Variant report

Variant	rs655271
Chromosome Location	chr1:10536635-10536636
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:10456887..10459867-chr1:10534957..10536960,2	K562	blood:
2	chr1:10536268..10539627-chr1:10553457..10556201,3	K562	blood:
3	chr1:10528950..10534210-chr1:10534257..10537658,6	K562	blood:
4	chr1:10364625..10366634-chr1:10534316..10536742,2	K562	blood:
5	chr1:10457843..10460253-chr1:10533493..10537083,3	MCF-7	breast:
6	chr1:10508871..10511200-chr1:10534992..10537583,2	K562	blood:

Variant related genes	Relation type
ENSG00000142657	Chromatin interaction
ENSG00000142655	Chromatin interaction
ENSG00000241563	Chromatin interaction
ENSG00000160049	Chromatin interaction
ENSG00000264501	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10746494	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10864458	0.82[AFR][1000 genomes]
rs11121579	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1203122	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12073943	0.83[EUR][1000 genomes]
rs12565133	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1307485	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1307487	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1750349	0.85[ASN][1000 genomes]
rs1760664	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2186949	0.88[EUR][1000 genomes]
rs2483684	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2781233	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs481571	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs505141	0.80[EUR][1000 genomes]
rs519472	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs522280	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs524150	0.80[EUR][1000 genomes]
rs528713	0.80[EUR][1000 genomes]
rs585406	0.82[EUR][1000 genomes]
rs586223	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs628462	0.85[ASN][1000 genomes]
rs634358	0.80[EUR][1000 genomes]
rs649101	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs649639	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs663864	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs670666	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs672606	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs673254	0.97[EUR][1000 genomes]
rs678850	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs684016	0.92[EUR][1000 genomes]
rs685746	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757722	chr1:10238070-10582554	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv2758920	chr1:10238070-10582554	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv817370	chr1:10305470-10697150	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1008021	chr1:10363794-10802633	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	esv2764192	chr1:10383734-10594186	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv1003498	chr1:10445928-10607351	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv998731	chr1:10464176-10607351	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10535600-10537000	Flanking Active TSS	Liver	Liver
2	chr1:10535800-10536800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr1:10535800-10536800	Enhancers	Spleen	Spleen
4	chr1:10535800-10537000	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr1:10535800-10537200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr1:10535800-10555000	Weak transcription	Aorta	Aorta
7	chr1:10536000-10536800	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr1:10536000-10536800	Enhancers	Placenta	Placenta
9	chr1:10536000-10536800	Enhancers	Pancreas	Pancrea
10	chr1:10536000-10536800	Enhancers	Right Ventricle	heart
11	chr1:10536000-10537000	Enhancers	Small Intestine	intestine
12	chr1:10536000-10537200	Enhancers	Primary T cells fromperipheralblood	blood
13	chr1:10536000-10537200	Flanking Active TSS	HepG2	liver
14	chr1:10536000-10537400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr1:10536000-10539200	Weak transcription	Lung	lung
16	chr1:10536000-10544800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:10536000-10548200	Weak transcription	Ovary	ovary
18	chr1:10536000-10549800	Weak transcription	Gastric	stomach
19	chr1:10536000-10549800	Weak transcription	Left Ventricle	heart
20	chr1:10536000-10550200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:10536000-10555000	Weak transcription	Esophagus	oesophagus
22	chr1:10536000-10555000	Weak transcription	HSMMtube	muscle
23	chr1:10536000-10555600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:10536200-10536800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:10536200-10536800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr1:10536200-10536800	Enhancers	Fetal Brain Female	brain
27	chr1:10536200-10536800	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr1:10536200-10537000	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr1:10536200-10537000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr1:10536200-10537000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:10536200-10537000	Enhancers	Colon Smooth Muscle	Colon
32	chr1:10536200-10537000	Enhancers	Fetal Muscle Leg	muscle
33	chr1:10536200-10537000	Enhancers	Fetal Thymus	thymus
34	chr1:10536200-10537800	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr1:10536200-10538000	Enhancers	Adipose Nuclei	Adipose
36	chr1:10536200-10544400	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr1:10536200-10544800	Weak transcription	Osteobl	bone
38	chr1:10536200-10555000	Weak transcription	NH-A	brain
39	chr1:10536400-10536800	Enhancers	Fetal Intestine Small	intestine
40	chr1:10536400-10536800	Enhancers	Right Atrium	heart
41	chr1:10536400-10536800	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr1:10536400-10537000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr1:10536400-10537000	Enhancers	Stomach Smooth Muscle	stomach
44	chr1:10536400-10537200	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr1:10536400-10537600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr1:10536400-10537600	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr1:10536400-10537800	Enhancers	Fetal Intestine Large	intestine
48	chr1:10536400-10538200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr1:10536400-10539200	Weak transcription	Primary T cells from cord blood	blood
50	chr1:10536400-10541400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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