Variant report

Variant	rs56981632
Chromosome Location	chr12:122729600-122729601
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122708212..122711575-chr12:122728870..122731258,3	MCF-7	breast:
2	chr12:122724422..122726051-chr12:122727758..122730690,2	K562	blood:
3	chr12:122729544..122731593-chr12:122743294..122745902,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184047	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12579871	1.00[EUR][1000 genomes]
rs34996966	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35203505	0.80[AFR][1000 genomes]
rs35944862	1.00[EUR][1000 genomes]
rs55759231	1.00[EUR][1000 genomes]
rs55778375	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56038133	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56207858	1.00[EUR][1000 genomes]
rs56219573	1.00[EUR][1000 genomes]
rs56241657	1.00[EUR][1000 genomes]
rs58226649	1.00[EUR][1000 genomes]
rs59315366	1.00[EUR][1000 genomes]
rs59553747	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59743902	1.00[EUR][1000 genomes]
rs60258475	1.00[EUR][1000 genomes]
rs60317410	1.00[EUR][1000 genomes]
rs60623525	1.00[EUR][1000 genomes]
rs61096099	1.00[EUR][1000 genomes]
rs61954384	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6488916	1.00[EUR][1000 genomes]
rs6488917	1.00[EUR][1000 genomes]
rs71082959	1.00[EUR][1000 genomes]
rs7955389	1.00[EUR][1000 genomes]
rs7970522	1.00[EUR][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	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

No data

Chromatin state (count:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122711400-122734200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:122711800-122734400	Weak transcription	Stomach Mucosa	stomach
3	chr12:122711800-122734800	Weak transcription	Fetal Brain Male	brain
4	chr12:122711800-122749600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:122711800-122749600	Weak transcription	Psoas Muscle	Psoas
6	chr12:122712000-122730000	Strong transcription	Fetal Intestine Large	intestine
7	chr12:122712200-122730800	Strong transcription	Fetal Muscle Trunk	muscle
8	chr12:122712400-122748600	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr12:122713800-122730800	Strong transcription	Adipose Nuclei	Adipose
10	chr12:122713800-122731000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr12:122713800-122731000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:122713800-122748800	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr12:122714000-122729600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr12:122714200-122729800	Strong transcription	Fetal Intestine Small	intestine
15	chr12:122714400-122729600	Strong transcription	Thymus	Thymus
16	chr12:122715000-122730600	Strong transcription	Fetal Muscle Leg	muscle
17	chr12:122716000-122749600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr12:122716000-122750200	Weak transcription	Fetal Kidney	kidney
19	chr12:122717200-122750000	Weak transcription	Fetal Heart	heart
20	chr12:122719000-122745400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr12:122719600-122735000	Weak transcription	NHLF	lung
22	chr12:122720400-122734800	Weak transcription	NHEK	skin
23	chr12:122720600-122732200	Weak transcription	HUVEC	blood vessel
24	chr12:122720600-122732600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr12:122720600-122733000	Weak transcription	A549	lung
26	chr12:122720600-122734000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr12:122720600-122750000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr12:122720600-122750200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr12:122721600-122732600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr12:122721600-122750400	Weak transcription	Small Intestine	intestine
31	chr12:122722000-122732200	Weak transcription	HSMM	muscle
32	chr12:122722000-122732600	Weak transcription	Pancreas	Pancrea
33	chr12:122722000-122741000	Weak transcription	Brain Substantia Nigra	brain
34	chr12:122722000-122750200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:122722600-122734400	Weak transcription	Osteobl	bone
36	chr12:122723000-122735800	Strong transcription	Primary B cells from peripheral blood	blood
37	chr12:122723200-122730000	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr12:122723600-122734200	Weak transcription	NHDF-Ad	bronchial
39	chr12:122723800-122733200	Weak transcription	HMEC	breast
40	chr12:122723800-122734200	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr12:122724000-122734000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr12:122724600-122729600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr12:122724600-122732800	Weak transcription	HSMMtube	muscle
44	chr12:122725000-122729600	Strong transcription	Stomach Smooth Muscle	stomach
45	chr12:122725000-122729800	Strong transcription	Liver	Liver
46	chr12:122725200-122732600	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr12:122725600-122730400	Strong transcription	Brain Germinal Matrix	brain
48	chr12:122726000-122730400	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr12:122726400-122729800	Strong transcription	Primary B cells from cord blood	blood
50	chr12:122726600-122729800	Strong transcription	Brain Anterior Caudate	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links