Variant report

Variant	rs1800638
Chromosome Location	chr12:57033326-57033327
allele	C/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	chr12:57032742-57034150	GM12878	blood:	n/a	n/a
2	POLR2A	chr12:57032813-57034202	K562	blood:	n/a	n/a
3	POLR2A	chr12:57032764-57034619	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr12:57032461-57034135	PFSK-1	brain:	n/a	n/a
5	POLR2A	chr12:57033323-57033336	MCF-7	breast:	n/a	n/a
6	POLR2A	chr12:57032745-57033348	GM12878	blood:	n/a	n/a
7	POLR2A	chr12:57032813-57033329	GM12892	blood:	n/a	n/a
8	POLR2A	chr12:57033058-57034318	HepG2	liver:	n/a	n/a
9	POLR2A	chr12:57032767-57033347	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:57027023..57035553-chr12:57079936..57085201,18	MCF-7	breast:
2	chr12:57028651..57034442-chr12:57080412..57084452,17	K562	blood:

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

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10876912	0.84[EUR][1000 genomes]
rs11171909	0.84[EUR][1000 genomes]
rs11171910	0.84[EUR][1000 genomes]
rs11829496	0.82[EUR][1000 genomes]
rs11831054	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11838315	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12312913	0.84[EUR][1000 genomes]
rs12314491	0.84[EUR][1000 genomes]
rs12321649	0.84[EUR][1000 genomes]
rs1527140	0.84[EUR][1000 genomes]
rs17118865	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17118901	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17118921	0.82[EUR][1000 genomes]
rs17444925	0.91[EUR][1000 genomes]
rs17541679	0.91[EUR][1000 genomes]
rs4262757	0.82[EUR][1000 genomes]
rs55962252	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs57406430	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59711560	0.84[EUR][1000 genomes]
rs60574031	0.82[EUR][1000 genomes]
rs7136370	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7307573	0.82[EUR][1000 genomes]
rs7307578	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74091637	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74095026	1.00[EUR][1000 genomes]
rs7954160	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7956952	0.91[EUR][1000 genomes]
rs7958515	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7974103	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7974600	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7977632	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs941210	0.84[EUR][1000 genomes]
rs9738534	0.82[AMR][1000 genomes];0.84[EUR][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	chr12:57031000-57034600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
6	chr12:57031200-57034400	Genic enhancers	Fetal Heart	heart
7	chr12:57031200-57034600	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr12:57031200-57035600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:57031200-57036400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:57031400-57034600	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr12:57031400-57035200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr12:57031400-57035200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr12:57031400-57036200	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr12:57031400-57037200	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr12:57031400-57037200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
16	chr12:57031400-57037200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr12:57031400-57037200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr12:57031400-57037200	Strong transcription	Thymus	Thymus
19	chr12:57031400-57037200	Strong transcription	NH-A	brain
20	chr12:57031400-57037400	Strong transcription	Brain Germinal Matrix	brain
21	chr12:57031400-57037600	Strong transcription	HSMM	muscle
22	chr12:57031400-57037600	Strong transcription	Osteobl	bone
23	chr12:57031400-57038200	Strong transcription	HSMMtube	muscle
24	chr12:57031400-57038400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:57031400-57038400	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr12:57031400-57038400	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr12:57031600-57033800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:57031600-57033800	Strong transcription	Right Ventricle	heart
29	chr12:57031600-57034000	Strong transcription	Brain Cingulate Gyrus	brain
30	chr12:57031600-57034000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr12:57031600-57034000	Strong transcription	Fetal Brain Male	brain
32	chr12:57031600-57034400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr12:57031600-57034400	Strong transcription	Fetal Kidney	kidney
34	chr12:57031600-57035400	Strong transcription	Duodenum Mucosa	Duodenum
35	chr12:57031600-57035400	Strong transcription	Left Ventricle	heart
36	chr12:57031600-57036000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr12:57031600-57036000	Strong transcription	Esophagus	oesophagus
38	chr12:57031600-57036400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr12:57031600-57036400	Strong transcription	Dnd41	blood
40	chr12:57031600-57036400	Strong transcription	HUVEC	blood vessel
41	chr12:57031600-57036600	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr12:57031600-57037200	Strong transcription	Primary T cells from cord blood	blood
43	chr12:57031600-57037200	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr12:57031600-57037200	Strong transcription	Brain Anterior Caudate	brain
45	chr12:57031600-57037200	Strong transcription	Brain Hippocampus Middle	brain
46	chr12:57031600-57037200	Strong transcription	Brain Inferior Temporal Lobe	brain
47	chr12:57031600-57037200	Strong transcription	Colonic Mucosa	Colon
48	chr12:57031600-57037200	Strong transcription	Fetal Brain Female	brain
49	chr12:57031600-57037400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr12:57031600-57037400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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