Variant report

Variant	rs1200137
Chromosome Location	chr1:169080435-169080436
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];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1200138	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	0.81[CEU][hapmap];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	chr1:169074800-169080800	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr1:169075000-169080600	Active TSS	Brain Cingulate Gyrus	brain
3	chr1:169076400-169080800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:169076400-169081000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:169076600-169080600	Flanking Active TSS	HUVEC	blood vessel
6	chr1:169076800-169084800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:169077200-169080600	Enhancers	Fetal Thymus	thymus
8	chr1:169077200-169082800	Weak transcription	Aorta	Aorta
9	chr1:169077200-169085200	Weak transcription	Spleen	Spleen
10	chr1:169077400-169080600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:169077400-169080800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr1:169077400-169081000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:169077400-169081000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
14	chr1:169078000-169080600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:169078000-169080800	Enhancers	Placenta Amnion	Placenta Amnion
16	chr1:169078200-169080600	Active TSS	A549	lung
17	chr1:169078400-169081400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:169078400-169083800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:169078800-169082200	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr1:169079000-169080600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:169079000-169080600	Flanking Active TSS	Osteobl	bone
22	chr1:169079000-169081000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:169079200-169080600	Enhancers	Esophagus	oesophagus
24	chr1:169079200-169081400	Weak transcription	Gastric	stomach
25	chr1:169079600-169080600	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr1:169079600-169080600	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr1:169079600-169081200	Enhancers	Stomach Mucosa	stomach
28	chr1:169079800-169080600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:169079800-169080600	Active TSS	Brain Hippocampus Middle	brain
30	chr1:169079800-169080600	Enhancers	HMEC	breast
31	chr1:169079800-169080800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:169079800-169080800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:169079800-169080800	Enhancers	Brain Substantia Nigra	brain
34	chr1:169079800-169080800	Enhancers	Fetal Lung	lung
35	chr1:169079800-169081000	Weak transcription	Dnd41	blood
36	chr1:169079800-169081400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr1:169079800-169081400	Weak transcription	Fetal Muscle Leg	muscle
38	chr1:169079800-169081800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:169079800-169082200	Enhancers	Ovary	ovary
40	chr1:169079800-169085000	Weak transcription	Adipose Nuclei	Adipose
41	chr1:169079800-169085200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:169079800-169094600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr1:169079800-169105800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr1:169080000-169080600	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr1:169080000-169080600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr1:169080000-169080600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr1:169080000-169080600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:169080000-169080600	Enhancers	Liver	Liver
49	chr1:169080000-169080600	Enhancers	Colon Smooth Muscle	Colon
50	chr1:169080000-169080600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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