Variant report

Variant	rs9634247
Chromosome Location	chr12:57034840-57034841
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:57034505-57035169	GM12878	blood:	n/a	n/a
2	POLR2A	chr12:57034180-57035112	PFSK-1	brain:	n/a	n/a
3	POLR2A	chr12:57034477-57035177	K562	blood:	n/a	n/a
4	POLR2A	chr12:57034570-57035047	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:57033589..57036096-chr12:57478215..57479936,2	MCF-7	breast:
2	chr12:57027023..57035553-chr12:57079936..57085201,18	MCF-7	breast:

Variant related genes	Relation type
ATP5B	TF binding region
BAZ2A	TF binding region
ENSG00000110958	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1020848	0.97[ASN][1000 genomes]
rs10747769	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10783794	0.80[ASN][1000 genomes]
rs10876913	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10876914	0.97[ASN][1000 genomes]
rs10876915	0.97[ASN][1000 genomes]
rs10876916	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1107479	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11171914	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11171916	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11171917	0.97[ASN][1000 genomes]
rs11835120	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11837319	0.97[ASN][1000 genomes]
rs12229457	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1465081	0.97[ASN][1000 genomes]
rs1563896	0.83[ASN][1000 genomes]
rs1563897	0.83[ASN][1000 genomes]
rs1962963	0.85[ASN][1000 genomes]
rs2255074	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2290893	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2926740	0.97[ASN][1000 genomes]
rs2950387	0.91[ASN][1000 genomes]
rs2950388	0.97[ASN][1000 genomes]
rs2950390	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2950393	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2950394	0.97[ASN][1000 genomes]
rs2958123	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2958124	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2958145	0.97[ASN][1000 genomes]
rs2958146	0.97[ASN][1000 genomes]
rs2958153	0.89[ASN][1000 genomes]
rs2958154	0.97[ASN][1000 genomes]
rs2958155	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36012661	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4759028	0.88[ASN][1000 genomes]
rs67046307	0.97[ASN][1000 genomes]
rs7297289	0.90[ASN][1000 genomes]
rs7303216	0.90[ASN][1000 genomes]
rs7315472	0.97[ASN][1000 genomes]
rs73337030	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7972420	0.93[ASN][1000 genomes]
rs7973157	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7975783	0.91[ASN][1000 genomes]
rs7980378	0.91[ASN][1000 genomes]
rs7980835	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs941207	0.92[ASN][1000 genomes]
rs9634246	0.97[ASN][1000 genomes]
rs9634277	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9989034	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57030400-57038600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:57030600-57035400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:57030600-57036800	Weak transcription	Right Atrium	heart
4	chr12:57030800-57037200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:57031200-57035600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:57031200-57036400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr12:57031400-57035200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr12:57031400-57035200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr12:57031400-57036200	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr12:57031400-57037200	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr12:57031400-57037200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
12	chr12:57031400-57037200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr12:57031400-57037200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr12:57031400-57037200	Strong transcription	Thymus	Thymus
15	chr12:57031400-57037200	Strong transcription	NH-A	brain
16	chr12:57031400-57037400	Strong transcription	Brain Germinal Matrix	brain
17	chr12:57031400-57037600	Strong transcription	HSMM	muscle
18	chr12:57031400-57037600	Strong transcription	Osteobl	bone
19	chr12:57031400-57038200	Strong transcription	HSMMtube	muscle
20	chr12:57031400-57038400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:57031400-57038400	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr12:57031400-57038400	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr12:57031600-57035400	Strong transcription	Duodenum Mucosa	Duodenum
24	chr12:57031600-57035400	Strong transcription	Left Ventricle	heart
25	chr12:57031600-57036000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr12:57031600-57036000	Strong transcription	Esophagus	oesophagus
27	chr12:57031600-57036400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr12:57031600-57036400	Strong transcription	Dnd41	blood
29	chr12:57031600-57036400	Strong transcription	HUVEC	blood vessel
30	chr12:57031600-57036600	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr12:57031600-57037200	Strong transcription	Primary T cells from cord blood	blood
32	chr12:57031600-57037200	Strong transcription	Muscle Satellite Cultured Cells	--
33	chr12:57031600-57037200	Strong transcription	Brain Anterior Caudate	brain
34	chr12:57031600-57037200	Strong transcription	Brain Hippocampus Middle	brain
35	chr12:57031600-57037200	Strong transcription	Brain Inferior Temporal Lobe	brain
36	chr12:57031600-57037200	Strong transcription	Colonic Mucosa	Colon
37	chr12:57031600-57037200	Strong transcription	Fetal Brain Female	brain
38	chr12:57031600-57037400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr12:57031600-57037400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr12:57031600-57037600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr12:57031600-57037600	Strong transcription	Fetal Lung	lung
42	chr12:57031600-57037800	Strong transcription	H9 Cell Line	embryonic stem cell
43	chr12:57031600-57037800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr12:57031600-57038000	Strong transcription	Fetal Muscle Trunk	muscle
45	chr12:57031600-57038000	Strong transcription	Fetal Stomach	stomach
46	chr12:57031600-57038200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr12:57031600-57038400	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr12:57031600-57038400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr12:57031600-57038400	Strong transcription	Lung	lung
50	chr12:57031800-57035000	Strong transcription	Colon Smooth Muscle	Colon

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