Variant report

Variant	rs2724658
Chromosome Location	chr12:11937151-11937152
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2723827	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2723828	0.87[EUR][1000 genomes]
rs2723830	0.81[ASN][1000 genomes]
rs2856327	0.85[ASN][1000 genomes]
rs3741429	0.87[EUR][1000 genomes]
rs3782140	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7967177	0.86[AMR][1000 genomes];0.88[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	nsv870039	chr12:11800363-11996598	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
2	nsv832331	chr12:11925095-12114451	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11915400-11938000	Weak transcription	NHEK	skin
2	chr12:11915600-11938000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:11920000-11937800	Weak transcription	NHLF	lung
4	chr12:11921800-11946600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr12:11922000-11948200	Weak transcription	Colonic Mucosa	Colon
6	chr12:11923600-11952000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr12:11925800-11938000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:11925800-11938000	Weak transcription	HMEC	breast
9	chr12:11927400-11937400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr12:11927400-11941400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr12:11927800-11946200	Weak transcription	Gastric	stomach
12	chr12:11928000-11946400	Weak transcription	Fetal Intestine Large	intestine
13	chr12:11928200-11938200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr12:11929000-11938200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr12:11929800-11946200	Weak transcription	HUVEC	blood vessel
16	chr12:11929800-11948600	Weak transcription	Primary B cells from cord blood	blood
17	chr12:11930000-11943200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:11930800-11938600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr12:11931200-11943800	Weak transcription	Ovary	ovary
20	chr12:11931200-11951600	Weak transcription	Primary T cells from cord blood	blood
21	chr12:11931400-11940800	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr12:11931400-11946200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr12:11931400-11951200	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr12:11931400-11951800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr12:11931600-11946200	Weak transcription	Lung	lung
26	chr12:11931600-11947200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr12:11931600-11950200	Weak transcription	Esophagus	oesophagus
28	chr12:11931800-11938400	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr12:11931800-11946400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr12:11932200-11937200	Weak transcription	Left Ventricle	heart
31	chr12:11932200-11938400	Weak transcription	Brain Hippocampus Middle	brain
32	chr12:11932200-11940400	Weak transcription	Small Intestine	intestine
33	chr12:11932400-11938200	Weak transcription	Brain Substantia Nigra	brain
34	chr12:11932400-11938600	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr12:11932400-11938600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr12:11932400-11946200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:11932600-11938000	Weak transcription	Brain Anterior Caudate	brain
38	chr12:11932600-11938000	Weak transcription	HSMMtube	muscle
39	chr12:11932600-11946600	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr12:11932800-11938400	Weak transcription	Adipose Nuclei	Adipose
41	chr12:11932800-11946200	Weak transcription	NH-A	brain
42	chr12:11932800-11946400	Weak transcription	Fetal Lung	lung
43	chr12:11933000-11938000	Weak transcription	Osteobl	bone
44	chr12:11933000-11938200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:11933000-11940600	Weak transcription	Fetal Stomach	stomach
46	chr12:11933200-11938800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr12:11933400-11938200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr12:11933600-11938000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:11933600-11938200	Weak transcription	Brain Angular Gyrus	brain
50	chr12:11933600-11941200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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