Variant report

Variant	rs2510787
Chromosome Location	chr4:95438714-95438715
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:95371867..95374212-chr4:95437393..95439131,2	K562	blood:

Variant related genes	Relation type
ENSG00000203436	Chromatin interaction
ENSG00000163110	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1353044	0.92[CEU][hapmap]
rs2162346	0.85[CEU][hapmap]
rs2433317	0.84[CEU][hapmap]
rs2433324	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2433325	0.92[CEU][hapmap]
rs2438142	0.84[CEU][hapmap]
rs2438144	0.92[CEU][hapmap]
rs2452565	0.86[CEU][hapmap]
rs2452567	0.94[EUR][1000 genomes]
rs2510778	0.84[CEU][hapmap]
rs2510785	0.91[CEU][hapmap]
rs2510786	0.86[CEU][hapmap]
rs2510788	0.92[CEU][hapmap]
rs2510795	0.84[CEU][hapmap]
rs2577056	0.84[CEU][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993495	chr4:94992315-95482578	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv594901	chr4:95254730-95493246	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1003743	chr4:95255957-95469831	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95375000-95440200	Weak transcription	Primary T cells from cord blood	blood
2	chr4:95400800-95440000	Weak transcription	Lung	lung
3	chr4:95415400-95440200	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr4:95421200-95440000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:95421600-95440000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr4:95422400-95482800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr4:95429800-95440000	Weak transcription	Esophagus	oesophagus
8	chr4:95429800-95440000	Weak transcription	Ovary	ovary
9	chr4:95430000-95456200	Weak transcription	Small Intestine	intestine
10	chr4:95430600-95440000	Weak transcription	Right Ventricle	heart
11	chr4:95430600-95444000	Weak transcription	HSMMtube	muscle
12	chr4:95431200-95440000	Weak transcription	Pancreas	Pancrea
13	chr4:95435600-95440000	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr4:95435800-95440200	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr4:95435800-95444600	Enhancers	Fetal Heart	heart
16	chr4:95436200-95439200	Enhancers	NH-A	brain
17	chr4:95436200-95439400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr4:95436200-95439400	Enhancers	Rectal Smooth Muscle	rectum
19	chr4:95436200-95441600	Enhancers	Liver	Liver
20	chr4:95436400-95440000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr4:95436400-95447200	Enhancers	Colon Smooth Muscle	Colon
22	chr4:95436600-95439000	Enhancers	HepG2	liver
23	chr4:95436600-95439600	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr4:95436800-95438800	Enhancers	NHLF	lung
25	chr4:95436800-95447800	Weak transcription	Fetal Intestine Small	intestine
26	chr4:95437200-95438800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr4:95437200-95438800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr4:95437200-95438800	Enhancers	HMEC	breast
29	chr4:95437200-95448400	Weak transcription	HSMM	muscle
30	chr4:95437400-95438800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr4:95437400-95439200	Enhancers	K562	blood
32	chr4:95437400-95440000	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr4:95437400-95445000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr4:95437600-95440000	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr4:95437600-95441000	Enhancers	A549	lung
36	chr4:95437600-95456000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr4:95437800-95440000	Weak transcription	Right Atrium	heart
38	chr4:95437800-95440000	Enhancers	HUVEC	blood vessel
39	chr4:95437800-95440400	Enhancers	Osteobl	bone
40	chr4:95437800-95441200	Weak transcription	NHDF-Ad	bronchial
41	chr4:95437800-95448600	Weak transcription	NHEK	skin
42	chr4:95438000-95438800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr4:95438000-95439800	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr4:95438000-95439800	Weak transcription	Placenta	Placenta
45	chr4:95438000-95440000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr4:95438000-95440000	Weak transcription	Aorta	Aorta
47	chr4:95438000-95440000	Weak transcription	Left Ventricle	heart
48	chr4:95438000-95448400	Weak transcription	Fetal Intestine Large	intestine
49	chr4:95438200-95440400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr4:95438200-95440600	Weak transcription	Colonic Mucosa	Colon

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