Variant report

Variant	rs17127190
Chromosome Location	chr1:85874699-85874700
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:85874645-85874777	ProgFib	skin:	n/a	n/a
2	POLR2A	chr1:85874629-85874715	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
DDAH1	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1802445	1.00[ASW][hapmap]
rs233075	0.85[ASN][1000 genomes]
rs233081	0.83[ASN][1000 genomes]
rs2389913	0.91[ASN][1000 genomes]
rs3738111	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs4949902	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs553257	0.82[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs61769519	0.97[ASN][1000 genomes]
rs61783053	0.91[ASN][1000 genomes]
rs61783054	0.91[ASN][1000 genomes]
rs7554669	0.87[ASN][1000 genomes]
rs761602	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv830470	chr1:85820775-86014080	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1008877	chr1:85843238-85897570	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85864800-85876800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr1:85870200-85874800	Enhancers	Osteobl	bone
3	chr1:85871400-85878400	Weak transcription	Fetal Muscle Leg	muscle
4	chr1:85871600-85876600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr1:85871800-85877000	Weak transcription	Ovary	ovary
6	chr1:85872000-85877200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr1:85872800-85874800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:85873000-85875400	Enhancers	Brain Anterior Caudate	brain
9	chr1:85873200-85876000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:85873200-85879600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr1:85873400-85874800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:85873400-85874800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:85873400-85875400	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr1:85873400-85876800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:85873400-85876800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr1:85873400-85882800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr1:85873600-85875000	Enhancers	HUVEC	blood vessel
18	chr1:85873600-85885000	Weak transcription	Fetal Intestine Large	intestine
19	chr1:85873800-85875400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:85873800-85875400	Enhancers	Liver	Liver
21	chr1:85873800-85876600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr1:85873800-85876800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr1:85873800-85882000	Weak transcription	Fetal Intestine Small	intestine
24	chr1:85873800-85885400	Weak transcription	Fetal Stomach	stomach
25	chr1:85873800-85887600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:85874000-85875200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:85874000-85875400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:85874000-85876600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr1:85874000-85876800	Weak transcription	HSMM	muscle
30	chr1:85874000-85877000	Weak transcription	NHDF-Ad	bronchial
31	chr1:85874000-85877400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:85874000-85878000	Weak transcription	Stomach Mucosa	stomach
33	chr1:85874000-85903800	Weak transcription	NHLF	lung
34	chr1:85874200-85903600	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr1:85874400-85875200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:85874400-85877000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:85874400-85903600	Weak transcription	HepG2	liver
38	chr1:85874400-85904200	Weak transcription	NH-A	brain
39	chr1:85874600-85875000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:85874600-85875400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:85874600-85876000	Enhancers	Pancreas	Pancrea
42	chr1:85874600-85876600	Weak transcription	HSMMtube	muscle
43	chr1:85874600-85877200	Weak transcription	Aorta	Aorta

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