Variant report

Variant	rs685746
Chromosome Location	chr1:10537437-10537438
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:10536268..10539627-chr1:10553457..10556201,3	K562	blood:
2	chr1:10528950..10534210-chr1:10534257..10537658,6	K562	blood:
3	chr1:10536910..10540005-chr1:10543843..10547119,3	K562	blood:
4	chr1:10508871..10511200-chr1:10534992..10537583,2	K562	blood:

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

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10864458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10864459	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs10864460	1.00[CEU][hapmap]
rs11121579	0.94[YRI][hapmap];0.87[AFR][1000 genomes]
rs1152739	0.88[EUR][1000 genomes]
rs1188525	0.91[EUR][1000 genomes]
rs1188526	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs1188528	0.83[EUR][1000 genomes]
rs1188529	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12565133	0.94[YRI][hapmap]
rs1411402	0.86[CEU][hapmap]
rs1632108	0.89[EUR][1000 genomes]
rs2056417	0.86[CEU][hapmap]
rs2483677	0.86[CEU][hapmap]
rs2506901	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs2506902	0.95[CEU][hapmap]
rs2781230	0.95[CEU][hapmap]
rs2781232	0.91[EUR][1000 genomes]
rs2781233	0.87[YRI][hapmap];0.80[AFR][1000 genomes]
rs2847344	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs585870	0.95[CEU][hapmap];0.91[EUR][1000 genomes]
rs587916	0.91[EUR][1000 genomes]
rs589400	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs596537	0.96[CEU][hapmap];0.90[EUR][1000 genomes]
rs597438	0.90[EUR][1000 genomes]
rs607941	0.95[CEU][hapmap];0.91[EUR][1000 genomes]
rs616402	0.86[CEU][hapmap]
rs620405	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs622623	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs636291	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs648324	0.96[CEU][hapmap];0.90[EUR][1000 genomes]
rs648399	0.96[CEU][hapmap];0.90[EUR][1000 genomes]
rs652771	0.91[EUR][1000 genomes]
rs6540933	0.91[EUR][1000 genomes]
rs655271	0.82[AFR][1000 genomes]
rs657244	0.81[EUR][1000 genomes]
rs660725	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs662064	0.95[CEU][hapmap];0.89[EUR][1000 genomes]
rs663864	0.87[AFR][1000 genomes]
rs6658216	0.86[EUR][1000 genomes]
rs668805	0.95[CEU][hapmap];0.91[EUR][1000 genomes]
rs669701	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs670666	0.81[YRI][hapmap]
rs672606	0.83[AFR][1000 genomes]
rs673254	0.82[YRI][hapmap]
rs683864	0.89[EUR][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:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10535800-10555000	Weak transcription	Aorta	Aorta
2	chr1:10536000-10539200	Weak transcription	Lung	lung
3	chr1:10536000-10544800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:10536000-10548200	Weak transcription	Ovary	ovary
5	chr1:10536000-10549800	Weak transcription	Gastric	stomach
6	chr1:10536000-10549800	Weak transcription	Left Ventricle	heart
7	chr1:10536000-10550200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:10536000-10555000	Weak transcription	Esophagus	oesophagus
9	chr1:10536000-10555000	Weak transcription	HSMMtube	muscle
10	chr1:10536000-10555600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:10536200-10537800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr1:10536200-10538000	Enhancers	Adipose Nuclei	Adipose
13	chr1:10536200-10544400	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr1:10536200-10544800	Weak transcription	Osteobl	bone
15	chr1:10536200-10555000	Weak transcription	NH-A	brain
16	chr1:10536400-10537600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr1:10536400-10537600	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr1:10536400-10537800	Enhancers	Fetal Intestine Large	intestine
19	chr1:10536400-10538200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:10536400-10539200	Weak transcription	Primary T cells from cord blood	blood
21	chr1:10536400-10541400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:10536400-10541600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:10536400-10544200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:10536400-10549400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr1:10536400-10549400	Weak transcription	A549	lung
26	chr1:10536400-10549600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr1:10536400-10549800	Weak transcription	Primary B cells from cord blood	blood
28	chr1:10536400-10550000	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr1:10536400-10550000	Weak transcription	Brain Germinal Matrix	brain
30	chr1:10536400-10553000	Weak transcription	Psoas Muscle	Psoas
31	chr1:10536400-10554000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:10536400-10554600	Weak transcription	Rectal Smooth Muscle	rectum
33	chr1:10536400-10554800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr1:10536400-10554800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr1:10536400-10554800	Weak transcription	Fetal Brain Male	brain
36	chr1:10536400-10554800	Weak transcription	NHDF-Ad	bronchial
37	chr1:10536400-10555000	Weak transcription	Fetal Kidney	kidney
38	chr1:10536400-10555000	Weak transcription	HSMM	muscle
39	chr1:10536600-10537600	Enhancers	K562	blood
40	chr1:10536600-10537600	Weak transcription	NHEK	skin
41	chr1:10536600-10537800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:10536600-10537800	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr1:10536600-10537800	Enhancers	Dnd41	blood
44	chr1:10536600-10538600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr1:10536600-10538600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr1:10536600-10538600	Weak transcription	Fetal Stomach	stomach
47	chr1:10536600-10539200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:10536600-10539200	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr1:10536600-10539200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr1:10536600-10539400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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