Variant report

Variant	rs7302199
Chromosome Location	chr12:117256358-117256359
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:117255787..117257433-chr12:117297351..117300001,2	K562	blood:
2	chr12:117255552..117257189-chr12:117266755..117268584,2	K562	blood:
3	chr12:117253820..117255367-chr12:117255716..117257267,2	K562	blood:
4	chr12:117242162..117243909-chr12:117254243..117257229,2	K562	blood:
5	chr12:117245789..117252962-chr12:117254340..117258603,11	K562	blood:
6	chr12:117255729..117257748-chr12:117292292..117294428,2	MCF-7	breast:
7	chr12:117249993..117252950-chr12:117255244..117258293,4	MCF-7	breast:
8	chr12:117255625..117260515-chr12:117260953..117265280,7	K562	blood:
9	chr12:117251777..117254967-chr12:117255465..117258181,5	MCF-7	breast:
10	chr12:117175650..117178418-chr12:117255455..117257271,2	MCF-7	breast:
11	chr12:117211331..117213827-chr12:117255904..117257677,2	MCF-7	breast:
12	chr12:117255053..117257426-chr12:117349302..117351380,2	K562	blood:
13	chr12:117256194..117258778-chr12:117314042..117315845,3	MCF-7	breast:
14	chr12:117255957..117259131-chr12:117261216..117264613,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000111412	Chromatin interaction
ENSG00000135119	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11068194	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11068195	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11068196	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068201	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16946996	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16947003	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17582582	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2016622	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4766805	0.81[ASN][1000 genomes]
rs56036824	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57033312	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58963573	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59935649	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61442995	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[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	nsv832523	chr12:117090343-117273810	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117228400-117256400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr12:117254200-117256600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:117254400-117256400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:117255600-117256600	Enhancers	Fetal Heart	heart
5	chr12:117255600-117256800	Flanking Active TSS	Thymus	Thymus
6	chr12:117255600-117257000	Flanking Active TSS	Fetal Thymus	thymus
7	chr12:117255800-117256400	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr12:117255800-117256400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr12:117255800-117257200	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr12:117255800-117257200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:117256000-117256400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:117256000-117256400	Enhancers	Primary T cells fromperipheralblood	blood
13	chr12:117256000-117256400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr12:117256000-117256400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr12:117256000-117256400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:117256000-117256400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:117256000-117256400	Enhancers	Stomach Mucosa	stomach
18	chr12:117256000-117256600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr12:117256000-117256800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
20	chr12:117256000-117256800	Flanking Active TSS	Brain Cingulate Gyrus	brain
21	chr12:117256000-117256800	Flanking Active TSS	K562	blood
22	chr12:117256000-117257000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr12:117256200-117256400	Active TSS	H1 Cell Line	embryonic stem cell
24	chr12:117256200-117256400	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr12:117256200-117256400	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr12:117256200-117256400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr12:117256200-117256400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr12:117256200-117256400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
29	chr12:117256200-117256400	Active TSS	Colonic Mucosa	Colon
30	chr12:117256200-117256400	Enhancers	Duodenum Mucosa	Duodenum
31	chr12:117256200-117256400	Enhancers	Fetal Intestine Large	intestine
32	chr12:117256200-117256400	Enhancers	Placenta	Placenta
33	chr12:117256200-117256400	Enhancers	Fetal Stomach	stomach
34	chr12:117256200-117256400	Flanking Active TSS	Right Atrium	heart
35	chr12:117256200-117256400	Enhancers	NH-A	brain
36	chr12:117256200-117256400	Enhancers	NHEK	skin
37	chr12:117256200-117256600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr12:117256200-117256600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr12:117256200-117256600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:117256200-117256600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:117256200-117256600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr12:117256200-117256600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr12:117256200-117256600	Flanking Active TSS	Brain Substantia Nigra	brain
44	chr12:117256200-117256600	Enhancers	Esophagus	oesophagus
45	chr12:117256200-117256600	Enhancers	Fetal Intestine Small	intestine
46	chr12:117256200-117256600	Enhancers	Gastric	stomach
47	chr12:117256200-117256600	Enhancers	Lung	lung
48	chr12:117256200-117256600	Enhancers	Pancreas	Pancrea
49	chr12:117256200-117256600	Enhancers	Placenta Amnion	Placenta Amnion
50	chr12:117256200-117256600	Enhancers	Sigmoid Colon	Sigmoid Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links