Variant report

Variant	rs10747769
Chromosome Location	chr12:57070840-57070841
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:57065480..57067011-chr12:57068619..57070888,2	K562	blood:
2	chr12:57057875..57064396-chr12:57067862..57074098,12	K562	blood:
3	chr12:57068994..57071016-chr12:57119059..57120926,2	MCF-7	breast:
4	chr12:57067309..57072885-chr12:57076964..57083697,11	K562	blood:

Variant related genes	Relation type
ENSG00000110958	Chromatin interaction
ENSG00000196531	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs1020848	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1026565	0.81[EUR][1000 genomes]
rs10783796	0.83[EUR][1000 genomes]
rs10876913	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10876914	0.94[ASN][1000 genomes]
rs10876915	0.94[ASN][1000 genomes]
rs10876916	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1107479	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11171914	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11171916	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11171917	0.94[ASN][1000 genomes]
rs11171951	0.82[EUR][1000 genomes]
rs11171956	0.83[EUR][1000 genomes]
rs1131514	0.81[EUR][1000 genomes]
rs11835120	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11837319	0.94[ASN][1000 genomes]
rs12229457	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12828563	0.84[EUR][1000 genomes]
rs1465081	0.94[ASN][1000 genomes]
rs1466382	0.83[EUR][1000 genomes]
rs1563896	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1563897	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1962963	0.82[ASN][1000 genomes]
rs1975875	0.81[EUR][1000 genomes]
rs2035081	0.82[EUR][1000 genomes]
rs2035082	0.82[EUR][1000 genomes]
rs2255074	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2290893	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2290894	0.83[EUR][1000 genomes]
rs2926740	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2926741	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2926747	0.83[EUR][1000 genomes]
rs2926748	0.83[EUR][1000 genomes]
rs2950387	0.88[ASN][1000 genomes]
rs2950388	0.94[ASN][1000 genomes]
rs2950390	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2950393	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2950394	0.94[ASN][1000 genomes]
rs2958123	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2958124	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2958127	0.83[EUR][1000 genomes]
rs2958145	0.94[ASN][1000 genomes]
rs2958146	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2958148	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2958153	0.93[ASN][1000 genomes]
rs2958154	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2958155	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3214051	0.82[EUR][1000 genomes]
rs36012661	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4759028	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4902	0.83[EUR][1000 genomes]
rs67046307	0.94[ASN][1000 genomes]
rs7297289	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7303216	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7315472	0.94[ASN][1000 genomes]
rs73337030	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7957300	0.87[EUR][1000 genomes]
rs7966391	0.81[EUR][1000 genomes]
rs7972420	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7973157	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7975783	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7980378	0.96[ASN][1000 genomes]
rs7980835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs898609	0.83[EUR][1000 genomes]
rs941207	0.89[ASN][1000 genomes]
rs9634246	0.94[ASN][1000 genomes]
rs9634247	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9634277	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9989034	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[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	chr12:57054800-57075800	Strong transcription	Fetal Thymus	thymus
3	chr12:57054800-57076600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:57055600-57077400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:57061400-57075000	Genic enhancers	A549	lung
6	chr12:57064800-57078000	Weak transcription	HSMMtube	muscle
7	chr12:57064800-57078600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr12:57065000-57072400	Weak transcription	Brain Angular Gyrus	brain
9	chr12:57065000-57072600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:57065000-57077600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr12:57065000-57077800	Weak transcription	Stomach Mucosa	stomach
12	chr12:57065200-57072400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:57065200-57072600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:57065200-57072600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr12:57065200-57072600	Weak transcription	Esophagus	oesophagus
16	chr12:57065200-57072600	Weak transcription	Lung	lung
17	chr12:57065200-57074000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:57065200-57074000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr12:57065200-57074000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr12:57065200-57078000	Weak transcription	Aorta	Aorta
21	chr12:57065200-57079800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:57065400-57072000	Weak transcription	Colonic Mucosa	Colon
23	chr12:57065400-57073600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr12:57065400-57077800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr12:57065800-57072600	Weak transcription	Brain Substantia Nigra	brain
26	chr12:57065800-57077800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr12:57066200-57072600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr12:57066200-57072600	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr12:57066200-57075600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr12:57066400-57072000	Weak transcription	Brain Hippocampus Middle	brain
31	chr12:57066400-57072600	Weak transcription	Brain Anterior Caudate	brain
32	chr12:57066400-57073000	Weak transcription	Primary hematopoietic stem cells	blood
33	chr12:57066400-57073800	Weak transcription	Fetal Brain Female	brain
34	chr12:57066400-57074000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr12:57066400-57074200	Weak transcription	NHDF-Ad	bronchial
36	chr12:57066600-57072400	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr12:57066600-57073600	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr12:57066600-57073800	Weak transcription	Brain Germinal Matrix	brain
39	chr12:57066600-57077800	Weak transcription	Osteobl	bone
40	chr12:57066800-57072800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:57066800-57077800	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr12:57067000-57071400	Weak transcription	Fetal Intestine Large	intestine
43	chr12:57067000-57071600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr12:57067000-57072400	Weak transcription	Hela-S3	cervix
45	chr12:57067000-57072600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr12:57067000-57072600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr12:57067000-57074600	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr12:57067000-57077600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:57067000-57077800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr12:57067000-57077800	Weak transcription	Fetal Heart	heart

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