Variant report

Variant	rs4847294
Chromosome Location	chr1:94657769-94657770
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10443184	0.83[GIH][hapmap];0.82[TSI][hapmap]
rs1048866	0.85[GIH][hapmap];0.83[TSI][hapmap]
rs11196	0.87[GIH][hapmap];0.83[TSI][hapmap]
rs12044374	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12724975	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12752790	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1576593	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1929130	0.80[CEU][hapmap]
rs2022397	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2781572	0.88[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4847291	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4847293	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6657063	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6682445	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7551045	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs951534	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4847294	NENF	Cis_chr	lymphoblastoid	RTeQTL
rs4847294	SLC44A3	cis	parietal	SCAN

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94634200-94658400	Strong transcription	HSMM	muscle
2	chr1:94634200-94660800	Strong transcription	NH-A	brain
3	chr1:94634200-94661800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:94634200-94675200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr1:94634400-94660400	Strong transcription	NHDF-Ad	bronchial
6	chr1:94634600-94662000	Strong transcription	HMEC	breast
7	chr1:94635000-94658000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:94636000-94658400	Strong transcription	Liver	Liver
9	chr1:94636200-94673400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:94638400-94669200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:94640000-94684800	Weak transcription	Spleen	Spleen
12	chr1:94640200-94667800	Weak transcription	Gastric	stomach
13	chr1:94642400-94684600	Weak transcription	Fetal Stomach	stomach
14	chr1:94643400-94668800	Weak transcription	Stomach Mucosa	stomach
15	chr1:94644600-94664400	Weak transcription	A549	lung
16	chr1:94644800-94657800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:94644800-94670000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr1:94644800-94684400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:94645000-94667000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:94645000-94687600	Weak transcription	Pancreas	Pancrea
21	chr1:94645200-94663600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:94645800-94658200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:94647000-94667800	Weak transcription	Aorta	Aorta
24	chr1:94647000-94667800	Weak transcription	Lung	lung
25	chr1:94647200-94658800	Strong transcription	Osteobl	bone
26	chr1:94647200-94662800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:94647200-94667000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:94647200-94667600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr1:94647200-94669200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr1:94647200-94675800	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr1:94647400-94658200	Strong transcription	Muscle Satellite Cultured Cells	--
32	chr1:94647400-94669200	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr1:94647800-94668000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr1:94647800-94676200	Weak transcription	Small Intestine	intestine
35	chr1:94648800-94658400	Strong transcription	Adipose Nuclei	Adipose
36	chr1:94648800-94661000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:94649400-94660000	Weak transcription	Right Atrium	heart
38	chr1:94649400-94684000	Weak transcription	Right Ventricle	heart
39	chr1:94649600-94680000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr1:94650600-94658400	Strong transcription	NHLF	lung
41	chr1:94652200-94667600	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr1:94653400-94661400	Strong transcription	NHEK	skin
43	chr1:94653600-94668200	Weak transcription	Placenta	Placenta
44	chr1:94653800-94665000	Weak transcription	Psoas Muscle	Psoas
45	chr1:94653800-94665200	Weak transcription	Fetal Kidney	kidney
46	chr1:94654600-94665200	Weak transcription	HSMMtube	muscle
47	chr1:94654800-94666800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:94655000-94666200	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr1:94655800-94664600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr1:94656200-94658400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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