Variant report

Variant	rs1812668
Chromosome Location	chr1:93939396-93939397
allele	A/G
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: 38 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1055654	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10874786	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10874790	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11164924	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11164936	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11164938	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11164942	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11164943	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12042552	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12044883	0.83[JPT][hapmap]
rs12123339	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12133576	0.90[JPT][hapmap]
rs12135266	0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12138486	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs12406245	0.90[JPT][hapmap]
rs12742850	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1426318	0.90[JPT][hapmap]
rs1559828	0.90[JPT][hapmap]
rs237438	0.87[CEU][hapmap];0.91[CHB][hapmap]
rs237439	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2391271	0.95[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs2624436	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2624439	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35102250	0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs3767964	0.90[JPT][hapmap]
rs3767966	0.82[CHB][hapmap]
rs3767967	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4000699	0.83[YRI][hapmap]
rs4847240	0.90[JPT][hapmap]
rs4847245	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4847428	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4847429	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4847431	1.00[CEU][hapmap];0.82[CHB][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7525248	0.90[JPT][hapmap]
rs7546702	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7551016	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8179368	0.84[AFR][1000 genomes];0.86[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
rs1812668	RP4-717I23.3	cis	Adipose Subcutaneous	GTEx
rs1812668	TMED5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:30 , 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	chr1:93934200-93943600	Weak transcription	Fetal Intestine Small	intestine
9	chr1:93934200-93943800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:93937400-93939400	Weak transcription	Lung	lung
11	chr1:93937600-93939600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr1:93937600-93943800	Weak transcription	HepG2	liver
13	chr1:93937600-93954800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:93937800-93939800	Weak transcription	Fetal Lung	lung
15	chr1:93937800-93940000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:93938000-93940000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:93938000-93940400	Weak transcription	Adipose Nuclei	Adipose
18	chr1:93938000-93941400	Weak transcription	Liver	Liver
19	chr1:93938000-93942400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr1:93938800-93939400	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr1:93938800-93939600	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr1:93938800-93940000	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr1:93939000-93939400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr1:93939000-93939600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr1:93939200-93939600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
26	chr1:93939200-93939600	Enhancers	Placenta	Placenta
27	chr1:93939200-93939600	Enhancers	Left Ventricle	heart
28	chr1:93939200-93939800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:93939200-93940400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:93939200-93943600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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