Variant report

Variant	rs4650100
Chromosome Location	chr1:71543877-71543878
allele	A/C
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	chr1:71518050-71545780	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:71537451..71540868-chr1:71542769..71545634,3	MCF-7	breast:

Variant related genes	Relation type
ZRANB2-AS2	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1009311	0.84[EUR][1000 genomes]
rs10493481	0.96[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs11209739	0.80[EUR][1000 genomes]
rs11209740	0.80[EUR][1000 genomes]
rs11209743	0.88[EUR][1000 genomes]
rs11209747	0.92[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs11209756	0.80[EUR][1000 genomes]
rs12035210	0.94[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs12118599	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12119958	0.85[EUR][1000 genomes]
rs12131265	0.88[CEU][hapmap];0.80[YRI][hapmap]
rs12139565	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12729268	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12739685	0.82[EUR][1000 genomes]
rs12748649	0.88[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs2066373	0.81[EUR][1000 genomes]
rs2817864	0.82[EUR][1000 genomes]
rs4128461	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4397614	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs4520371	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4650099	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7556111	0.87[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs880098	0.92[AFR][1000 genomes];0.98[EUR][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4650100	PTGER3	cis	uninvolved skin	skin_eQTL
rs4650100	PTGER3	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71520600-71544600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:71521400-71544200	Strong transcription	Adipose Nuclei	Adipose
3	chr1:71521800-71544600	Strong transcription	HSMM	muscle
4	chr1:71522000-71544200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:71522000-71544200	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr1:71522000-71544200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:71522000-71544400	Strong transcription	HMEC	breast
8	chr1:71522200-71544200	Strong transcription	Muscle Satellite Cultured Cells	--
9	chr1:71522200-71544600	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr1:71522400-71544200	Strong transcription	Liver	Liver
11	chr1:71522600-71544200	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr1:71522600-71544200	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr1:71522600-71544400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr1:71522600-71544400	Strong transcription	NH-A	brain
15	chr1:71522800-71544400	Strong transcription	Fetal Thymus	thymus
16	chr1:71522800-71544600	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr1:71522800-71544600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:71523000-71544400	Strong transcription	Osteobl	bone
19	chr1:71523000-71544600	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr1:71523000-71544600	Strong transcription	Placenta	Placenta
21	chr1:71523200-71544200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:71523200-71544400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:71523400-71544600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr1:71523600-71544000	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr1:71523600-71544200	Strong transcription	Primary B cells from peripheral blood	blood
26	chr1:71523600-71544800	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr1:71523600-71544800	Strong transcription	Fetal Lung	lung
28	chr1:71523800-71544000	Strong transcription	Duodenum Smooth Muscle	Duodenum
29	chr1:71523800-71544400	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr1:71524400-71544400	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr1:71524600-71544400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr1:71525000-71544600	Strong transcription	H1 Cell Line	embryonic stem cell
33	chr1:71525400-71544600	Strong transcription	Hela-S3	cervix
34	chr1:71526000-71544400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr1:71526400-71544200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:71527000-71544200	Strong transcription	NHDF-Ad	bronchial
37	chr1:71527400-71544600	Strong transcription	HepG2	liver
38	chr1:71530600-71544200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:71533600-71544200	Strong transcription	Brain Cingulate Gyrus	brain
40	chr1:71535000-71544000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr1:71535000-71544800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr1:71535000-71545800	Weak transcription	Gastric	stomach
43	chr1:71535200-71544200	Weak transcription	Fetal Intestine Small	intestine
44	chr1:71536200-71544000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr1:71536200-71544200	Strong transcription	Fetal Muscle Trunk	muscle
46	chr1:71536200-71544800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr1:71536400-71544400	Strong transcription	Primary hematopoietic stem cells	blood
48	chr1:71537400-71544200	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr1:71537400-71544800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr1:71537400-71545800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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