Variant report

Variant	rs1265173
Chromosome Location	chr1:95389289-95389290
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	chr1:95389178-95394521	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:95387353..95389524-chr1:95396691..95399201,2	K562	blood:

Variant related genes	Relation type
ENSG00000235501	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1146466	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146468	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1265174	1.00[EUR][1000 genomes]
rs1269729	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1832961	1.00[EUR][1000 genomes]
rs2766009	1.00[EUR][1000 genomes]
rs2797627	1.00[EUR][1000 genomes]
rs4083970	1.00[EUR][1000 genomes]
rs56785527	1.00[EUR][1000 genomes]
rs6691935	1.00[EUR][1000 genomes]
rs698970	1.00[EUR][1000 genomes]
rs72964574	1.00[EUR][1000 genomes]
rs72964575	1.00[EUR][1000 genomes]
rs7543891	1.00[EUR][1000 genomes]
rs859049	1.00[EUR][1000 genomes]
rs859056	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs859059	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs859083	1.00[EUR][1000 genomes]
rs943200	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv947291	chr1:95382933-95393244	Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95357800-95390800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr1:95368400-95390600	Weak transcription	Fetal Thymus	thymus
3	chr1:95383400-95389400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:95384600-95389400	Genic enhancers	HepG2	liver
5	chr1:95384800-95389400	Enhancers	Brain Substantia Nigra	brain
6	chr1:95385400-95389400	Weak transcription	Colonic Mucosa	Colon
7	chr1:95385600-95389400	Weak transcription	Spleen	Spleen
8	chr1:95385600-95390600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:95386000-95389400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:95386000-95389400	Weak transcription	Esophagus	oesophagus
11	chr1:95386400-95390600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr1:95386600-95389600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:95386600-95391000	Transcr. at gene 5' and 3'	HSMM	muscle
14	chr1:95386800-95389400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr1:95386800-95390200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:95387000-95389600	Transcr. at gene 5' and 3'	NHLF	lung
17	chr1:95387000-95395400	Active TSS	Aorta	Aorta
18	chr1:95387200-95389600	Genic enhancers	HUES48 Cell Line	embryonic stem cell
19	chr1:95387200-95389600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:95387400-95389400	Genic enhancers	HUVEC	blood vessel
21	chr1:95387400-95389600	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:95387600-95389400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr1:95387800-95389400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr1:95387800-95389600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr1:95388000-95389400	Enhancers	HMEC	breast
26	chr1:95388000-95389800	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
27	chr1:95388000-95390000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:95388000-95390000	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
29	chr1:95388000-95390400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:95388200-95389400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:95388200-95389400	Enhancers	Liver	Liver
32	chr1:95388200-95389400	Active TSS	Brain Anterior Caudate	brain
33	chr1:95388200-95389400	Active TSS	Brain Cingulate Gyrus	brain
34	chr1:95388200-95389400	Enhancers	Fetal Lung	lung
35	chr1:95388200-95389600	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr1:95388200-95389600	Enhancers	Right Ventricle	heart
37	chr1:95388200-95389600	Transcr. at gene 5' and 3'	NH-A	brain
38	chr1:95388200-95389800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr1:95388200-95389800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:95388200-95389800	Transcr. at gene 5' and 3'	Osteobl	bone
41	chr1:95388200-95390000	Transcr. at gene 5' and 3'	Cortex derived primary cultured neurospheres	brain
42	chr1:95388200-95390000	Flanking Active TSS	NHDF-Ad	bronchial
43	chr1:95388200-95390600	Active TSS	Rectal Mucosa Donor 29	rectum
44	chr1:95388400-95389400	Weak transcription	Pancreas	Pancrea
45	chr1:95388400-95389600	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr1:95388400-95389800	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr1:95388400-95390000	Transcr. at gene 5' and 3'	Fetal Muscle Trunk	muscle
48	chr1:95388400-95390000	Genic enhancers	A549	lung
49	chr1:95388400-95390400	Enhancers	Placenta Amnion	Placenta Amnion
50	chr1:95388400-95391200	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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