Variant report

Variant	esv3458868
Chromosome Location	chr2:190346710-190347646
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:190344066..190347384-chr2:190497869..190500288,3	MCF-7	breast:
2	chr2:190304945..190307026-chr2:190347089..190349073,2	MCF-7	breast:
3	chr2:190343744..190345333-chr2:190346489..190348591,2	K562	blood:
4	chr2:190347309..190351333-chr2:190419513..190421740,3	MCF-7	breast:
5	chr2:190343819..190345333-chr2:190346157..190348591,2	K562	blood:
6	chr2:190341307..190343721-chr2:190345345..190347093,2	MCF-7	breast:
7	chr2:190344868..190348072-chr2:190351001..190352963,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233996	chromatin interactions
ENSG00000115368	chromatin interactions

Extended variants
information (count: 28 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568536858	chr2:190346748-190346749	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs180835634	chr2:190346760-190346761	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs151032348	chr2:190346764-190346765	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs551511446	chr2:190346775-190346776	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs184852077	chr2:190346802-190346803	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs140028059	chr2:190346860-190346861	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs552974184	chr2:190346867-190346868	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs189171648	chr2:190346894-190346895	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs535785190	chr2:190346901-190346902	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs557366543	chr2:190346911-190346912	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs181732589	chr2:190346944-190346945	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs546091379	chr2:190346982-190346983	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs558298416	chr2:190347015-190347016	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs372062883	chr2:190347028-190347029	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs540309388	chr2:190347052-190347053	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs144920911	chr2:190347073-190347074	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs528889515	chr2:190347107-190347108	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs77158900	chr2:190347125-190347126	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs78131579	chr2:190347226-190347227	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs533218279	chr2:190347282-190347283	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs551306689	chr2:190347283-190347284	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs36061544	chr2:190347459-190347460	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs186860620	chr2:190347461-190347462	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs528594305	chr2:190347473-190347474	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs546680331	chr2:190347494-190347495	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs568162862	chr2:190347606-190347607	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs111865971	chr2:190347616-190347617	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs11678414	chr2:190347630-190347631	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:51)

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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190315400-190347800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:190333000-190347200	Weak transcription	Small Intestine	intestine
3	chr2:190335000-190348600	Weak transcription	Pancreas	Pancrea
4	chr2:190335000-190348600	Weak transcription	Right Ventricle	heart
5	chr2:190335000-190348800	Weak transcription	Gastric	stomach
6	chr2:190335000-190351800	Weak transcription	Psoas Muscle	Psoas
7	chr2:190335000-190366200	Weak transcription	Ovary	ovary
8	chr2:190335800-190352600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr2:190336600-190349600	Weak transcription	HSMMtube	muscle
10	chr2:190338400-190348600	Weak transcription	Fetal Intestine Small	intestine
11	chr2:190338600-190348600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:190338600-190349600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:190339400-190349400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr2:190339600-190348200	Weak transcription	Lung	lung
15	chr2:190339600-190348400	Weak transcription	Spleen	Spleen
16	chr2:190339600-190349800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr2:190339600-190350000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:190339600-190352600	Weak transcription	Colon Smooth Muscle	Colon
19	chr2:190340600-190348800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr2:190340800-190352400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr2:190341200-190347000	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr2:190341200-190347200	Weak transcription	Adipose Nuclei	Adipose
23	chr2:190341200-190348600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr2:190341200-190348600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:190341400-190348600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr2:190341600-190348600	Weak transcription	Fetal Intestine Large	intestine
27	chr2:190341600-190348600	Weak transcription	Left Ventricle	heart
28	chr2:190341600-190350800	Weak transcription	Liver	Liver
29	chr2:190341800-190351000	Weak transcription	HMEC	breast
30	chr2:190341800-190351200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr2:190342400-190357000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:190342600-190349000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:190342800-190350000	Weak transcription	HSMM	muscle
34	chr2:190343000-190348200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:190343000-190348600	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr2:190345200-190347400	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr2:190346200-190349600	Enhancers	Placenta	Placenta
38	chr2:190347200-190347400	Enhancers	Adipose Nuclei	Adipose
39	chr2:190347400-190347600	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr2:190347600-190348000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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