Variant report

Variant	rs2950393
Chromosome Location	chr12:57036023-57036024
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:57035761-57036720	K562	blood:	n/a	n/a
2	POLR2A	chr12:57036017-57036088	MCF-7	breast:	n/a	n/a
3	POLR2A	chr12:57035927-57037425	GM12878	blood:	n/a	n/a
4	POLR2A	chr12:57035903-57036511	GM12891	blood:	n/a	n/a
5	POLR2A	chr12:57035979-57036264	K562	blood:	n/a	n/a
6	POLR2A	chr12:57035377-57036540	HepG2	liver:	n/a	n/a
7	POLR2A	chr12:57035964-57036182	GM12878	blood:	n/a	n/a
8	POLR2A	chr12:57035871-57036544	K562	blood:	n/a	n/a
9	POLR2A	chr12:57035788-57036642	GM12892	blood:	n/a	n/a
10	POLR2A	chr12:57035960-57036304	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr12:57035979-57036640	K562	blood:	n/a	n/a
12	HEY1	chr12:57035892-57036713	K562	blood:	n/a	n/a
13	POLR2A	chr12:57035420-57036751	PFSK-1	brain:	n/a	n/a
14	POLR2A	chr12:57035787-57036304	GM12892	blood:	n/a	n/a
15	POLR2A	chr12:57035815-57036771	SK-N-MC	brain:	n/a	n/a
16	POLR2A	chr12:57035816-57036710	GM12878	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57033589..57036096-chr12:57478215..57479936,2	MCF-7	breast:
2	chr12:57035919..57041993-chr12:57078486..57083961,15	MCF-7	breast:
3	chr12:57035906..57041425-chr12:57115344..57122353,14	K562	blood:

No data

Variant related genes	Relation type
ATP5B	TF binding region
ENSG00000196531	Chromatin interaction
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	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10747769	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10783794	0.83[ASN][1000 genomes]
rs10876913	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10876914	1.00[ASN][1000 genomes]
rs10876915	1.00[ASN][1000 genomes]
rs10876916	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1107479	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11171914	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11171916	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11171917	1.00[ASN][1000 genomes]
rs11835120	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11837319	1.00[ASN][1000 genomes]
rs12229457	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1465081	1.00[ASN][1000 genomes]
rs1563896	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1563897	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1962963	0.88[ASN][1000 genomes]
rs2255074	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2290893	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2926740	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2950387	0.93[ASN][1000 genomes]
rs2950388	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2950390	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2950394	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2958123	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2958124	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2958145	1.00[ASN][1000 genomes]
rs2958146	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2958153	0.91[ASN][1000 genomes]
rs2958154	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2958155	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36012661	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4759028	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67046307	1.00[ASN][1000 genomes]
rs7297289	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7303216	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7315472	1.00[ASN][1000 genomes]
rs73337030	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7972420	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7973157	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975783	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7980378	0.94[ASN][1000 genomes]
rs7980835	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs941207	0.94[ASN][1000 genomes]
rs9634246	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9634247	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9634277	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9989034	0.89[EUR][1000 genomes];0.99[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	chr12:57030600-57036800	Weak transcription	Right Atrium	heart
3	chr12:57030800-57037200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:57031200-57036400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:57031400-57036200	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr12:57031400-57037200	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr12:57031400-57037200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
8	chr12:57031400-57037200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr12:57031400-57037200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr12:57031400-57037200	Strong transcription	Thymus	Thymus
11	chr12:57031400-57037200	Strong transcription	NH-A	brain
12	chr12:57031400-57037400	Strong transcription	Brain Germinal Matrix	brain
13	chr12:57031400-57037600	Strong transcription	HSMM	muscle
14	chr12:57031400-57037600	Strong transcription	Osteobl	bone
15	chr12:57031400-57038200	Strong transcription	HSMMtube	muscle
16	chr12:57031400-57038400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:57031400-57038400	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr12:57031400-57038400	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr12:57031600-57036400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr12:57031600-57036400	Strong transcription	Dnd41	blood
21	chr12:57031600-57036400	Strong transcription	HUVEC	blood vessel
22	chr12:57031600-57036600	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr12:57031600-57037200	Strong transcription	Primary T cells from cord blood	blood
24	chr12:57031600-57037200	Strong transcription	Muscle Satellite Cultured Cells	--
25	chr12:57031600-57037200	Strong transcription	Brain Anterior Caudate	brain
26	chr12:57031600-57037200	Strong transcription	Brain Hippocampus Middle	brain
27	chr12:57031600-57037200	Strong transcription	Brain Inferior Temporal Lobe	brain
28	chr12:57031600-57037200	Strong transcription	Colonic Mucosa	Colon
29	chr12:57031600-57037200	Strong transcription	Fetal Brain Female	brain
30	chr12:57031600-57037400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:57031600-57037400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr12:57031600-57037600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr12:57031600-57037600	Strong transcription	Fetal Lung	lung
34	chr12:57031600-57037800	Strong transcription	H9 Cell Line	embryonic stem cell
35	chr12:57031600-57037800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr12:57031600-57038000	Strong transcription	Fetal Muscle Trunk	muscle
37	chr12:57031600-57038000	Strong transcription	Fetal Stomach	stomach
38	chr12:57031600-57038200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr12:57031600-57038400	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr12:57031600-57038400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr12:57031600-57038400	Strong transcription	Lung	lung
42	chr12:57031800-57036200	Strong transcription	Fetal Intestine Small	intestine
43	chr12:57031800-57036600	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr12:57031800-57037000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr12:57031800-57037200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr12:57031800-57037200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:57031800-57037200	Strong transcription	Primary B cells from peripheral blood	blood
48	chr12:57031800-57037200	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr12:57031800-57037200	Strong transcription	Fetal Thymus	thymus
50	chr12:57031800-57037200	Strong transcription	HMEC	breast

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