Variant report

Variant	rs2452565
Chromosome Location	chr4:95437443-95437444
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:95429157..95431887-chr4:95434786..95438000,3	K562	blood:
2	chr4:95371867..95374212-chr4:95437393..95439131,2	K562	blood:
3	chr4:95405697..95407319-chr4:95434708..95437495,2	K562	blood:

Variant related genes	Relation type
ENSG00000163110	Chromatin interaction
ENSG00000203436	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1353044	1.00[CEU][hapmap];0.87[CHB][hapmap];0.92[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2433317	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2433318	0.87[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs2433324	0.89[CEU][hapmap];0.87[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs2433325	1.00[CEU][hapmap];0.87[CHB][hapmap];0.92[JPT][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2438141	0.85[ASN][1000 genomes]
rs2438142	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2438143	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2438144	1.00[CEU][hapmap];0.87[CHB][hapmap];0.92[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2438145	0.89[ASN][1000 genomes]
rs2452554	0.86[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs2452556	0.87[ASN][1000 genomes]
rs2452557	0.87[ASN][1000 genomes]
rs2452558	0.89[ASN][1000 genomes]
rs2452559	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2452560	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2452561	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2452562	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2452564	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2452566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2452568	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2510778	0.94[CEU][hapmap]
rs2510785	1.00[CEU][hapmap];0.87[CHB][hapmap];0.92[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2510786	1.00[CEU][hapmap];0.82[CHB][hapmap];0.93[JPT][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2510787	0.86[CEU][hapmap]
rs2510788	1.00[CEU][hapmap];0.87[CHB][hapmap];0.92[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2510791	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2510792	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2510794	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2510795	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2510798	0.89[ASN][1000 genomes]
rs2510799	0.87[ASN][1000 genomes]
rs2510800	0.87[CHB][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs2510801	0.85[ASN][1000 genomes]
rs2510802	0.86[CHB][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs2510803	0.84[JPT][hapmap];0.80[ASN][1000 genomes]
rs2510804	0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs2577056	0.94[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:56 , 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	chr4:95429800-95437600	Weak transcription	Psoas Muscle	Psoas
8	chr4:95429800-95440000	Weak transcription	Esophagus	oesophagus
9	chr4:95429800-95440000	Weak transcription	Ovary	ovary
10	chr4:95430000-95437600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr4:95430000-95456200	Weak transcription	Small Intestine	intestine
12	chr4:95430600-95440000	Weak transcription	Right Ventricle	heart
13	chr4:95430600-95444000	Weak transcription	HSMMtube	muscle
14	chr4:95431200-95440000	Weak transcription	Pancreas	Pancrea
15	chr4:95431400-95438600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr4:95432000-95437600	Weak transcription	Left Ventricle	heart
17	chr4:95435600-95440000	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr4:95435800-95440200	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr4:95435800-95444600	Enhancers	Fetal Heart	heart
20	chr4:95436200-95437600	Enhancers	Placenta Amnion	Placenta Amnion
21	chr4:95436200-95438400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr4:95436200-95439200	Enhancers	NH-A	brain
23	chr4:95436200-95439400	Enhancers	Muscle Satellite Cultured Cells	--
24	chr4:95436200-95439400	Enhancers	Rectal Smooth Muscle	rectum
25	chr4:95436200-95441600	Enhancers	Liver	Liver
26	chr4:95436400-95438000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr4:95436400-95438000	Enhancers	Fetal Intestine Large	intestine
28	chr4:95436400-95440000	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr4:95436400-95447200	Enhancers	Colon Smooth Muscle	Colon
30	chr4:95436600-95437800	Genic enhancers	HUVEC	blood vessel
31	chr4:95436600-95439000	Enhancers	HepG2	liver
32	chr4:95436600-95439600	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr4:95436800-95437600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr4:95436800-95437800	Enhancers	NHEK	skin
35	chr4:95436800-95438200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr4:95436800-95438800	Enhancers	NHLF	lung
37	chr4:95436800-95447800	Weak transcription	Fetal Intestine Small	intestine
38	chr4:95437000-95437600	Flanking Active TSS	A549	lung
39	chr4:95437000-95437800	Enhancers	NHDF-Ad	bronchial
40	chr4:95437000-95437800	Flanking Active TSS	Osteobl	bone
41	chr4:95437000-95438600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr4:95437200-95438200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr4:95437200-95438200	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr4:95437200-95438400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr4:95437200-95438800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr4:95437200-95438800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr4:95437200-95438800	Enhancers	HMEC	breast
48	chr4:95437200-95448400	Weak transcription	HSMM	muscle
49	chr4:95437400-95437600	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr4:95437400-95438000	Enhancers	Aorta	Aorta

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