Variant report

Variant	rs11048063
Chromosome Location	chr12:9080187-9080188
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	chr12:9079783-9080978	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr12:9078994-9080220	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:9080157..9083092-chr12:9098935..9102679,4	K562	blood:
2	chr12:9071947..9074171-chr12:9077435..9080273,2	K562	blood:

Variant related genes	Relation type
PHC1	TF binding region
ENSG00000003056	Chromatin interaction
ENSG00000139187	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11047939	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11048034	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11048036	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11048037	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12371578	0.90[ASN][1000 genomes]
rs1805729	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1805738	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1805739	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805776	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3026261	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55710456	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	chr12:9068200-9084000	Weak transcription	Esophagus	oesophagus
2	chr12:9068200-9086400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:9068200-9088800	Weak transcription	Gastric	stomach
4	chr12:9068200-9091400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr12:9068200-9094200	Weak transcription	Colonic Mucosa	Colon
6	chr12:9068200-9094200	Weak transcription	Lung	lung
7	chr12:9068200-9094200	Weak transcription	Psoas Muscle	Psoas
8	chr12:9068200-9094200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr12:9068200-9094200	Weak transcription	Small Intestine	intestine
10	chr12:9068200-9100000	Weak transcription	Stomach Mucosa	stomach
11	chr12:9068600-9081200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:9068800-9081200	Weak transcription	NHDF-Ad	bronchial
13	chr12:9068800-9081600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr12:9068800-9084400	Weak transcription	Osteobl	bone
15	chr12:9068800-9086400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr12:9069000-9086400	Weak transcription	HepG2	liver
17	chr12:9069000-9094200	Weak transcription	NHLF	lung
18	chr12:9069400-9094000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr12:9069400-9094200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr12:9069600-9084400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr12:9069600-9092000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr12:9069800-9082400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr12:9069800-9083600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr12:9069800-9083800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr12:9070400-9083400	Weak transcription	K562	blood
26	chr12:9070400-9092000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:9070400-9092000	Strong transcription	Fetal Muscle Trunk	muscle
28	chr12:9070600-9092000	Strong transcription	Stomach Smooth Muscle	stomach
29	chr12:9070600-9092600	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr12:9070600-9092600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
31	chr12:9071000-9087800	Strong transcription	Fetal Brain Female	brain
32	chr12:9071000-9092000	Strong transcription	Fetal Muscle Leg	muscle
33	chr12:9071200-9080400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr12:9071200-9088000	Strong transcription	Primary T cells from cord blood	blood
35	chr12:9071400-9084400	Strong transcription	Brain Germinal Matrix	brain
36	chr12:9071400-9099400	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr12:9071600-9092000	Strong transcription	H9 Cell Line	embryonic stem cell
38	chr12:9071600-9092000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr12:9071600-9100000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr12:9072200-9080200	Strong transcription	Ovary	ovary
41	chr12:9072400-9092000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr12:9072400-9094200	Weak transcription	NHEK	skin
43	chr12:9072800-9082200	Weak transcription	Aorta	Aorta
44	chr12:9072800-9091000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr12:9072800-9094200	Weak transcription	HSMM	muscle
46	chr12:9073800-9099800	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr12:9074000-9082400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr12:9074200-9093800	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr12:9074400-9094000	Weak transcription	HUVEC	blood vessel
50	chr12:9074600-9094000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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