Variant report

Variant	rs73217776
Chromosome Location	chr12:122591531-122591532
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122586163..122588712-chr12:122590906..122593139,2	MCF-7	breast:
2	chr12:122514483..122517104-chr12:122591437..122592941,2	K562	blood:
3	chr12:122591520..122593540-chr12:122594262..122596190,2	K562	blood:
4	chr12:122521372..122523927-chr12:122590868..122592602,3	K562	blood:
5	chr12:122513747..122517673-chr12:122588756..122592941,4	K562	blood:
6	chr12:122516801..122519541-chr12:122589557..122592408,2	MCF-7	breast:
7	chr12:122583443..122586737-chr12:122588161..122591789,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000175727	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10840630	1.00[ASN][1000 genomes]
rs10840631	1.00[ASN][1000 genomes]
rs10840632	1.00[ASN][1000 genomes]
rs10840633	1.00[ASN][1000 genomes]
rs11043233	1.00[ASN][1000 genomes]
rs11043244	1.00[ASN][1000 genomes]
rs11043246	1.00[ASN][1000 genomes]
rs11043251	1.00[ASN][1000 genomes]
rs11043271	1.00[ASN][1000 genomes]
rs11043278	1.00[ASN][1000 genomes]
rs11043280	1.00[ASN][1000 genomes]
rs11043288	1.00[ASN][1000 genomes]
rs1154514	1.00[ASN][1000 genomes]
rs11612028	1.00[ASN][1000 genomes]
rs1169070	1.00[ASN][1000 genomes]
rs1169071	1.00[ASN][1000 genomes]
rs12369331	1.00[ASN][1000 genomes]
rs12809676	1.00[ASN][1000 genomes]
rs12822369	1.00[ASN][1000 genomes]
rs12824593	1.00[ASN][1000 genomes]
rs1720033	1.00[ASN][1000 genomes]
rs1720037	1.00[ASN][1000 genomes]
rs34159444	1.00[ASN][1000 genomes]
rs34906460	1.00[ASN][1000 genomes]
rs36124217	1.00[ASN][1000 genomes]
rs66751701	1.00[ASN][1000 genomes]
rs7132055	1.00[ASN][1000 genomes]
rs73219902	1.00[ASN][1000 genomes]
rs9739381	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899569	chr12:122478728-122630909	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv527450	chr12:122481290-122676531	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122583200-122612200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:122583400-122591600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr12:122583800-122607600	Weak transcription	Fetal Brain Female	brain
4	chr12:122584000-122591800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:122584200-122622000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:122584600-122592400	Weak transcription	Hela-S3	cervix
7	chr12:122584800-122601200	Weak transcription	Dnd41	blood
8	chr12:122585000-122595800	Weak transcription	Fetal Kidney	kidney
9	chr12:122585400-122592600	Weak transcription	GM12878-XiMat	blood
10	chr12:122585400-122601400	Weak transcription	Brain Germinal Matrix	brain
11	chr12:122587400-122598600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:122588400-122591600	Enhancers	Fetal Muscle Leg	muscle
13	chr12:122588400-122593400	Enhancers	Colon Smooth Muscle	Colon
14	chr12:122588400-122593400	Enhancers	Rectal Smooth Muscle	rectum
15	chr12:122588400-122594800	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr12:122588400-122594800	Genic enhancers	K562	blood
17	chr12:122588400-122595400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr12:122588400-122596800	Enhancers	Primary T cells fromperipheralblood	blood
19	chr12:122588800-122593000	Enhancers	Fetal Thymus	thymus
20	chr12:122588800-122594800	Genic enhancers	Fetal Intestine Small	intestine
21	chr12:122588800-122595400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr12:122589000-122593800	Enhancers	Stomach Mucosa	stomach
23	chr12:122589200-122593400	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr12:122589200-122594600	Enhancers	Left Ventricle	heart
25	chr12:122589200-122594800	Enhancers	Colonic Mucosa	Colon
26	chr12:122589400-122592200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr12:122589400-122592400	Genic enhancers	Fetal Stomach	stomach
28	chr12:122589600-122593400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr12:122589800-122591600	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr12:122589800-122592800	Weak transcription	HUVEC	blood vessel
31	chr12:122589800-122594600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr12:122590000-122594200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr12:122590200-122591800	Enhancers	Brain Substantia Nigra	brain
34	chr12:122590200-122592400	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr12:122590200-122594800	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr12:122590400-122591800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:122590400-122591800	Genic enhancers	Pancreas	Pancrea
38	chr12:122590400-122591800	Genic enhancers	Spleen	Spleen
39	chr12:122590400-122592000	Enhancers	Fetal Lung	lung
40	chr12:122590400-122592200	Enhancers	Brain Hippocampus Middle	brain
41	chr12:122590400-122592400	Enhancers	Brain Angular Gyrus	brain
42	chr12:122590400-122592400	Enhancers	Brain Cingulate Gyrus	brain
43	chr12:122590400-122592400	Enhancers	Right Atrium	heart
44	chr12:122590400-122592600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr12:122590400-122592800	Enhancers	Lung	lung
46	chr12:122590400-122593000	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr12:122590400-122593000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr12:122590400-122593400	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr12:122590400-122594400	Enhancers	Small Intestine	intestine
50	chr12:122590400-122594400	Enhancers	A549	lung

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