Variant report

Variant	rs73046257
Chromosome Location	chr2:183876457-183876458
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:183874817..183877710-chr2:183883545..183886850,4	K562	blood:
2	chr2:183875038..183877044-chr2:183902052..183904023,3	K562	blood:
3	chr2:183875662..183878487-chr2:183902178..183904297,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000061676	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs11885629	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11885833	1.00[EUR][1000 genomes]
rs11888086	1.00[EUR][1000 genomes]
rs11892717	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11896088	1.00[EUR][1000 genomes]
rs16823829	1.00[EUR][1000 genomes]
rs16823945	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16823948	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16823949	1.00[EUR][1000 genomes]
rs16823966	1.00[EUR][1000 genomes]
rs16823968	0.96[AFR][1000 genomes]
rs2102770	0.96[AFR][1000 genomes]
rs4358084	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55803212	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55886059	1.00[EUR][1000 genomes]
rs56179717	1.00[EUR][1000 genomes]
rs56219690	0.84[AFR][1000 genomes]
rs56344408	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56362542	1.00[EUR][1000 genomes]
rs57047150	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58515193	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59253255	1.00[AMR][1000 genomes]
rs59308931	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60558126	1.00[EUR][1000 genomes]
rs60602756	1.00[EUR][1000 genomes]
rs60705462	0.86[AFR][1000 genomes]
rs6733333	1.00[EUR][1000 genomes]
rs6736252	1.00[EUR][1000 genomes]
rs6757286	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73035662	0.86[AFR][1000 genomes]
rs73037284	1.00[EUR][1000 genomes]
rs73040079	1.00[EUR][1000 genomes]
rs73040083	1.00[EUR][1000 genomes]
rs73040085	1.00[EUR][1000 genomes]
rs73040088	1.00[EUR][1000 genomes]
rs73042107	1.00[EUR][1000 genomes]
rs73042129	1.00[EUR][1000 genomes]
rs73042136	1.00[EUR][1000 genomes]
rs73042149	1.00[EUR][1000 genomes]
rs73042166	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73046211	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73046213	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73046217	1.00[EUR][1000 genomes]
rs73046218	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73046222	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73046226	1.00[EUR][1000 genomes]
rs73046232	1.00[EUR][1000 genomes]
rs73046235	1.00[EUR][1000 genomes]
rs73046260	1.00[EUR][1000 genomes]
rs73048203	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73980523	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73980527	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7558834	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7561870	1.00[EUR][1000 genomes]
rs7584932	1.00[EUR][1000 genomes]
rs7601416	1.00[EUR][1000 genomes]
rs7602182	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1005281	chr2:183803173-184093877	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv875485	chr2:183827018-184195265	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1010799	chr2:183855680-184244721	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv536072	chr2:183855680-184244721	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183773400-183877800	Weak transcription	Stomach Mucosa	stomach
2	chr2:183814600-183893600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:183833600-183878400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:183833600-183879600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr2:183846000-183902000	Weak transcription	Lung	lung
6	chr2:183854000-183898800	Weak transcription	Fetal Brain Male	brain
7	chr2:183859600-183882000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:183859600-183899400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:183862400-183894400	Weak transcription	Placenta	Placenta
10	chr2:183865400-183876600	Weak transcription	HMEC	breast
11	chr2:183866000-183878000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr2:183866000-183881400	Weak transcription	HUVEC	blood vessel
13	chr2:183866000-183881800	Weak transcription	Brain Germinal Matrix	brain
14	chr2:183866200-183881400	Weak transcription	Fetal Intestine Large	intestine
15	chr2:183866800-183881400	Weak transcription	Fetal Brain Female	brain
16	chr2:183866800-183881600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr2:183866800-183885400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr2:183866800-183889000	Weak transcription	Fetal Lung	lung
19	chr2:183866800-183889200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr2:183867000-183879000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr2:183867200-183881400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:183867800-183881800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr2:183867800-183889200	Weak transcription	Liver	Liver
24	chr2:183868200-183880800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:183868600-183877000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr2:183871000-183877000	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr2:183873000-183879800	Enhancers	Fetal Heart	heart
28	chr2:183873000-183881400	Weak transcription	Fetal Intestine Small	intestine
29	chr2:183874400-183877400	Enhancers	Muscle Satellite Cultured Cells	--
30	chr2:183874600-183881000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:183874800-183878200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:183875000-183890000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr2:183875200-183877000	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr2:183875200-183877000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:183875200-183877000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:183875200-183877000	Weak transcription	Ovary	ovary
37	chr2:183875200-183877400	Weak transcription	Psoas Muscle	Psoas
38	chr2:183875200-183877600	Weak transcription	Aorta	Aorta
39	chr2:183875200-183878000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr2:183875200-183878000	Weak transcription	Adipose Nuclei	Adipose
41	chr2:183875200-183878000	Weak transcription	Right Atrium	heart
42	chr2:183875200-183878200	Weak transcription	Rectal Smooth Muscle	rectum
43	chr2:183875200-183878400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:183875200-183878400	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr2:183875200-183878400	Weak transcription	Brain Substantia Nigra	brain
46	chr2:183875200-183878400	Weak transcription	Esophagus	oesophagus
47	chr2:183875200-183878400	Weak transcription	Gastric	stomach
48	chr2:183875200-183878400	Weak transcription	Left Ventricle	heart
49	chr2:183875200-183878400	Weak transcription	Right Ventricle	heart
50	chr2:183875200-183880200	Weak transcription	Small Intestine	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links