Variant report

Variant	rs7312325
Chromosome Location	chr12:11151171-11151172
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs2159901	1.00[AMR][1000 genomes]
rs2597954	1.00[AMR][1000 genomes]
rs2597986	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2708382	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2900551	1.00[AMR][1000 genomes]
rs3983357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3983358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4360778	1.00[AMR][1000 genomes]
rs4763583	1.00[AMR][1000 genomes]
rs4763584	1.00[AMR][1000 genomes]
rs6488339	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7139132	1.00[AMR][1000 genomes]
rs7139268	1.00[AMR][1000 genomes]
rs7301324	1.00[AMR][1000 genomes]
rs7312662	1.00[AMR][1000 genomes]
rs7979501	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758294	chr12:10969620-11714921	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
2	esv2759879	chr12:10969620-11714921	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
3	nsv1038277	chr12:11060978-11504091	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	nsv428272	chr12:11069845-11714921	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
5	nsv832330	chr12:11077678-11206957	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv898778	chr12:11108281-11165394	Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv898779	chr12:11134701-11174276	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv21271	chr12:11142157-11169458	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	esv8289	chr12:11144397-11222359	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv898780	chr12:11144994-11251560	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11114400-11180200	Weak transcription	Primary B cells from peripheral blood	blood
2	chr12:11122000-11170200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:11122200-11168000	Weak transcription	HUVEC	blood vessel
4	chr12:11129200-11167600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr12:11132000-11154800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:11134800-11166800	Weak transcription	NHDF-Ad	bronchial
7	chr12:11135200-11162200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:11136400-11180200	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr12:11136600-11153600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr12:11136600-11180200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr12:11136600-11196400	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr12:11137400-11203000	Weak transcription	Hela-S3	cervix
13	chr12:11140800-11152800	Weak transcription	Fetal Thymus	thymus
14	chr12:11142200-11151200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr12:11142200-11153400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr12:11143400-11151200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr12:11143400-11161000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:11143400-11167600	Weak transcription	Fetal Intestine Small	intestine
19	chr12:11143400-11178800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:11143600-11153200	Weak transcription	Primary B cells from cord blood	blood
21	chr12:11143600-11153600	Weak transcription	A549	lung
22	chr12:11143600-11161000	Weak transcription	Fetal Kidney	kidney
23	chr12:11145400-11177600	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr12:11146200-11167400	Weak transcription	Fetal Intestine Large	intestine
25	chr12:11147000-11151200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr12:11147000-11165200	Weak transcription	Esophagus	oesophagus
27	chr12:11147000-11166400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr12:11147000-11168400	Weak transcription	Liver	Liver
29	chr12:11147000-11178600	Weak transcription	Fetal Stomach	stomach
30	chr12:11147000-11185400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:11147200-11153200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr12:11147200-11153200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:11147200-11153200	Weak transcription	Adipose Nuclei	Adipose
34	chr12:11147200-11153200	Weak transcription	Fetal Lung	lung
35	chr12:11147200-11153200	Weak transcription	Fetal Muscle Leg	muscle
36	chr12:11147200-11153600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr12:11147200-11153600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr12:11147200-11154000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr12:11147200-11154400	Weak transcription	Gastric	stomach
40	chr12:11147200-11168600	Weak transcription	Spleen	Spleen
41	chr12:11147200-11169200	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr12:11147200-11171200	Weak transcription	Primary hematopoietic stem cells	blood
43	chr12:11147200-11176200	Weak transcription	Aorta	Aorta
44	chr12:11147200-11180400	Weak transcription	Pancreas	Pancrea
45	chr12:11148400-11178200	Weak transcription	Dnd41	blood
46	chr12:11148800-11151800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr12:11149000-11168600	Weak transcription	Left Ventricle	heart
48	chr12:11149600-11152400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:11150200-11153600	Weak transcription	Primary T cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links