Variant report

Variant	rs11052274
Chromosome Location	chr12:9816425-9816426
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:9810242..9813132-chr12:9813704..9817912,3	MCF-7	breast:
2	chr12:9798361..9803416-chr12:9813880..9817033,6	MCF-7	breast:
3	chr12:9799537..9802341-chr12:9814175..9817797,3	K562	blood:
4	chr12:9815292..9817127-chr12:9818651..9820715,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257027	Chromatin interaction
ENSG00000256594	Chromatin interaction
ENSG00000256442	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10772005	0.94[YRI][hapmap];0.83[AFR][1000 genomes]
rs10772006	0.94[YRI][hapmap];0.81[AFR][1000 genomes]
rs10844350	0.95[YRI][hapmap];0.83[AFR][1000 genomes]
rs10844351	0.95[YRI][hapmap];0.83[AFR][1000 genomes]
rs10844352	0.83[AFR][1000 genomes]
rs10844353	0.83[AFR][1000 genomes]
rs10844359	0.94[YRI][hapmap];0.83[AFR][1000 genomes]
rs10844369	0.84[AFR][1000 genomes]
rs11052245	0.83[AFR][1000 genomes]
rs11830731	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12310789	0.81[AFR][1000 genomes]
rs12322854	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1560009	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1560010	1.00[CEU][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16909916	0.91[EUR][1000 genomes]
rs16913477	0.94[YRI][hapmap];0.83[AFR][1000 genomes]
rs16914229	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16914557	0.96[EUR][1000 genomes]
rs2114869	0.95[YRI][hapmap];0.82[AFR][1000 genomes]
rs2162657	0.83[AFR][1000 genomes]
rs35280686	0.83[AFR][1000 genomes]
rs55873283	0.85[AFR][1000 genomes]
rs7132037	0.95[YRI][hapmap];0.80[AFR][1000 genomes]
rs7299738	0.83[AFR][1000 genomes]
rs7302746	0.95[YRI][hapmap];0.81[AFR][1000 genomes]
rs7304321	0.84[YRI][hapmap];0.83[AFR][1000 genomes]
rs7304464	0.94[YRI][hapmap];0.83[AFR][1000 genomes]
rs7305937	0.80[AFR][1000 genomes]
rs7309800	0.95[YRI][hapmap];0.81[AFR][1000 genomes]
rs7310405	0.83[AFR][1000 genomes]
rs7310516	0.83[AFR][1000 genomes]
rs7310568	0.94[YRI][hapmap];0.81[AFR][1000 genomes]
rs7310790	0.94[YRI][hapmap];0.83[AFR][1000 genomes]
rs7311421	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs7311574	0.94[YRI][hapmap];0.83[AFR][1000 genomes]
rs7311945	0.95[YRI][hapmap];0.83[AFR][1000 genomes]
rs7962321	0.94[YRI][hapmap]
rs7974871	0.94[YRI][hapmap];0.90[AFR][1000 genomes]
rs7975716	0.89[YRI][hapmap]
rs7978187	0.95[YRI][hapmap];0.90[AFR][1000 genomes]
rs9919714	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427903	chr12:9371593-9830668	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
2	esv2758293	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
3	esv2759878	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
4	esv1821732	chr12:9560087-9830668	Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	esv1823760	chr12:9560087-9830668	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv428271	chr12:9560087-9830668	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv917178	chr12:9637315-9820153	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9802400-9849800	Weak transcription	Pancreas	Pancrea
2	chr12:9803000-9816800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:9803000-9819800	Weak transcription	Fetal Brain Female	brain
4	chr12:9803000-9820200	Weak transcription	Brain Substantia Nigra	brain
5	chr12:9803000-9822200	Weak transcription	Small Intestine	intestine
6	chr12:9803600-9826200	Weak transcription	Esophagus	oesophagus
7	chr12:9804400-9820400	Weak transcription	HUVEC	blood vessel
8	chr12:9804600-9820000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:9804600-9820000	Weak transcription	HMEC	breast
10	chr12:9804600-9820200	Weak transcription	NHEK	skin
11	chr12:9805600-9819400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:9805800-9818200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:9806000-9818000	Strong transcription	Fetal Muscle Leg	muscle
14	chr12:9806200-9818200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:9806200-9818200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:9806200-9819000	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr12:9806200-9821600	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr12:9806400-9817200	Strong transcription	Dnd41	blood
19	chr12:9806600-9818000	Strong transcription	Placenta	Placenta
20	chr12:9806600-9818600	Strong transcription	Adipose Nuclei	Adipose
21	chr12:9806600-9818600	Strong transcription	Fetal Lung	lung
22	chr12:9807000-9818000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr12:9807000-9818200	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr12:9807000-9826000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr12:9807600-9847200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr12:9808000-9817800	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr12:9808000-9820000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr12:9808200-9818200	Genic enhancers	Primary T cells from cord blood	blood
29	chr12:9808400-9818200	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr12:9808600-9819200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
31	chr12:9808800-9819200	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr12:9809000-9816800	Weak transcription	Rectal Smooth Muscle	rectum
33	chr12:9810600-9817800	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr12:9810800-9817000	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr12:9811200-9818000	Strong transcription	Left Ventricle	heart
36	chr12:9812000-9818200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr12:9812000-9820400	Weak transcription	NHLF	lung
38	chr12:9812200-9817600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr12:9812800-9825800	Weak transcription	Right Ventricle	heart
40	chr12:9813000-9825800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr12:9813000-9826200	Weak transcription	Brain Anterior Caudate	brain
42	chr12:9813000-9826200	Weak transcription	Gastric	stomach
43	chr12:9813400-9818000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr12:9813600-9818600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr12:9813800-9826000	Weak transcription	NHDF-Ad	bronchial
46	chr12:9814000-9818000	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr12:9814000-9818800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr12:9814600-9817200	Strong transcription	Aorta	Aorta
49	chr12:9814600-9818200	Strong transcription	Primary hematopoietic stem cells	blood
50	chr12:9814600-9818200	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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