Variant report

Variant	rs11588625
Chromosome Location	chr1:221058846-221058847
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:221049482..221052010-chr1:221057978..221059947,2	K562	blood:

Variant related genes	Relation type
ENSG00000136630	Chromatin interaction

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

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

rs_ID	r²[population]
rs10495155	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11578466	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11580070	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1572384	0.83[CEU][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2738751	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2738756	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2784250	0.95[EUR][1000 genomes]
rs2784252	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2784254	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2784273	0.83[CEU][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2807862	0.89[EUR][1000 genomes]
rs2807866	0.83[CEU][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3125046	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs41369048	0.86[EUR][1000 genomes]
rs950635	0.89[EUR][1000 genomes]

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	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	esv1798350	chr1:221020278-221069740	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221054800-221061000	Weak transcription	HSMM	muscle
2	chr1:221055800-221060400	Weak transcription	Hela-S3	cervix
3	chr1:221056000-221061000	Weak transcription	NHDF-Ad	bronchial
4	chr1:221056200-221059200	Strong transcription	Osteobl	bone
5	chr1:221056200-221060400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:221056400-221059000	Strong transcription	Muscle Satellite Cultured Cells	--
7	chr1:221056400-221060200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:221056600-221060000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:221056600-221060400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:221056800-221059200	Transcr. at gene 5' and 3'	Colon Smooth Muscle	Colon
11	chr1:221056800-221059400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:221056800-221060400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:221057000-221060000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:221057000-221060200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:221057000-221060400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
16	chr1:221057000-221061800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
17	chr1:221057200-221059000	Genic enhancers	Placenta	Placenta
18	chr1:221057200-221059000	Genic enhancers	Lung	lung
19	chr1:221057200-221059400	Strong transcription	HUVEC	blood vessel
20	chr1:221057200-221059800	Strong transcription	Skeletal Muscle Male	skeletal muscle
21	chr1:221057200-221060000	Strong transcription	NHLF	lung
22	chr1:221057400-221059600	Genic enhancers	Monocytes-CD14+_RO01746	blood
23	chr1:221057600-221059000	Strong transcription	Primary hematopoietic stem cells	blood
24	chr1:221057600-221059000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr1:221057600-221059000	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr1:221057600-221059200	Strong transcription	HSMMtube	muscle
27	chr1:221057600-221060200	Strong transcription	Adipose Nuclei	Adipose
28	chr1:221057800-221059200	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr1:221057800-221060000	Strong transcription	Liver	Liver
30	chr1:221057800-221060200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
31	chr1:221058000-221059000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:221058200-221059000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:221058200-221059000	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr1:221058200-221059000	Transcr. at gene 5' and 3'	Rectal Smooth Muscle	rectum
35	chr1:221058200-221060000	Strong transcription	Right Ventricle	heart
36	chr1:221058200-221060000	Strong transcription	Spleen	Spleen
37	chr1:221058200-221060200	Strong transcription	Left Ventricle	heart
38	chr1:221058200-221061200	Weak transcription	Psoas Muscle	Psoas
39	chr1:221058400-221059000	Strong transcription	Colonic Mucosa	Colon
40	chr1:221058400-221059600	Genic enhancers	Duodenum Smooth Muscle	Duodenum
41	chr1:221058400-221059800	Strong transcription	Fetal Muscle Trunk	muscle
42	chr1:221058400-221061000	Weak transcription	Aorta	Aorta
43	chr1:221058600-221059400	Strong transcription	Primary B cells from cord blood	blood
44	chr1:221058800-221059400	Weak transcription	Brain Hippocampus Middle	brain
45	chr1:221058800-221060000	Strong transcription	Fetal Muscle Leg	muscle
46	chr1:221058800-221060000	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr1:221058800-221060800	Weak transcription	Pancreas	Pancrea
48	chr1:221058800-221061000	Weak transcription	Gastric	stomach

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