Variant report

Variant	nsv961401
Chromosome Location	chr2:38924660-38941942
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:38827983..38829732-chr2:38929974..38932004,2	K562	blood:
2	chr2:38833505..38836464-chr2:38931124..38932679,2	K562	blood:
3	chr2:38937073..38939995-chr2:38978393..38980082,2	K562	blood:
4	chr2:38938757..38943721-chr2:38976171..38978586,4	K562	blood:
5	chr2:38918111..38919788-chr2:38928353..38930489,2	K562	blood:
6	chr2:38940767..38942632-chr2:38977086..38979773,2	K562	blood:
7	chr2:38827268..38830254-chr2:38939172..38940756,3	K562	blood:
8	chr2:38935545..38937747-chr2:38938449..38940333,2	K562	blood:
9	chr2:38938428..38940592-chr2:38945131..38949430,3	K562	blood:
10	chr2:38924892..38927572-chr2:38977178..38979733,2	MCF-7	breast:
11	chr2:38828746..38831144-chr2:38930016..38932480,2	MCF-7	breast:
12	chr2:38935545..38937747-chr2:38938449..38940333,2	K562	blood:
13	chr2:38822893..38825624-chr2:38929270..38931305,2	K562	blood:
14	chr2:38926804..38930306-chr2:38930620..38933051,3	K562	blood:
15	chr2:38920104..38923601-chr2:38924114..38926921,3	K562	blood:
16	chr2:38932689..38934985-chr2:38937003..38939223,2	K562	blood:
17	chr2:38926804..38930306-chr2:38930620..38933051,3	K562	blood:
18	chr2:38838600..38841339-chr2:38925326..38927602,2	K562	blood:
19	chr2:38932689..38934985-chr2:38937003..38939223,2	K562	blood:
20	chr2:38823156..38825243-chr2:38925773..38928004,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000235586	chromatin interactions
ENSG00000152147	chromatin interactions
ENSG00000143889	chromatin interactions
ENSG00000115875	chromatin interactions

Extended variants
information (count: 736 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:736 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145467855	chr2:38924688-38924689	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537809492	chr2:38924692-38924693	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556181948	chr2:38924694-38924695	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs115969309	chr2:38924697-38924698	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372213539	chr2:38924724-38924725	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6752602	chr2:38924784-38924785	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs553973733	chr2:38924785-38924786	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572105363	chr2:38924812-38924813	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546100096	chr2:38924832-38924833	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564189670	chr2:38924865-38924866	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575914826	chr2:38924913-38924914	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs544225374	chr2:38924923-38924924	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs562538413	chr2:38924955-38924956	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs530171321	chr2:38924972-38924973	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs73930943	chr2:38924973-38924974	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs190552971	chr2:38924998-38924999	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs527857108	chr2:38925009-38925010	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs374292671	chr2:38925012-38925013	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs182825577	chr2:38925028-38925029	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs557251852	chr2:38925082-38925083	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs573166933	chr2:38925092-38925093	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs367894635	chr2:38925136-38925137	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs538519306	chr2:38925152-38925153	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs11896593	chr2:38925155-38925156	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs568054218	chr2:38925159-38925160	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs137993984	chr2:38925171-38925172	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs553557759	chr2:38925178-38925179	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs558137550	chr2:38925229-38925230	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs560747522	chr2:38925232-38925233	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs572221193	chr2:38925243-38925244	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs149384656	chr2:38925277-38925278	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs144723970	chr2:38925303-38925304	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs148518436	chr2:38925314-38925315	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs543301345	chr2:38925396-38925397	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs562550036	chr2:38925431-38925432	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs574693971	chr2:38925449-38925450	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs141838649	chr2:38925499-38925500	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs560352364	chr2:38925518-38925519	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs187107669	chr2:38925591-38925592	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs147233324	chr2:38925603-38925604	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs12465156	chr2:38925610-38925611	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs576945867	chr2:38925627-38925628	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs561215353	chr2:38925633-38925634	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs541193181	chr2:38925637-38925638	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs568066335	chr2:38925644-38925645	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs535072477	chr2:38925693-38925694	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs559504565	chr2:38925704-38925705	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs13413726	chr2:38925708-38925709	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs565664396	chr2:38925750-38925751	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs539514507	chr2:38925763-38925764	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	22522925	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:470 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38894400-38960600	Weak transcription	Brain Substantia Nigra	brain
2	chr2:38894800-38949400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:38904800-38936000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:38905000-38935800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr2:38905000-38947600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr2:38905200-38925400	Weak transcription	Small Intestine	intestine
7	chr2:38909200-38947800	Weak transcription	Right Ventricle	heart
8	chr2:38909400-38960600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:38909600-38947800	Weak transcription	Brain Anterior Caudate	brain
10	chr2:38909800-38938600	Weak transcription	Fetal Kidney	kidney
11	chr2:38910000-38948000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:38912600-38932000	Weak transcription	Colon Smooth Muscle	Colon
13	chr2:38913800-38938800	Weak transcription	Fetal Brain Male	brain
14	chr2:38914400-38930000	Weak transcription	Left Ventricle	heart
15	chr2:38914600-38935600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr2:38914600-38938600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr2:38914600-38948000	Weak transcription	Spleen	Spleen
18	chr2:38915800-38947200	Weak transcription	Ovary	ovary
19	chr2:38916600-38932600	Weak transcription	Lung	lung
20	chr2:38916800-38938800	Weak transcription	Fetal Lung	lung
21	chr2:38917000-38927800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr2:38917200-38936400	Weak transcription	Stomach Smooth Muscle	stomach
23	chr2:38918000-38949400	Weak transcription	Primary B cells from cord blood	blood
24	chr2:38918600-38927400	Strong transcription	Fetal Intestine Small	intestine
25	chr2:38918600-38929600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:38918600-38947600	Weak transcription	Hela-S3	cervix
27	chr2:38918600-38956800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr2:38918800-38929600	Weak transcription	HSMM	muscle
29	chr2:38918800-38937200	Weak transcription	Fetal Muscle Leg	muscle
30	chr2:38919800-38927200	Weak transcription	Duodenum Mucosa	Duodenum
31	chr2:38920200-38928400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:38920200-38929000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:38920200-38942600	Weak transcription	Aorta	Aorta
34	chr2:38920400-38926800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr2:38920400-38928800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr2:38920400-38947800	Weak transcription	Esophagus	oesophagus
37	chr2:38920600-38934000	Weak transcription	Thymus	Thymus
38	chr2:38921000-38931800	Weak transcription	A549	lung
39	chr2:38921200-38924800	Weak transcription	Placenta	Placenta
40	chr2:38921200-38927200	Strong transcription	HepG2	liver
41	chr2:38921400-38928000	Weak transcription	Stomach Mucosa	stomach
42	chr2:38921400-38931400	Weak transcription	Pancreas	Pancrea
43	chr2:38921400-38947400	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr2:38921600-38929000	Weak transcription	Primary T cells from cord blood	blood
45	chr2:38921600-38935800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr2:38921600-38938800	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr2:38921600-38942800	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr2:38921800-38924800	Weak transcription	Liver	Liver
49	chr2:38922400-38928000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr2:38922600-38928600	Enhancers	Primary T cells fromperipheralblood	blood

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