Variant report

Variant	rs4883199
Chromosome Location	chr12:9070578-9070579
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	MAFK	chr12:9070370-9070670	IMR90	lung:	n/a	n/a
2	POLR2A	chr12:9069248-9070637	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
PHC1	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10743564	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10771204	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10771216	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs11047996	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11048060	0.85[JPT][hapmap]
rs1805740	0.80[JPT][hapmap]
rs1805741	0.80[JPT][hapmap]
rs1805762	1.00[CEU][hapmap];0.90[JPT][hapmap];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1805778	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2477	1.00[GIH][hapmap]
rs3809218	0.86[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs4882966	0.96[ASN][1000 genomes]
rs4882967	0.87[ASN][1000 genomes]
rs4882968	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4882969	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4882970	1.00[GIH][hapmap];0.93[TSI][hapmap];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4883197	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.84[MEX][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4883198	0.93[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs4883200	0.91[ASN][1000 genomes]
rs7304121	1.00[CEU][hapmap]
rs7309772	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7312166	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7312676	0.93[ASN][1000 genomes]
rs887782	0.80[YRI][hapmap]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9068200-9070800	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
2	chr12:9068200-9071000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:9068200-9071000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:9068200-9071200	Weak transcription	Fetal Intestine Large	intestine
5	chr12:9068200-9072000	Weak transcription	Left Ventricle	heart
6	chr12:9068200-9072200	Weak transcription	Fetal Intestine Small	intestine
7	chr12:9068200-9072400	Weak transcription	Aorta	Aorta
8	chr12:9068200-9072400	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr12:9068200-9074000	Weak transcription	Liver	Liver
10	chr12:9068200-9074000	Weak transcription	Spleen	Spleen
11	chr12:9068200-9074800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr12:9068200-9075000	Weak transcription	Pancreas	Pancrea
13	chr12:9068200-9079000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:9068200-9084000	Weak transcription	Esophagus	oesophagus
15	chr12:9068200-9086400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:9068200-9088800	Weak transcription	Gastric	stomach
17	chr12:9068200-9091400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr12:9068200-9094200	Weak transcription	Colonic Mucosa	Colon
19	chr12:9068200-9094200	Weak transcription	Lung	lung
20	chr12:9068200-9094200	Weak transcription	Psoas Muscle	Psoas
21	chr12:9068200-9094200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr12:9068200-9094200	Weak transcription	Small Intestine	intestine
23	chr12:9068200-9100000	Weak transcription	Stomach Mucosa	stomach
24	chr12:9068400-9070600	Weak transcription	Placenta	Placenta
25	chr12:9068400-9070600	Weak transcription	Fetal Thymus	thymus
26	chr12:9068400-9070600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr12:9068400-9071000	Weak transcription	Fetal Muscle Leg	muscle
28	chr12:9068400-9071200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr12:9068400-9071200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr12:9068400-9071400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr12:9068400-9072200	Weak transcription	NHEK	skin
32	chr12:9068400-9072400	Weak transcription	Adipose Nuclei	Adipose
33	chr12:9068400-9072400	Weak transcription	Right Ventricle	heart
34	chr12:9068400-9073600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:9068400-9073600	Weak transcription	HMEC	breast
36	chr12:9068400-9075000	Weak transcription	HSMMtube	muscle
37	chr12:9068400-9075400	Weak transcription	A549	lung
38	chr12:9068600-9071000	Weak transcription	Primary B cells from peripheral blood	blood
39	chr12:9068600-9071000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr12:9068600-9071000	Weak transcription	Fetal Stomach	stomach
41	chr12:9068600-9071000	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr12:9068600-9071200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr12:9068600-9071200	Weak transcription	Primary B cells from cord blood	blood
44	chr12:9068600-9071200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr12:9068600-9071200	Weak transcription	HSMM	muscle
46	chr12:9068600-9072000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr12:9068600-9073400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr12:9068600-9081200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr12:9068800-9071000	Weak transcription	Colon Smooth Muscle	Colon
50	chr12:9068800-9071000	Weak transcription	Fetal Kidney	kidney

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