Variant report

Variant	rs11608807
Chromosome Location	chr12:120892708-120892709
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:120892635-120893535	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr12:120892616-120894559	HepG2	liver:	n/a	n/a
3	POLR2A	chr12:120892658-120893020	K562	blood:	n/a	n/a
4	POLR2A	chr12:120892646-120892879	U87	brain:	n/a	n/a
5	POLR2A	chr12:120892627-120893391	GM12878	blood:	n/a	n/a
6	POLR2A	chr12:120892594-120893479	PFSK-1	brain:	n/a	n/a
7	POLR2A	chr12:120892640-120892865	K562	blood:	n/a	n/a
8	POLR2A	chr12:120892654-120892879	U87	brain:	n/a	n/a
9	POLR2A	chr12:120892694-120892820	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr12:120892680-120892820	GM12878	blood:	n/a	n/a
11	POLR2A	chr12:120892707-120892808	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120806478..120809212-chr12:120890745..120893495,2	MCF-7	breast:
2	chr12:120890623..120893474-chr12:120971364..120973181,2	K562	blood:
3	chr12:120883001..120885733-chr12:120888427..120893155,6	K562	blood:
4	chr12:120784433..120787362-chr12:120891914..120893925,2	MCF-7	breast:
5	chr12:120877284..120879575-chr12:120889829..120893367,4	K562	blood:
6	chr12:120881786..120887915-chr12:120889674..120896423,17	MCF-7	breast:
7	chr12:120890596..120893459-chr12:120932974..120935668,2	MCF-7	breast:
8	chr12:120888535..120893350-chr12:120899980..120905393,5	MCF-7	breast:

No data

Variant related genes	Relation type
RPL31P52	TF binding region
ENSG00000135097	Chromatin interaction
ENSG00000110871	Chromatin interaction
ENSG00000248008	Chromatin interaction
ENSG00000170855	Chromatin interaction
ENSG00000088986	Chromatin interaction
ENSG00000111786	Chromatin interaction
ENSG00000022840	Chromatin interaction
ENSG00000239881	Chromatin interaction
ENSG00000257218	Chromatin interaction
ENSG00000111775	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11065140	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11065142	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11548262	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11609119	0.92[EUR][1000 genomes]
rs11611781	0.90[ASN][1000 genomes]
rs11611814	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11612519	0.93[ASN][1000 genomes]
rs11613214	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11614224	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11615264	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11615719	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11829765	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16950293	0.93[ASN][1000 genomes]
rs16950305	0.88[ASN][1000 genomes]
rs2280168	0.90[ASN][1000 genomes]
rs35696148	0.87[AMR][1000 genomes]
rs3742049	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3759402	0.90[ASN][1000 genomes]
rs3817301	0.93[ASN][1000 genomes]
rs3829291	0.93[ASN][1000 genomes]
rs4102203	0.86[EUR][1000 genomes]
rs4439575	0.93[ASN][1000 genomes]
rs57646360	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59088579	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59201986	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60162888	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6490292	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66840048	0.90[ASN][1000 genomes]
rs7027	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7134710	0.92[EUR][1000 genomes]
rs719449	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs719450	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7296473	0.93[ASN][1000 genomes]
rs7297861	0.93[ASN][1000 genomes]
rs7299954	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7314103	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73403923	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73403943	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73403947	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73403968	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73403975	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73405628	0.93[ASN][1000 genomes]
rs7961895	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7962410	0.90[ASN][1000 genomes]
rs7964008	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7973555	0.90[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	chr12:120884800-120893000	Weak transcription	Aorta	Aorta
2	chr12:120884800-120893200	Weak transcription	Small Intestine	intestine
3	chr12:120885000-120893800	Weak transcription	Ovary	ovary
4	chr12:120885400-120893200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr12:120885400-120893200	Weak transcription	Colonic Mucosa	Colon
6	chr12:120885400-120893800	Weak transcription	Esophagus	oesophagus
7	chr12:120885400-120893800	Weak transcription	Lung	lung
8	chr12:120885400-120894000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:120885400-120895600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:120885400-120904400	Strong transcription	Fetal Muscle Trunk	muscle
11	chr12:120885400-120906000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr12:120885400-120906000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:120885600-120893800	Weak transcription	HSMMtube	muscle
14	chr12:120885600-120894000	Weak transcription	Brain Anterior Caudate	brain
15	chr12:120885600-120894400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr12:120885600-120896400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr12:120885600-120904000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:120885600-120904000	Strong transcription	Fetal Stomach	stomach
19	chr12:120885800-120893200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr12:120885800-120893800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr12:120885800-120894000	Weak transcription	Brain Angular Gyrus	brain
22	chr12:120885800-120894000	Weak transcription	Psoas Muscle	Psoas
23	chr12:120885800-120894000	Weak transcription	HUVEC	blood vessel
24	chr12:120885800-120894200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr12:120885800-120894200	Weak transcription	Brain Substantia Nigra	brain
26	chr12:120885800-120897800	Weak transcription	Fetal Heart	heart
27	chr12:120885800-120904200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr12:120885800-120904400	Strong transcription	Fetal Muscle Leg	muscle
29	chr12:120885800-120904400	Weak transcription	Right Atrium	heart
30	chr12:120885800-120904600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr12:120885800-120904600	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr12:120886000-120894800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr12:120886000-120897000	Weak transcription	Fetal Brain Male	brain
34	chr12:120886000-120904200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr12:120886200-120904800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr12:120886400-120894000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr12:120886400-120897800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr12:120886600-120904200	Strong transcription	Fetal Thymus	thymus
39	chr12:120887000-120903400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:120887000-120904000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr12:120887000-120904000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr12:120887000-120904000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr12:120887000-120905000	Strong transcription	Thymus	Thymus
44	chr12:120887000-120905600	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr12:120887200-120903200	Strong transcription	Dnd41	blood
46	chr12:120887200-120903400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr12:120887200-120904600	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr12:120887400-120894000	Weak transcription	Gastric	stomach
49	chr12:120887400-120894400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr12:120887600-120894200	Weak transcription	Pancreas	Pancrea

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