Variant report

Variant	rs11164936
Chromosome Location	chr1:93938097-93938098
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	chr1:93937413..93939936-chr1:93941729..93943394,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1055654	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10874786	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10874790	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11164924	0.83[ASN][1000 genomes]
rs11164938	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11164939	0.81[ASN][1000 genomes]
rs11164942	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11164943	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12042552	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12123339	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12135266	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12742850	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17109958	0.83[ASN][1000 genomes]
rs1812668	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs237438	0.81[AMR][1000 genomes]
rs237439	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2391271	0.84[ASN][1000 genomes]
rs2433279	0.83[ASN][1000 genomes]
rs2624436	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2624439	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35102250	0.81[ASN][1000 genomes]
rs3767967	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4847245	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4847428	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4847429	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4847431	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61780647	0.84[ASN][1000 genomes]
rs7543847	0.83[ASN][1000 genomes]
rs7546702	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7551016	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8179368	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11164936	TMED5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93920000-93943800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:93921200-93939800	Weak transcription	Right Ventricle	heart
3	chr1:93922600-93944000	Weak transcription	Gastric	stomach
4	chr1:93927600-93943800	Weak transcription	Pancreas	Pancrea
5	chr1:93929000-93946400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:93930600-93943600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:93933400-93943800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:93934200-93939000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:93934200-93943600	Weak transcription	Fetal Intestine Small	intestine
10	chr1:93934200-93943800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:93936800-93938200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr1:93937200-93939200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:93937400-93938400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr1:93937400-93939000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr1:93937400-93939000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:93937400-93939200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr1:93937400-93939200	Weak transcription	Left Ventricle	heart
18	chr1:93937400-93939400	Weak transcription	Lung	lung
19	chr1:93937600-93938800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr1:93937600-93939600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr1:93937600-93943800	Weak transcription	HepG2	liver
22	chr1:93937600-93954800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:93937800-93938800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr1:93937800-93939800	Weak transcription	Fetal Lung	lung
25	chr1:93937800-93940000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:93938000-93938800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr1:93938000-93938800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr1:93938000-93940000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:93938000-93940400	Weak transcription	Adipose Nuclei	Adipose
30	chr1:93938000-93941400	Weak transcription	Liver	Liver
31	chr1:93938000-93942400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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