Variant report

Variant	esv3443014
Chromosome Location	chr2:190449629-190450061
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr2:190447913-190450728	PBDE	blood:	n/a	chr2:190449721-190449734 chr2:190449719-190449735
2	POLR2A	chr2:190449776-190449889	MCF10A-Er-Src	breast:	n/a	n/a
3	ZNF384	chr2:190449289-190449865	K562	blood:	n/a	n/a

Variant related genes	Relation type
SLC40A1	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112075002	chr2:190449641-190449642	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs574814378	chr2:190449678-190449679	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs147965138	chr2:190449679-190449680	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs138934183	chr2:190449688-190449689	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs572423477	chr2:190449775-190449776	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs144011969	chr2:190449805-190449806	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs561303458	chr2:190449807-190449808	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs34694323	chr2:190449895-190449896	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs531837067	chr2:190449919-190449920	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs16831704	chr2:190449933-190449934	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs564918567	chr2:190449940-190449941	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs532354451	chr2:190450005-190450006	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs191572682	chr2:190450008-190450009	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs576319631	chr2:190450013-190450014	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs143871941	chr2:190450037-190450038	Weak transcription Enhancers	TF binding region	1 gene(s)	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
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
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190446800-190450200	Weak transcription	HUVEC	blood vessel
2	chr2:190446800-190450400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:190447400-190452200	Weak transcription	Primary T cells from cord blood	blood
4	chr2:190448200-190450400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:190448400-190449800	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr2:190448400-190457400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr2:190448600-190449800	Enhancers	Fetal Intestine Small	intestine
8	chr2:190448600-190450400	Enhancers	Fetal Intestine Large	intestine
9	chr2:190448600-190450600	Enhancers	Liver	Liver
10	chr2:190448600-190450600	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr2:190448600-190451400	Enhancers	Ovary	ovary
12	chr2:190449200-190449800	Flanking Active TSS	K562	blood
13	chr2:190449200-190450000	Enhancers	Duodenum Mucosa	Duodenum
14	chr2:190449200-190450200	Enhancers	HepG2	liver
15	chr2:190449400-190449800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:190449400-190450600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:190449600-190450600	Enhancers	Stomach Mucosa	stomach
18	chr2:190449800-190450600	Enhancers	HMEC	breast
19	chr2:190449800-190450600	Enhancers	K562	blood
20	chr2:190449800-190452400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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