Variant report

Variant	rs4883200
Chromosome Location	chr12:9073001-9073002
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10771204	0.88[ASN][1000 genomes]
rs10771216	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11047996	0.91[ASN][1000 genomes]
rs11048060	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1805740	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1805741	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1805778	0.91[ASN][1000 genomes]
rs3809218	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4882966	0.87[ASN][1000 genomes]
rs4882967	0.96[ASN][1000 genomes]
rs4882968	0.88[ASN][1000 genomes]
rs4882969	0.87[ASN][1000 genomes]
rs4883197	0.88[ASN][1000 genomes]
rs4883198	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4883199	0.91[ASN][1000 genomes]
rs7297194	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7309772	0.91[ASN][1000 genomes]
rs7312166	0.85[ASN][1000 genomes]
rs7312676	0.84[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4883200	PHC1	cis	Artery Tibial	GTEx
rs4883200	PHC1	cis	Esophagus Muscularis	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9068200-9074000	Weak transcription	Liver	Liver
2	chr12:9068200-9074000	Weak transcription	Spleen	Spleen
3	chr12:9068200-9074800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:9068200-9075000	Weak transcription	Pancreas	Pancrea
5	chr12:9068200-9079000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:9068200-9084000	Weak transcription	Esophagus	oesophagus
7	chr12:9068200-9086400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:9068200-9088800	Weak transcription	Gastric	stomach
9	chr12:9068200-9091400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr12:9068200-9094200	Weak transcription	Colonic Mucosa	Colon
11	chr12:9068200-9094200	Weak transcription	Lung	lung
12	chr12:9068200-9094200	Weak transcription	Psoas Muscle	Psoas
13	chr12:9068200-9094200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr12:9068200-9094200	Weak transcription	Small Intestine	intestine
15	chr12:9068200-9100000	Weak transcription	Stomach Mucosa	stomach
16	chr12:9068400-9073600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:9068400-9073600	Weak transcription	HMEC	breast
18	chr12:9068400-9075000	Weak transcription	HSMMtube	muscle
19	chr12:9068400-9075400	Weak transcription	A549	lung
20	chr12:9068600-9073400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr12:9068600-9081200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:9068800-9073600	Weak transcription	HUVEC	blood vessel
23	chr12:9068800-9073800	Weak transcription	NH-A	brain
24	chr12:9068800-9081200	Weak transcription	NHDF-Ad	bronchial
25	chr12:9068800-9081600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr12:9068800-9084400	Weak transcription	Osteobl	bone
27	chr12:9068800-9086400	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr12:9069000-9073600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr12:9069000-9073600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:9069000-9073600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr12:9069000-9079600	Weak transcription	Fetal Brain Male	brain
32	chr12:9069000-9086400	Weak transcription	HepG2	liver
33	chr12:9069000-9094200	Weak transcription	NHLF	lung
34	chr12:9069400-9073800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr12:9069400-9094000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr12:9069400-9094200	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr12:9069600-9084400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr12:9069600-9092000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr12:9069800-9074000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:9069800-9075000	Weak transcription	Fetal Heart	heart
41	chr12:9069800-9082400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr12:9069800-9083600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr12:9069800-9083800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr12:9070000-9073600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr12:9070200-9076000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr12:9070400-9075800	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr12:9070400-9078000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr12:9070400-9078800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr12:9070400-9079000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr12:9070400-9079600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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