Variant report

Variant	rs12474977
Chromosome Location	chr2:37323460-37323461
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:37318207..37320295-chr2:37323063..37325034,2	K562	blood:
2	chr2:37319900..37322876-chr2:37323309..37325791,3	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10084315	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs10176233	0.95[EUR][1000 genomes]
rs10186611	1.00[CEU][hapmap]
rs10191403	1.00[YRI][hapmap]
rs10194972	1.00[YRI][hapmap]
rs10202693	1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10211667	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12464180	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs12465097	0.95[EUR][1000 genomes]
rs12466249	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs12469391	0.95[EUR][1000 genomes]
rs12470942	1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12475211	0.83[EUR][1000 genomes]
rs13382546	0.83[EUR][1000 genomes]
rs13398178	1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13398187	1.00[YRI][hapmap]
rs13399537	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13424255	1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13425123	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[EUR][1000 genomes]
rs13425169	1.00[CEU][hapmap];0.91[AMR][1000 genomes]
rs13426400	1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13430716	1.00[CEU][hapmap]
rs2307469	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4648182	1.00[TSI][hapmap]
rs4648185	1.00[CEU][hapmap];0.91[AMR][1000 genomes]
rs4648233	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9309000	0.83[EUR][1000 genomes]
rs9631047	1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37312200-37332800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:37312200-37346000	Weak transcription	Pancreas	Pancrea
3	chr2:37312200-37383200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:37312400-37332600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:37312400-37332600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr2:37312600-37329200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr2:37312600-37332200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr2:37312600-37332600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr2:37313000-37325600	Weak transcription	Fetal Heart	heart
10	chr2:37313200-37346000	Weak transcription	Stomach Mucosa	stomach
11	chr2:37313400-37328000	Weak transcription	Hela-S3	cervix
12	chr2:37313400-37330800	Weak transcription	NHEK	skin
13	chr2:37313400-37361800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr2:37314000-37324400	Strong transcription	Fetal Muscle Trunk	muscle
15	chr2:37314200-37329200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr2:37314200-37331200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr2:37314400-37329400	Strong transcription	Fetal Thymus	thymus
18	chr2:37314400-37330600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:37314400-37347000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:37314600-37346800	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr2:37314800-37325200	Strong transcription	Osteobl	bone
22	chr2:37314800-37331200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:37315000-37338200	Strong transcription	Primary T cells from cord blood	blood
24	chr2:37315200-37329000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr2:37315200-37329200	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr2:37315600-37324600	Strong transcription	Brain Germinal Matrix	brain
27	chr2:37315600-37337800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:37315600-37367000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:37315800-37326000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:37315800-37328800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:37315800-37341200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr2:37315800-37341400	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr2:37316000-37323600	Strong transcription	Adipose Nuclei	Adipose
34	chr2:37316000-37324800	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr2:37316000-37331000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr2:37316600-37330400	Strong transcription	Liver	Liver
37	chr2:37316800-37324400	Strong transcription	Primary hematopoietic stem cells	blood
38	chr2:37316800-37330200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:37317000-37324200	Strong transcription	HUVEC	blood vessel
40	chr2:37317400-37327200	Weak transcription	Esophagus	oesophagus
41	chr2:37317400-37334200	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr2:37317600-37323800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:37317600-37326200	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr2:37317600-37327800	Weak transcription	Brain Cingulate Gyrus	brain
45	chr2:37318200-37325600	Weak transcription	HMEC	breast
46	chr2:37319000-37324000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr2:37319000-37325000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr2:37319000-37327000	Strong transcription	NH-A	brain
49	chr2:37319000-37330000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:37319000-37330000	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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