Variant report

Variant	rs7297289
Chromosome Location	chr12:57076487-57076488
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:57057109..57062087-chr12:57076163..57079993,5	MCF-7	breast:
2	chr12:57075341..57085478-chr12:57112447..57121011,58	MCF-7	breast:
3	chr12:57076071..57078890-chr12:57104142..57106874,2	K562	blood:
4	chr12:57076284..57078386-chr12:57143925..57146625,2	MCF-7	breast:
5	chr12:57074553..57077446-chr12:57112690..57116573,3	K562	blood:
6	chr12:57074578..57085543-chr12:57108746..57121559,55	K562	blood:
7	chr12:57035470..57039783-chr12:57074333..57078299,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000025423	Chromatin interaction
ENSG00000198056	Chromatin interaction
ENSG00000196531	Chromatin interaction
ENSG00000207031	Chromatin interaction
ENSG00000110955	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1020848	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10747769	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10783796	0.80[ASN][1000 genomes]
rs10876913	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10876914	0.92[ASN][1000 genomes]
rs10876915	0.92[ASN][1000 genomes]
rs10876916	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1107479	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11171914	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11171916	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11171917	0.92[ASN][1000 genomes]
rs11171951	0.80[ASN][1000 genomes]
rs11835120	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11837319	0.92[ASN][1000 genomes]
rs12229457	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1465081	0.92[ASN][1000 genomes]
rs1466382	0.80[ASN][1000 genomes]
rs1563896	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1563897	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1962963	0.81[ASN][1000 genomes]
rs2035081	0.80[ASN][1000 genomes]
rs2035082	0.80[ASN][1000 genomes]
rs2255074	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2290893	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2290894	0.80[ASN][1000 genomes]
rs2926740	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2926748	0.80[ASN][1000 genomes]
rs2950387	0.86[ASN][1000 genomes]
rs2950388	0.92[ASN][1000 genomes]
rs2950390	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2950393	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2950394	0.92[ASN][1000 genomes]
rs2958123	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2958124	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2958127	0.80[ASN][1000 genomes]
rs2958145	0.92[ASN][1000 genomes]
rs2958146	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2958153	0.99[ASN][1000 genomes]
rs2958154	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2958155	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36012661	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4759028	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4902	0.80[ASN][1000 genomes]
rs67046307	0.92[ASN][1000 genomes]
rs7303216	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7309526	0.84[ASN][1000 genomes]
rs7315472	0.92[ASN][1000 genomes]
rs73337030	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7957300	0.80[EUR][1000 genomes]
rs7972420	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7973157	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7975783	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7980378	0.94[ASN][1000 genomes]
rs7980835	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs898609	0.80[ASN][1000 genomes]
rs941207	0.87[ASN][1000 genomes]
rs9634246	0.92[ASN][1000 genomes]
rs9634247	0.90[ASN][1000 genomes]
rs9634277	0.90[ASN][1000 genomes]
rs9989034	0.88[EUR][1000 genomes];0.91[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	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers 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 miRNA target site	181 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	chr12:57052400-57078200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:57054800-57076600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:57055600-57077400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:57064800-57078000	Weak transcription	HSMMtube	muscle
5	chr12:57064800-57078600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr12:57065000-57077600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr12:57065000-57077800	Weak transcription	Stomach Mucosa	stomach
8	chr12:57065200-57078000	Weak transcription	Aorta	Aorta
9	chr12:57065200-57079800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:57065400-57077800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr12:57065800-57077800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr12:57066600-57077800	Weak transcription	Osteobl	bone
13	chr12:57066800-57077800	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr12:57067000-57077600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:57067000-57077800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr12:57067000-57077800	Weak transcription	Fetal Heart	heart
17	chr12:57067200-57077800	Weak transcription	Fetal Kidney	kidney
18	chr12:57067200-57077800	Weak transcription	HUVEC	blood vessel
19	chr12:57067200-57077800	Weak transcription	NHLF	lung
20	chr12:57068000-57077600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr12:57068200-57077800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:57068800-57077200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr12:57069000-57077200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr12:57069400-57077200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr12:57069600-57077000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:57070200-57077200	Strong transcription	Fetal Stomach	stomach
27	chr12:57071800-57077800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr12:57072400-57076800	Strong transcription	Thymus	Thymus
29	chr12:57072400-57077800	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr12:57072400-57077800	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr12:57072600-57076600	Genic enhancers	Primary B cells from peripheral blood	blood
32	chr12:57072600-57078000	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr12:57072800-57077000	Genic enhancers	Dnd41	blood
34	chr12:57073000-57077800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr12:57073000-57078000	Weak transcription	Brain Substantia Nigra	brain
36	chr12:57073000-57080200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr12:57073200-57077000	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr12:57073200-57077200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr12:57073600-57077200	Genic enhancers	Stomach Smooth Muscle	stomach
40	chr12:57073800-57077200	Strong transcription	Fetal Muscle Leg	muscle
41	chr12:57074200-57076800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr12:57074400-57078000	Weak transcription	Brain Germinal Matrix	brain
43	chr12:57074600-57076600	Genic enhancers	Lung	lung
44	chr12:57074600-57077000	Strong transcription	NHEK	skin
45	chr12:57074600-57077800	Enhancers	Adipose Nuclei	Adipose
46	chr12:57074800-57076800	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr12:57074800-57077000	Enhancers	Right Ventricle	heart
48	chr12:57074800-57077400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr12:57074800-57077400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr12:57074800-57077600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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