Variant report

Variant	rs61941108
Chromosome Location	chr12:49237536-49237537
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1045340	0.94[ASN][1000 genomes]
rs1057908	0.97[ASN][1000 genomes]
rs10875879	0.96[ASN][1000 genomes]
rs10875880	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11168753	0.83[ASN][1000 genomes]
rs2453471	0.94[ASN][1000 genomes]
rs2453472	0.94[ASN][1000 genomes]
rs2453482	0.96[ASN][1000 genomes]
rs59128273	0.97[ASN][1000 genomes]
rs7164	0.93[ASN][1000 genomes]
rs954	0.91[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	nsv826363	chr12:49177227-49250989	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49215200-49243800	Strong transcription	Fetal Stomach	stomach
2	chr12:49215600-49240000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:49216200-49240200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:49216800-49238600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr12:49216800-49240000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:49216800-49240000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:49216800-49244600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:49217000-49243800	Strong transcription	Fetal Intestine Small	intestine
9	chr12:49217400-49241000	Strong transcription	Duodenum Smooth Muscle	Duodenum
10	chr12:49218200-49241200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:49220000-49239800	Strong transcription	Spleen	Spleen
12	chr12:49220000-49240000	Strong transcription	H1 Cell Line	embryonic stem cell
13	chr12:49220000-49241200	Strong transcription	Lung	lung
14	chr12:49221200-49243800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr12:49221800-49243200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr12:49222600-49244200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:49227000-49244600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr12:49230400-49244200	Weak transcription	Fetal Heart	heart
19	chr12:49232400-49237600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr12:49233400-49243600	Weak transcription	Stomach Mucosa	stomach
21	chr12:49233800-49237600	Weak transcription	Fetal Lung	lung
22	chr12:49234000-49237600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:49234000-49237600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr12:49234000-49237600	Weak transcription	Aorta	Aorta
25	chr12:49234000-49237600	Weak transcription	Brain Substantia Nigra	brain
26	chr12:49234000-49237600	Weak transcription	Colon Smooth Muscle	Colon
27	chr12:49234000-49237600	Weak transcription	Small Intestine	intestine
28	chr12:49234000-49237600	Weak transcription	K562	blood
29	chr12:49234000-49239400	Weak transcription	Fetal Brain Male	brain
30	chr12:49234000-49244000	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr12:49234000-49244200	Weak transcription	NHDF-Ad	bronchial
32	chr12:49234000-49244400	Weak transcription	Psoas Muscle	Psoas
33	chr12:49234200-49237600	Weak transcription	Primary T cells from cord blood	blood
34	chr12:49234200-49237600	Weak transcription	Primary hematopoietic stem cells	blood
35	chr12:49234200-49237600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr12:49234200-49237600	Weak transcription	Fetal Kidney	kidney
37	chr12:49234200-49237600	Weak transcription	Gastric	stomach
38	chr12:49234200-49237600	Weak transcription	Left Ventricle	heart
39	chr12:49234200-49237600	Weak transcription	Pancreas	Pancrea
40	chr12:49234200-49237600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr12:49234200-49237600	Weak transcription	HepG2	liver
42	chr12:49234200-49237600	Weak transcription	HMEC	breast
43	chr12:49234200-49237600	Weak transcription	NHLF	lung
44	chr12:49234200-49239200	Weak transcription	Esophagus	oesophagus
45	chr12:49234200-49244400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr12:49234400-49237600	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr12:49234600-49237600	Weak transcription	HUVEC	blood vessel
48	chr12:49234800-49237600	Weak transcription	Primary B cells from cord blood	blood
49	chr12:49234800-49237600	Weak transcription	Primary B cells from peripheral blood	blood
50	chr12:49234800-49237600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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