Variant report

Variant	rs73281436
Chromosome Location	chr12:45684969-45684970
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr12:45683579-45685012	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:45679952..45682079-chr12:45684530..45686293,2	K562	blood:
2	chr12:45589220..45591342-chr12:45683683..45686226,2	K562	blood:

Variant related genes	Relation type
ANO6	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11182947	0.87[AFR][1000 genomes]
rs12815577	0.87[AFR][1000 genomes]
rs17095584	0.87[AFR][1000 genomes]
rs59569841	0.97[AFR][1000 genomes]
rs60840825	0.97[AFR][1000 genomes]
rs73275009	0.89[AFR][1000 genomes]
rs73275012	0.89[AFR][1000 genomes]
rs73279680	0.92[AFR][1000 genomes]
rs73279683	0.97[AFR][1000 genomes]
rs73281425	0.97[AFR][1000 genomes]
rs73281431	0.92[AFR][1000 genomes]
rs73281433	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281453	0.97[AFR][1000 genomes]
rs73281454	0.97[AFR][1000 genomes]
rs73283303	1.00[AMR][1000 genomes]
rs73293382	0.87[AFR][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	nsv1050923	chr12:45581310-45808289	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv690	chr12:45674127-45718859	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45654400-45725600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:45662800-45685400	Weak transcription	Primary B cells from peripheral blood	blood
3	chr12:45662800-45696800	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr12:45666200-45709200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr12:45668400-45697800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr12:45668600-45693000	Weak transcription	Pancreas	Pancrea
7	chr12:45674200-45706800	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr12:45674400-45692200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:45674600-45686400	Weak transcription	K562	blood
10	chr12:45675800-45709000	Weak transcription	Lung	lung
11	chr12:45676000-45686600	Weak transcription	Right Atrium	heart
12	chr12:45676200-45693000	Weak transcription	Fetal Stomach	stomach
13	chr12:45676400-45685600	Weak transcription	Primary B cells from cord blood	blood
14	chr12:45676400-45696000	Weak transcription	Fetal Thymus	thymus
15	chr12:45676400-45697800	Weak transcription	Dnd41	blood
16	chr12:45676400-45740400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr12:45677000-45689800	Weak transcription	Liver	Liver
18	chr12:45677000-45696000	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr12:45677600-45698200	Weak transcription	Primary T cells from cord blood	blood
20	chr12:45677800-45691800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr12:45677800-45696000	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr12:45678400-45686000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr12:45678400-45688000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:45678600-45686400	Weak transcription	Ovary	ovary
25	chr12:45678600-45691800	Weak transcription	HUVEC	blood vessel
26	chr12:45678800-45685600	Weak transcription	Adipose Nuclei	Adipose
27	chr12:45678800-45686400	Weak transcription	Fetal Lung	lung
28	chr12:45679200-45692200	Weak transcription	NHDF-Ad	bronchial
29	chr12:45679800-45685600	Weak transcription	Fetal Heart	heart
30	chr12:45679800-45686400	Weak transcription	Aorta	Aorta
31	chr12:45679800-45686400	Weak transcription	Left Ventricle	heart
32	chr12:45679800-45692200	Weak transcription	NH-A	brain
33	chr12:45680000-45736800	Weak transcription	Fetal Intestine Small	intestine
34	chr12:45680200-45692600	Weak transcription	Fetal Intestine Large	intestine
35	chr12:45680400-45697600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr12:45680800-45689400	Weak transcription	Placenta	Placenta
37	chr12:45680800-45693000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:45681000-45686200	Weak transcription	A549	lung
39	chr12:45681000-45698200	Weak transcription	Primary hematopoietic stem cells	blood
40	chr12:45681200-45697800	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr12:45683000-45685000	Enhancers	NHEK	skin
42	chr12:45683200-45685400	Enhancers	GM12878-XiMat	blood
43	chr12:45683400-45686000	Enhancers	Rectal Smooth Muscle	rectum
44	chr12:45683400-45687200	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr12:45683600-45685200	Enhancers	Placenta Amnion	Placenta Amnion
46	chr12:45683600-45685800	Enhancers	Colon Smooth Muscle	Colon
47	chr12:45683600-45685800	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr12:45683600-45709400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr12:45684000-45685600	Weak transcription	Stomach Smooth Muscle	stomach
50	chr12:45684000-45686200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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