Variant report

Variant	rs1200138
Chromosome Location	chr1:169080837-169080838
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	chr1:169080364..169082567-chr1:169082625..169085325,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1200136	1.00[CHB][hapmap];0.84[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1200137	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1200139	0.86[EUR][1000 genomes]
rs1358714	1.00[JPT][hapmap]
rs1358715	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs61803311	1.00[ASN][1000 genomes]
rs61803312	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	esv3522071	chr1:168978325-169339044	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv3522072	chr1:168978325-169339044	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv831858	chr1:169022383-169179068	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169076400-169081000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr1:169076800-169084800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:169077200-169082800	Weak transcription	Aorta	Aorta
4	chr1:169077200-169085200	Weak transcription	Spleen	Spleen
5	chr1:169077400-169081000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:169077400-169081000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
7	chr1:169078400-169081400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:169078400-169083800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:169078800-169082200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr1:169079000-169081000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:169079200-169081400	Weak transcription	Gastric	stomach
12	chr1:169079600-169081200	Enhancers	Stomach Mucosa	stomach
13	chr1:169079800-169081000	Weak transcription	Dnd41	blood
14	chr1:169079800-169081400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:169079800-169081400	Weak transcription	Fetal Muscle Leg	muscle
16	chr1:169079800-169081800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:169079800-169082200	Enhancers	Ovary	ovary
18	chr1:169079800-169085000	Weak transcription	Adipose Nuclei	Adipose
19	chr1:169079800-169085200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:169079800-169094600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr1:169079800-169105800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr1:169080000-169081200	Enhancers	Fetal Brain Male	brain
23	chr1:169080000-169082800	Weak transcription	HSMMtube	muscle
24	chr1:169080000-169085000	Genic enhancers	HepG2	liver
25	chr1:169080200-169081200	Weak transcription	Fetal Kidney	kidney
26	chr1:169080200-169081400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr1:169080200-169081400	Weak transcription	Thymus	Thymus
28	chr1:169080200-169081400	Weak transcription	NHDF-Ad	bronchial
29	chr1:169080200-169082400	Weak transcription	Brain Germinal Matrix	brain
30	chr1:169080200-169084400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr1:169080200-169085000	Weak transcription	Colonic Mucosa	Colon
32	chr1:169080200-169086400	Genic enhancers	Fetal Intestine Small	intestine
33	chr1:169080200-169088800	Genic enhancers	Hela-S3	cervix
34	chr1:169080200-169089800	Genic enhancers	Fetal Intestine Large	intestine
35	chr1:169080400-169081000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:169080400-169081000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr1:169080400-169081000	Enhancers	Small Intestine	intestine
38	chr1:169080400-169081200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr1:169080400-169081400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr1:169080400-169081400	Weak transcription	NHEK	skin
41	chr1:169080400-169081600	Flanking Active TSS	Fetal Heart	heart
42	chr1:169080400-169081800	Enhancers	Lung	lung
43	chr1:169080400-169082000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr1:169080400-169082000	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
45	chr1:169080400-169082000	Genic enhancers	Pancreas	Pancrea
46	chr1:169080400-169082000	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr1:169080400-169082200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr1:169080400-169082400	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
49	chr1:169080400-169083400	Enhancers	Placenta	Placenta
50	chr1:169080400-169083800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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