Variant report

Variant	rs10874786
Chromosome Location	chr1:93935130-93935131
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1055654	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10874790	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11164924	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs11164936	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11164938	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11164942	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11164943	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12042552	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12123339	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12135266	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12742850	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1812668	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs237439	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2391271	0.94[ASN][1000 genomes]
rs2624436	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2624439	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35102250	0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs3767967	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4847245	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4847428	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4847429	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4847431	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7546702	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7551016	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8179368	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[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	nsv871640	chr1:93807122-93953469	Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10874786	TMED5	Cis_1M	lymphoblastoid	RTeQTL
rs10874786	RP4-717I23.3	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93915200-93935800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:93915200-93937000	Weak transcription	Esophagus	oesophagus
3	chr1:93915200-93937000	Weak transcription	Lung	lung
4	chr1:93917600-93937200	Weak transcription	Fetal Brain Male	brain
5	chr1:93919800-93937000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:93920000-93936800	Weak transcription	NH-A	brain
7	chr1:93920000-93943800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:93920400-93936600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:93921200-93936000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr1:93921200-93936600	Weak transcription	HUVEC	blood vessel
11	chr1:93921200-93937000	Weak transcription	Left Ventricle	heart
12	chr1:93921200-93939800	Weak transcription	Right Ventricle	heart
13	chr1:93922600-93944000	Weak transcription	Gastric	stomach
14	chr1:93924400-93937000	Weak transcription	Fetal Lung	lung
15	chr1:93925800-93937000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr1:93926000-93937200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr1:93926800-93936000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr1:93927200-93936400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr1:93927600-93935600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr1:93927600-93943800	Weak transcription	Pancreas	Pancrea
21	chr1:93928400-93936600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr1:93929000-93946400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:93929400-93936600	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr1:93930000-93937200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr1:93930600-93943600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:93933200-93936800	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr1:93933200-93937600	Weak transcription	Fetal Kidney	kidney
28	chr1:93933400-93937000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:93933400-93943800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr1:93933600-93937000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr1:93933800-93936800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:93934200-93939000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:93934200-93943600	Weak transcription	Fetal Intestine Small	intestine
34	chr1:93934200-93943800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr1:93934600-93935600	Weak transcription	Hela-S3	cervix

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