Variant report

Variant	rs4847431
Chromosome Location	chr1:93984804-93984805
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1055654	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10874786	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10874790	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11164936	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11164938	1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11164939	0.90[CHB][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs11164941	0.82[ASN][1000 genomes]
rs11164942	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11164943	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12034656	0.85[ASN][1000 genomes]
rs12042552	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12123339	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12135266	0.89[CEU][hapmap];0.83[CHB][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12742850	1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17109958	0.91[CHB][hapmap];0.88[JPT][hapmap]
rs1812668	1.00[CEU][hapmap];0.82[CHB][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs237438	0.87[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs237439	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2391271	0.87[CHB][hapmap]
rs2433279	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs2624436	0.84[CHB][hapmap];0.93[JPT][hapmap];0.85[YRI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2624439	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3767966	0.86[CHB][hapmap];0.88[JPT][hapmap]
rs3767967	1.00[CEU][hapmap];0.82[CHB][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4847245	1.00[CEU][hapmap];0.85[CHB][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4847428	1.00[CEU][hapmap];0.85[CHB][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4847429	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61784068	0.84[ASN][1000 genomes]
rs7543847	0.90[CHB][hapmap];0.88[JPT][hapmap]
rs7546702	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7551016	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8179368	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011853	chr1:93966450-94039005	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4847431	TMED5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93958000-93997200	Weak transcription	HSMMtube	muscle
2	chr1:93958800-93991800	Weak transcription	Gastric	stomach
3	chr1:93961000-93988400	Weak transcription	HUVEC	blood vessel
4	chr1:93964600-93990200	Weak transcription	HSMM	muscle
5	chr1:93964600-94015200	Weak transcription	Fetal Brain Male	brain
6	chr1:93965000-94013200	Weak transcription	Adipose Nuclei	Adipose
7	chr1:93965000-94017400	Weak transcription	Stomach Mucosa	stomach
8	chr1:93972200-93993800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:93973200-94016800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:93973400-94032000	Weak transcription	Esophagus	oesophagus
11	chr1:93974000-93985000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr1:93975000-93986800	Weak transcription	Pancreas	Pancrea
13	chr1:93975000-93988200	Weak transcription	Fetal Kidney	kidney
14	chr1:93975000-93996800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr1:93975200-93986200	Weak transcription	HepG2	liver
16	chr1:93975200-93986800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr1:93975200-93988400	Weak transcription	Dnd41	blood
18	chr1:93975200-93996800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr1:93975200-93997000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr1:93975400-93985200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:93975400-93986000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:93975400-93986200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:93975400-93986600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:93975400-93986600	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr1:93975400-93986800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:93975400-93987800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:93975400-93991800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr1:93975400-93995200	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr1:93975400-93996000	Weak transcription	Fetal Lung	lung
30	chr1:93975400-93996800	Weak transcription	Brain Germinal Matrix	brain
31	chr1:93975400-93996800	Weak transcription	Fetal Muscle Trunk	muscle
32	chr1:93975400-93997000	Weak transcription	Fetal Stomach	stomach
33	chr1:93975400-93997200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr1:93975400-93997200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr1:93975400-93997400	Weak transcription	Fetal Brain Female	brain
36	chr1:93975400-94006400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr1:93975600-93985200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr1:93975600-93986600	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr1:93975600-93986800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr1:93975600-93988400	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr1:93980000-93997000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:93982600-93986800	Weak transcription	Primary hematopoietic stem cells	blood
43	chr1:93983600-93985000	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr1:93984000-93985800	Enhancers	Muscle Satellite Cultured Cells	--
45	chr1:93984000-93997800	Weak transcription	Aorta	Aorta
46	chr1:93984200-93985200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:93984200-93985600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:93984200-93985600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr1:93984200-93985600	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr1:93984200-93985800	Enhancers	HMEC	breast

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