Variant report

Variant	rs10190353
Chromosome Location	chr2:54242825-54242826
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:54236599..54238430-chr2:54241377..54242897,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10188834	0.83[AMR][1000 genomes]
rs10193846	0.81[EUR][1000 genomes]
rs10199995	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1049894	0.88[AMR][1000 genomes]
rs11125517	0.83[AMR][1000 genomes]
rs11884857	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11886366	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11887593	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11889527	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11904365	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13395751	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13401491	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13401719	0.83[AMR][1000 genomes]
rs13417051	0.88[AMR][1000 genomes]
rs13432387	0.88[AMR][1000 genomes]
rs2112120	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2161083	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28571698	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28699646	0.88[AMR][1000 genomes]
rs41536750	0.88[AMR][1000 genomes]
rs58920915	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60769690	0.83[AMR][1000 genomes]
rs60776154	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6545382	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6715161	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6719990	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6723722	0.94[AMR][1000 genomes]
rs6730494	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6745729	0.88[AMR][1000 genomes]
rs6748686	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6751340	0.83[AMR][1000 genomes]
rs72904915	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72906704	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72906711	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72906714	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72906778	0.81[EUR][1000 genomes]
rs72906786	0.81[EUR][1000 genomes]
rs72906787	0.81[EUR][1000 genomes]
rs7556936	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7559651	1.00[AMR][1000 genomes]
rs7583508	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7588134	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7588319	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7608085	0.88[AMR][1000 genomes]
rs9678301	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001246	chr2:54195654-54434832	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	nsv1003205	chr2:54220049-54700843	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv2762639	chr2:54220049-54700855	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1011790	chr2:54220049-54714553	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1002891	chr2:54227005-54682169	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv535722	chr2:54227005-54682169	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54208400-54248200	Weak transcription	Lung	lung
2	chr2:54211400-54243000	Weak transcription	Fetal Muscle Leg	muscle
3	chr2:54213600-54249800	Weak transcription	Left Ventricle	heart
4	chr2:54217000-54248200	Weak transcription	Gastric	stomach
5	chr2:54226600-54243000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr2:54228800-54243400	Weak transcription	Fetal Lung	lung
7	chr2:54229000-54243000	Weak transcription	Right Atrium	heart
8	chr2:54229200-54245800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:54235400-54246400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:54235800-54243600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:54237200-54243000	Weak transcription	Brain Hippocampus Middle	brain
12	chr2:54237200-54243000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr2:54237400-54243000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr2:54238200-54246800	Weak transcription	Spleen	Spleen
15	chr2:54240000-54248200	Weak transcription	Psoas Muscle	Psoas
16	chr2:54240200-54243000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr2:54240200-54243000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr2:54240200-54243800	Enhancers	Primary T cells from cord blood	blood
19	chr2:54240200-54248000	Weak transcription	Adipose Nuclei	Adipose
20	chr2:54240200-54257000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr2:54240600-54248200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr2:54241400-54245600	Weak transcription	Fetal Muscle Trunk	muscle
23	chr2:54241400-54247400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr2:54241400-54248200	Weak transcription	Thymus	Thymus
25	chr2:54241600-54243000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr2:54241600-54243000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr2:54241600-54243000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:54241600-54243400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr2:54241800-54243000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr2:54241800-54243000	Weak transcription	Fetal Thymus	thymus
31	chr2:54241800-54247600	Weak transcription	Primary B cells from cord blood	blood
32	chr2:54242000-54243400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:54242000-54244400	Weak transcription	Primary B cells from peripheral blood	blood
34	chr2:54242200-54243200	Enhancers	Small Intestine	intestine
35	chr2:54242200-54247600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr2:54242200-54251800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr2:54242400-54243000	Enhancers	Stomach Smooth Muscle	stomach
38	chr2:54242400-54243000	Enhancers	A549	lung
39	chr2:54242400-54243200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:54242400-54247800	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr2:54242600-54243400	Enhancers	Fetal Stomach	stomach
42	chr2:54242600-54243800	Enhancers	Brain Substantia Nigra	brain
43	chr2:54242600-54243800	Enhancers	Colon Smooth Muscle	Colon
44	chr2:54242600-54243800	Enhancers	Osteobl	bone
45	chr2:54242600-54244000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:54242600-54244400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:54242600-54244400	Enhancers	NHDF-Ad	bronchial
48	chr2:54242800-54243200	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr2:54242800-54243200	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr2:54242800-54243200	Enhancers	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links