Variant report

Variant	rs953701
Chromosome Location	chr1:185215489-185215490
allele	C/T
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	MYC	chr1:185215487-185215544	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr1:185215488-185215516	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:185215245..185219484-chr1:185283012..185285685,4	K562	blood:

Variant related genes	Relation type
ENSG00000201421	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10489582	1.00[EUR][1000 genomes]
rs10494582	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11802738	0.98[AFR][1000 genomes]
rs11804954	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11811583	0.88[AFR][1000 genomes]
rs12026308	1.00[EUR][1000 genomes]
rs12038977	1.00[EUR][1000 genomes]
rs12041641	1.00[EUR][1000 genomes]
rs12240005	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12240119	0.90[AMR][1000 genomes]
rs16823862	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16823869	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16823875	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16823884	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16823891	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2025228	1.00[EUR][1000 genomes]
rs2144664	1.00[EUR][1000 genomes]
rs3766713	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3766716	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3895195	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41377350	1.00[EUR][1000 genomes]
rs57266144	1.00[EUR][1000 genomes]
rs57927210	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57960155	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58031282	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58292874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs58685423	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59035619	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59227355	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59611551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59818790	1.00[EUR][1000 genomes]
rs60064915	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61537994	1.00[EUR][1000 genomes]
rs61573899	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6672580	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6679946	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6680028	0.90[AFR][1000 genomes]
rs6687946	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6698620	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7515757	0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7516303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7540216	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7555243	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs953702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185127600-185218200	Weak transcription	Right Ventricle	heart
2	chr1:185170800-185218200	Weak transcription	Pancreas	Pancrea
3	chr1:185175600-185217000	Weak transcription	Fetal Stomach	stomach
4	chr1:185192600-185218600	Weak transcription	Aorta	Aorta
5	chr1:185192600-185221000	Weak transcription	Fetal Intestine Small	intestine
6	chr1:185193600-185219200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:185193600-185219400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:185193800-185220400	Weak transcription	Brain Hippocampus Middle	brain
9	chr1:185193800-185263600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr1:185194000-185218600	Weak transcription	Lung	lung
11	chr1:185197200-185218200	Weak transcription	Left Ventricle	heart
12	chr1:185197600-185220400	Weak transcription	Ovary	ovary
13	chr1:185202400-185218800	Weak transcription	Brain Anterior Caudate	brain
14	chr1:185206400-185218200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr1:185209000-185218800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr1:185210400-185218400	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr1:185210600-185250400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr1:185211000-185215800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:185212000-185218200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:185214600-185229400	Weak transcription	NHDF-Ad	bronchial
21	chr1:185214800-185217600	Weak transcription	K562	blood
22	chr1:185215400-185215600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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