Variant report

Variant	esv3439566
Chromosome Location	chr2:190364328-190376661
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:190353445..190355042-chr2:190365324..190367722,2	K562	blood:
2	chr2:190362837..190364939-chr2:190445442..190447265,2	K562	blood:
3	chr2:190341305..190342866-chr2:190363155..190365858,2	K562	blood:
4	chr2:190365552..190368406-chr2:190403748..190406239,2	MCF-7	breast:
5	chr2:190366192..190368786-chr2:190444645..190446966,2	K562	blood:
6	chr2:190370323..190372281-chr2:190487630..190489200,2	K562	blood:
7	chr2:190364179..190366721-chr2:190470674..190473597,2	MCF-7	breast:
8	chr2:190371597..190374886-chr2:190378213..190380643,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000138449	chromatin interactions

Extended variants
information (count: 432 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:432 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71399297	chr2:190364329-190364330	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs10180669	chr2:190364368-190364369	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs371817215	chr2:190364371-190364372	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs554472788	chr2:190364389-190364390	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs572316009	chr2:190364519-190364520	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs4277558	chr2:190364550-190364551	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs78089960	chr2:190364681-190364682	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs576126722	chr2:190364688-190364689	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs2352239	chr2:190364720-190364721	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs564721335	chr2:190364722-190364723	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs576996119	chr2:190364772-190364773	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs540939805	chr2:190364823-190364824	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs573557362	chr2:190364844-190364845	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs529615951	chr2:190364845-190364846	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs180823428	chr2:190364852-190364853	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs563317203	chr2:190364875-190364876	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs530608102	chr2:190364909-190364910	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs559374989	chr2:190364949-190364950	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs184842676	chr2:190364980-190364981	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs375237814	chr2:190365009-190365010	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs539240183	chr2:190365038-190365039	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs547733347	chr2:190365085-190365086	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs566365524	chr2:190365136-190365137	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs368475302	chr2:190365182-190365183	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs554533428	chr2:190365263-190365264	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs576061095	chr2:190365276-190365277	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs79096193	chr2:190365348-190365349	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs7585230	chr2:190365351-190365352	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs13403213	chr2:190365360-190365361	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs151069816	chr2:190365396-190365397	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs189168176	chr2:190365401-190365402	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs574670218	chr2:190365403-190365404	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs542181282	chr2:190365465-190365466	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs181562811	chr2:190365486-190365487	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs530545706	chr2:190365488-190365489	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs552270745	chr2:190365538-190365539	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs76211026	chr2:190365552-190365553	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs186619472	chr2:190365554-190365555	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs540986965	chr2:190365569-190365570	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs547968729	chr2:190365580-190365581	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs566184256	chr2:190365610-190365611	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs191471959	chr2:190365624-190365625	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs181402270	chr2:190365670-190365671	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs78642837	chr2:190365674-190365675	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs373041565	chr2:190365686-190365687	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs186419511	chr2:190365707-190365708	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs537062813	chr2:190365718-190365719	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs16831545	chr2:190365825-190365826	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs190015083	chr2:190365833-190365834	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs150203062	chr2:190365883-190365884	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21720365	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Colorectal cancer	16912164	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Melanoma	20877625	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190335000-190366200	Weak transcription	Ovary	ovary
2	chr2:190349200-190365000	Weak transcription	Fetal Intestine Large	intestine
3	chr2:190353000-190364600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr2:190363000-190366400	Enhancers	Stomach Mucosa	stomach
5	chr2:190363400-190365200	Enhancers	Small Intestine	intestine
6	chr2:190363600-190364600	Weak transcription	Duodenum Mucosa	Duodenum
7	chr2:190363600-190365000	Weak transcription	Fetal Intestine Small	intestine
8	chr2:190363800-190367000	Weak transcription	Fetal Lung	lung
9	chr2:190364000-190367000	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr2:190364400-190366400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr2:190364600-190364800	Enhancers	Psoas Muscle	Psoas
12	chr2:190364600-190364800	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr2:190364600-190365600	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr2:190364600-190366400	Enhancers	Duodenum Mucosa	Duodenum
15	chr2:190364800-190366400	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr2:190364800-190366400	Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr2:190365000-190366400	Enhancers	Fetal Intestine Large	intestine
18	chr2:190365000-190366400	Enhancers	Fetal Intestine Small	intestine
19	chr2:190365200-190366000	Enhancers	Primary B cells from cord blood	blood
20	chr2:190365200-190366000	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr2:190365200-190369800	Weak transcription	Small Intestine	intestine
22	chr2:190365400-190366400	Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr2:190365400-190371200	Weak transcription	Psoas Muscle	Psoas
24	chr2:190365600-190365800	Enhancers	HepG2	liver
25	chr2:190365600-190366000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr2:190365600-190366400	Enhancers	Fetal Kidney	kidney
27	chr2:190365800-190369800	Weak transcription	HepG2	liver
28	chr2:190366000-190366400	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr2:190366000-190366800	Enhancers	HSMMtube	muscle
30	chr2:190366000-190377600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr2:190366200-190366400	Enhancers	Primary hematopoietic stem cells	blood
32	chr2:190366200-190366400	Enhancers	Ovary	ovary
33	chr2:190366400-190367000	Weak transcription	Ovary	ovary
34	chr2:190366400-190367000	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr2:190366400-190367800	Weak transcription	Fetal Intestine Large	intestine
36	chr2:190366400-190369800	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr2:190366400-190369800	Weak transcription	Primary hematopoietic stem cells	blood
38	chr2:190366400-190369800	Weak transcription	Duodenum Mucosa	Duodenum
39	chr2:190366400-190369800	Weak transcription	Fetal Intestine Small	intestine
40	chr2:190366400-190369800	Weak transcription	Stomach Mucosa	stomach
41	chr2:190366400-190369800	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr2:190366800-190371200	Weak transcription	HSMMtube	muscle
43	chr2:190367000-190367800	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr2:190367000-190368200	Enhancers	Ovary	ovary
45	chr2:190367000-190368400	Enhancers	Fetal Lung	lung
46	chr2:190367000-190378400	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr2:190367400-190367800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr2:190367800-190368000	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr2:190367800-190368800	Enhancers	Fetal Intestine Large	intestine
50	chr2:190367800-190369000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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