Variant report

Variant	rs11047996
Chromosome Location	chr12:9071947-9071948
allele	A/G
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	chr12:9071854-9072547	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:9071947..9074171-chr12:9077435..9080273,2	K562	blood:

Variant related genes	Relation type
PHC1	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10743564	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10771204	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10771216	0.91[ASN][1000 genomes]
rs1805762	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1805778	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3809218	0.86[ASN][1000 genomes]
rs4882966	0.96[ASN][1000 genomes]
rs4882967	0.87[ASN][1000 genomes]
rs4882968	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4882969	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4882970	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4883197	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4883198	0.91[ASN][1000 genomes]
rs4883199	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4883200	0.91[ASN][1000 genomes]
rs7309772	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7312166	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7312676	0.93[ASN][1000 genomes]

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9068200-9072000	Weak transcription	Left Ventricle	heart
2	chr12:9068200-9072200	Weak transcription	Fetal Intestine Small	intestine
3	chr12:9068200-9072400	Weak transcription	Aorta	Aorta
4	chr12:9068200-9072400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr12:9068200-9074000	Weak transcription	Liver	Liver
6	chr12:9068200-9074000	Weak transcription	Spleen	Spleen
7	chr12:9068200-9074800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr12:9068200-9075000	Weak transcription	Pancreas	Pancrea
9	chr12:9068200-9079000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:9068200-9084000	Weak transcription	Esophagus	oesophagus
11	chr12:9068200-9086400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:9068200-9088800	Weak transcription	Gastric	stomach
13	chr12:9068200-9091400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr12:9068200-9094200	Weak transcription	Colonic Mucosa	Colon
15	chr12:9068200-9094200	Weak transcription	Lung	lung
16	chr12:9068200-9094200	Weak transcription	Psoas Muscle	Psoas
17	chr12:9068200-9094200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr12:9068200-9094200	Weak transcription	Small Intestine	intestine
19	chr12:9068200-9100000	Weak transcription	Stomach Mucosa	stomach
20	chr12:9068400-9072200	Weak transcription	NHEK	skin
21	chr12:9068400-9072400	Weak transcription	Adipose Nuclei	Adipose
22	chr12:9068400-9072400	Weak transcription	Right Ventricle	heart
23	chr12:9068400-9073600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:9068400-9073600	Weak transcription	HMEC	breast
25	chr12:9068400-9075000	Weak transcription	HSMMtube	muscle
26	chr12:9068400-9075400	Weak transcription	A549	lung
27	chr12:9068600-9072000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr12:9068600-9073400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr12:9068600-9081200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:9068800-9072000	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr12:9068800-9073600	Weak transcription	HUVEC	blood vessel
32	chr12:9068800-9073800	Weak transcription	NH-A	brain
33	chr12:9068800-9081200	Weak transcription	NHDF-Ad	bronchial
34	chr12:9068800-9081600	Weak transcription	Duodenum Mucosa	Duodenum
35	chr12:9068800-9084400	Weak transcription	Osteobl	bone
36	chr12:9068800-9086400	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr12:9069000-9072400	Weak transcription	Brain Angular Gyrus	brain
38	chr12:9069000-9072400	Weak transcription	Brain Cingulate Gyrus	brain
39	chr12:9069000-9073600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr12:9069000-9073600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr12:9069000-9073600	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr12:9069000-9079600	Weak transcription	Fetal Brain Male	brain
43	chr12:9069000-9086400	Weak transcription	HepG2	liver
44	chr12:9069000-9094200	Weak transcription	NHLF	lung
45	chr12:9069400-9073800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr12:9069400-9094000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr12:9069400-9094200	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr12:9069600-9084400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr12:9069600-9092000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr12:9069800-9072000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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