Variant report

Variant	rs55867175
Chromosome Location	chr2:173340209-173340210
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1001926	1.00[AFR][1000 genomes]
rs10187564	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10207640	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10207654	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10930559	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12052253	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12052385	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12053442	1.00[AFR][1000 genomes]
rs12613307	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12615584	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12615596	0.82[EUR][1000 genomes]
rs12621278	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12622724	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13410475	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13414928	0.82[EUR][1000 genomes]
rs1574256	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1574259	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16860397	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs16860419	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs16860426	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs16860438	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16860478	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16860513	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16860515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16860634	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16860643	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2008518	1.00[AFR][1000 genomes]
rs2178476	1.00[AFR][1000 genomes]
rs2272496	1.00[AFR][1000 genomes]
rs2293645	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2293647	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs2293648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3762618	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4405725	0.82[EUR][1000 genomes]
rs56882727	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57244773	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57404607	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57587465	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59374567	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59454075	0.85[EUR][1000 genomes]
rs59476799	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59970483	1.00[EUR][1000 genomes]
rs60096331	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6730284	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6741759	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6743174	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9636257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173321400-173356000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:173326400-173340400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:173327200-173353200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:173327400-173345000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:173327800-173370800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:173328800-173353400	Weak transcription	Right Ventricle	heart
7	chr2:173329400-173344400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:173329800-173371200	Weak transcription	Hela-S3	cervix
9	chr2:173330200-173342200	Weak transcription	Brain Substantia Nigra	brain
10	chr2:173330200-173345600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr2:173330200-173350400	Weak transcription	Primary B cells from cord blood	blood
12	chr2:173330400-173360400	Weak transcription	Small Intestine	intestine
13	chr2:173330600-173344600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:173330600-173344800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:173330600-173344800	Weak transcription	Adipose Nuclei	Adipose
16	chr2:173330600-173345000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr2:173330600-173345000	Weak transcription	NH-A	brain
18	chr2:173330600-173345200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:173330600-173345600	Weak transcription	Brain Hippocampus Middle	brain
20	chr2:173330600-173346400	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr2:173330600-173351400	Weak transcription	Psoas Muscle	Psoas
22	chr2:173330600-173351400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr2:173330600-173351600	Weak transcription	Brain Anterior Caudate	brain
24	chr2:173330600-173352400	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr2:173330600-173352600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr2:173330600-173352600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr2:173330600-173353200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr2:173330600-173353200	Weak transcription	Aorta	Aorta
29	chr2:173330600-173353400	Weak transcription	Fetal Stomach	stomach
30	chr2:173330600-173371400	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr2:173330600-173372200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr2:173330600-173373200	Strong transcription	NHEK	skin
33	chr2:173330600-173373400	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr2:173330600-173373400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:173330600-173373600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:173330600-173374200	Weak transcription	Stomach Mucosa	stomach
37	chr2:173330800-173345400	Weak transcription	NHLF	lung
38	chr2:173330800-173348200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr2:173331000-173341200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr2:173331000-173344800	Weak transcription	NHDF-Ad	bronchial
41	chr2:173331000-173346600	Weak transcription	Brain Cingulate Gyrus	brain
42	chr2:173331000-173348400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr2:173331000-173370000	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr2:173331000-173373200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr2:173331000-173373400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr2:173331000-173373800	Strong transcription	HMEC	breast
47	chr2:173331200-173372000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr2:173331400-173344800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr2:173331400-173370200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr2:173331600-173348800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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