Variant report

Variant	rs57937070
Chromosome Location	chr12:51586604-51586605
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51582618..51587161-chr12:51588342..51592612,4	K562	blood:
2	chr12:51581106..51583160-chr12:51585274..51587538,3	K562	blood:
3	chr12:51581274..51584144-chr12:51584768..51587377,2	K562	blood:
4	chr12:51442216..51443932-chr12:51585911..51587883,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184271	Chromatin interaction
ENSG00000050426	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12422846	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12423352	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12427003	0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs57821022	0.86[ASN][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	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51567400-51610600	Weak transcription	Right Atrium	heart
2	chr12:51578000-51587600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr12:51578200-51596800	Weak transcription	Fetal Lung	lung
4	chr12:51580400-51592000	Weak transcription	Gastric	stomach
5	chr12:51580600-51587800	Weak transcription	Placenta	Placenta
6	chr12:51580600-51595800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr12:51580800-51596800	Weak transcription	Primary T cells from cord blood	blood
8	chr12:51581000-51593200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr12:51581400-51600400	Weak transcription	Psoas Muscle	Psoas
10	chr12:51581400-51610200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:51581600-51587200	Strong transcription	Fetal Brain Female	brain
12	chr12:51581800-51592000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:51581800-51596600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:51581800-51610600	Weak transcription	Colonic Mucosa	Colon
15	chr12:51582000-51592600	Weak transcription	Fetal Intestine Large	intestine
16	chr12:51582000-51597000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr12:51582200-51587400	Strong transcription	Brain Germinal Matrix	brain
18	chr12:51582200-51593000	Strong transcription	Brain Hippocampus Middle	brain
19	chr12:51582200-51594000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr12:51582200-51608000	Weak transcription	NHLF	lung
21	chr12:51582400-51587000	Strong transcription	Brain Substantia Nigra	brain
22	chr12:51582400-51593000	Weak transcription	Duodenum Mucosa	Duodenum
23	chr12:51582400-51594800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr12:51582400-51600000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr12:51582400-51600600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr12:51582600-51587200	Strong transcription	Stomach Smooth Muscle	stomach
27	chr12:51582600-51590600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr12:51583000-51587000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr12:51583000-51587200	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr12:51583400-51587000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr12:51583400-51587000	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr12:51583400-51587000	Strong transcription	Brain Inferior Temporal Lobe	brain
33	chr12:51583400-51587000	Strong transcription	Colon Smooth Muscle	Colon
34	chr12:51583400-51587200	Strong transcription	Ovary	ovary
35	chr12:51583400-51594200	Strong transcription	Fetal Stomach	stomach
36	chr12:51583400-51602400	Weak transcription	Fetal Brain Male	brain
37	chr12:51583600-51587000	Strong transcription	Brain Angular Gyrus	brain
38	chr12:51583600-51591800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr12:51583600-51598400	Weak transcription	Osteobl	bone
40	chr12:51584000-51589400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr12:51584000-51597000	Weak transcription	Left Ventricle	heart
42	chr12:51584200-51591400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr12:51584200-51591600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr12:51584400-51587000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr12:51584400-51610800	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr12:51584600-51594600	Strong transcription	Fetal Muscle Leg	muscle
47	chr12:51584600-51596600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr12:51585000-51610200	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr12:51585000-51610800	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr12:51585400-51591200	Weak transcription	Pancreas	Pancrea

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