Variant report

Variant	rs2240314
Chromosome Location	chr12:120567897-120567898
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:120566586..120568183-chr12:120598952..120600865,2	K562	blood:
2	chr12:120567517..120569604-chr12:120728003..120731600,3	MCF-7	breast:
3	chr12:120567390..120569077-chr12:120569460..120570984,2	MCF-7	breast:
4	chr12:120565499..120568763-chr12:120630568..120633356,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000089154	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000200795	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11065028	0.86[ASN][1000 genomes]
rs11065035	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11833158	0.80[EUR][1000 genomes]
rs12305184	0.81[EUR][1000 genomes]
rs12306075	0.81[EUR][1000 genomes]
rs12310433	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12312562	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12578300	0.83[ASN][1000 genomes]
rs2074540	0.80[EUR][1000 genomes]
rs2240315	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2240317	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2240318	0.87[EUR][1000 genomes]
rs2240319	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2240320	0.86[EUR][1000 genomes]
rs2240321	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2240322	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2240323	0.86[EUR][1000 genomes]
rs2240325	0.80[EUR][1000 genomes]
rs2269940	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2269941	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2269943	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2269944	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2269945	0.80[EUR][1000 genomes]
rs2286043	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2286044	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2286045	0.87[EUR][1000 genomes]
rs2286049	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2286050	0.81[EUR][1000 genomes]
rs3815210	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59601514	0.83[EUR][1000 genomes]
rs60271600	0.80[EUR][1000 genomes]
rs7133235	0.81[EUR][1000 genomes]
rs7134706	0.80[EUR][1000 genomes]
rs7135914	0.81[EUR][1000 genomes]
rs7299429	0.80[EUR][1000 genomes]
rs7301660	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7978061	0.80[EUR][1000 genomes]
rs9630281	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3525916	chr12:120345352-120665045	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	esv3525917	chr12:120345352-120665045	Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
3	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases
4	nsv519657	chr12:120533696-120676090	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
5	nsv560433	chr12:120533696-120676090	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120556800-120571800	Weak transcription	Fetal Brain Male	brain
2	chr12:120556800-120578200	Weak transcription	Fetal Heart	heart
3	chr12:120563000-120568600	Strong transcription	Gastric	stomach
4	chr12:120563000-120580200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:120563000-120580200	Strong transcription	A549	lung
6	chr12:120563000-120588000	Strong transcription	HSMM	muscle
7	chr12:120563000-120596800	Strong transcription	Stomach Smooth Muscle	stomach
8	chr12:120563000-120605600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:120563000-120629800	Strong transcription	Fetal Stomach	stomach
10	chr12:120563000-120630200	Strong transcription	Fetal Muscle Leg	muscle
11	chr12:120563200-120602800	Strong transcription	Brain Germinal Matrix	brain
12	chr12:120563200-120630400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:120563400-120570400	Strong transcription	Fetal Intestine Large	intestine
14	chr12:120563400-120616200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:120563400-120629200	Strong transcription	Fetal Intestine Small	intestine
16	chr12:120563400-120630200	Strong transcription	Fetal Thymus	thymus
17	chr12:120563600-120574600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:120563600-120580400	Strong transcription	Pancreas	Pancrea
19	chr12:120563600-120583600	Strong transcription	Fetal Brain Female	brain
20	chr12:120563600-120596400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:120563600-120602400	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr12:120563600-120603600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:120563600-120603800	Strong transcription	Sigmoid Colon	Sigmoid Colon
24	chr12:120563600-120605600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:120563600-120626000	Strong transcription	Brain Cingulate Gyrus	brain
26	chr12:120563600-120626200	Strong transcription	Placenta Amnion	Placenta Amnion
27	chr12:120563600-120629000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr12:120563600-120630200	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr12:120563600-120630200	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr12:120563600-120630200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr12:120563600-120630200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:120563600-120630200	Strong transcription	Fetal Muscle Trunk	muscle
33	chr12:120563800-120581000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr12:120563800-120582600	Strong transcription	Liver	Liver
35	chr12:120563800-120602600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr12:120563800-120602600	Strong transcription	Primary T cells from cord blood	blood
37	chr12:120563800-120602600	Strong transcription	Brain Inferior Temporal Lobe	brain
38	chr12:120563800-120602800	Strong transcription	Dnd41	blood
39	chr12:120563800-120603600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr12:120563800-120629800	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr12:120563800-120630000	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr12:120563800-120630200	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr12:120564000-120568600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr12:120564000-120569600	Strong transcription	GM12878-XiMat	blood
45	chr12:120564000-120580800	Strong transcription	HMEC	breast
46	chr12:120564000-120581200	Strong transcription	NHEK	skin
47	chr12:120564000-120583400	Strong transcription	Hela-S3	cervix
48	chr12:120564000-120603600	Strong transcription	Brain Angular Gyrus	brain
49	chr12:120564000-120603800	Strong transcription	Thymus	Thymus
50	chr12:120564200-120594200	Strong transcription	Primary T cells fromperipheralblood	blood

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