-37886946	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145759151	chr2:37886967-37886968	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540660396	chr2:37886985-37886986	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566306285	chr2:37887000-37887001	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs4670211	chr2:37887018-37887019	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs188703461	chr2:37887035-37887036	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
24	rs544861136	chr2:37887051-37887052	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
25	rs138674321	chr2:37887058-37887059	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
26	rs546814738	chr2:37887060-37887061	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
27	rs548679479	chr2:37887062-37887063	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
28	rs149312061	chr2:37887073-37887074	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
29	rs6759224	chr2:37887090-37887091	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs546606253	chr2:37887120-37887121	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
31	rs375721246	chr2:37887145-37887146	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
32	rs539336774	chr2:37887156-37887157	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
33	rs191403350	chr2:37887198-37887199	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
34	rs569474331	chr2:37887238-37887239	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs148447745	chr2:37887257-37887258	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs182595902	chr2:37887317-37887318	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs111402069	chr2:37887361-37887362	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs540241531	chr2:37887362-37887363	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs558943735	chr2:37887378-37887379	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs577825287	chr2:37887385-37887386	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs112385010	chr2:37887405-37887406	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs142536038	chr2:37887415-37887416	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs34728162	chr2:37887443-37887444	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs61213191	chr2:37887468-37887469	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs542461363	chr2:37887489-37887490	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs186870534	chr2:37887493-37887494	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs528225834	chr2:37887498-37887499	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs569508977	chr2:37887511-37887512	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs11124594	chr2:37887526-37887527	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs532651543	chr2:37887583-37887584	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
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
T-cell prolymphocytic leukemia	19278963	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
Autism	22495311	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	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:276 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37853600-37897400	Weak transcription	Small Intestine	intestine
2	chr2:37872000-37892400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr2:37873800-37889000	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr2:37874600-37893000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:37875800-37891800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:37875800-37893600	Weak transcription	Fetal Intestine Large	intestine
7	chr2:37875800-37896400	Weak transcription	Fetal Intestine Small	intestine
8	chr2:37878400-37894000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:37879600-37888800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:37879600-37893000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:37879600-37893000	Genic enhancers	Osteobl	bone
12	chr2:37879800-37888600	Weak transcription	Fetal Stomach	stomach
13	chr2:37880200-37888400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:37880400-37897000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr2:37881200-37890800	Enhancers	Rectal Smooth Muscle	rectum
16	chr2:37881400-37887600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:37881800-37893200	Genic enhancers	Primary neutrophils fromperipheralblood	blood
18	chr2:37881800-37893800	Genic enhancers	Primary monocytes fromperipheralblood	blood
19	chr2:37881800-37894200	Weak transcription	Fetal Muscle Trunk	muscle
20	chr2:37882000-37887000	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr2:37882000-37891400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr2:37882400-37887600	Enhancers	Right Ventricle	heart
23	chr2:37882400-37895400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr2:37882600-37887400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr2:37882600-37887600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr2:37882600-37888000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr2:37882600-37888000	Genic enhancers	A549	lung
28	chr2:37882600-37896600	Weak transcription	Fetal Lung	lung
29	chr2:37882800-37888200	Genic enhancers	HSMMtube	muscle
30	chr2:37882800-37888800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:37882800-37896200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:37882800-37896400	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr2:37883200-37892400	Weak transcription	Fetal Brain Male	brain
34	chr2:37883200-37895400	Weak transcription	Brain Germinal Matrix	brain
35	chr2:37883400-37892000	Weak transcription	Fetal Brain Female	brain
36	chr2:37883400-37896400	Weak transcription	Colonic Mucosa	Colon
37	chr2:37883600-37887200	Genic enhancers	HMEC	breast
38	chr2:37883800-37887000	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr2:37884000-37886600	Enhancers	H9 Cell Line	embryonic stem cell
40	chr2:37884000-37891000	Enhancers	Colon Smooth Muscle	Colon
41	chr2:37884000-37893000	Weak transcription	Fetal Muscle Leg	muscle
42	chr2:37884400-37887000	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr2:37884400-37888800	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:37884400-37889400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr2:37884600-37887000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:37884600-37887000	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:37884600-37887000	Weak transcription	Psoas Muscle	Psoas
48	chr2:37884600-37887400	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr2:37884600-37888000	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr2:37884600-37888400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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