Variant report

Variant	rs6745697
Chromosome Location	chr2:183652656-183652657
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:183651149-183654005	K562	blood:	n/a	n/a
2	POLR2A	chr2:183651904-183652664	HepG2	liver:	n/a	n/a
3	POLR2A	chr2:183652610-183652862	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
RPL31P15	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1037404	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10931040	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11678585	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11695731	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13509	0.83[EUR][1000 genomes]
rs2118591	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs288239	0.83[EUR][1000 genomes]
rs288240	0.80[EUR][1000 genomes]
rs288241	0.83[EUR][1000 genomes]
rs288283	0.81[EUR][1000 genomes]
rs288285	0.82[EUR][1000 genomes]
rs288287	0.81[EUR][1000 genomes]
rs288291	0.81[EUR][1000 genomes]
rs288292	0.81[EUR][1000 genomes]
rs288293	0.81[EUR][1000 genomes]
rs288296	0.80[EUR][1000 genomes]
rs288299	0.80[EUR][1000 genomes]
rs288300	0.83[EUR][1000 genomes]
rs288303	0.81[EUR][1000 genomes]
rs288304	0.84[EUR][1000 genomes]
rs288305	0.81[EUR][1000 genomes]
rs288306	0.84[EUR][1000 genomes]
rs288307	0.81[EUR][1000 genomes]
rs288308	0.81[EUR][1000 genomes]
rs288309	0.81[EUR][1000 genomes]
rs288310	0.81[EUR][1000 genomes]
rs288311	0.80[EUR][1000 genomes]
rs288312	0.83[EUR][1000 genomes]
rs288313	0.81[EUR][1000 genomes]
rs34818934	0.83[EUR][1000 genomes]
rs3738945	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4584994	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62188170	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6716810	0.80[AMR][1000 genomes]
rs6729801	0.82[EUR][1000 genomes]
rs6761415	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7576939	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9678817	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2757842	chr2:183437700-183835084	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2759104	chr2:183437700-183835084	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2756954	chr2:183528670-183764930	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv875483	chr2:183537399-183657867	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	esv34847	chr2:183537399-183786763	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	esv3693445	chr2:183542825-183725221	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv1004531	chr2:183648083-183698793	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv536070	chr2:183648083-183698793	Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6745697	DNAJC10	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183581800-183655600	Weak transcription	Pancreas	Pancrea
2	chr2:183627200-183657800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:183631000-183652800	Weak transcription	NHLF	lung
4	chr2:183631600-183653400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:183633800-183652800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:183633800-183657800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr2:183639800-183653400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr2:183639800-183654600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:183643800-183656600	Weak transcription	HUVEC	blood vessel
10	chr2:183644200-183652800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:183645200-183657800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:183645400-183654200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr2:183645400-183655000	Weak transcription	Fetal Intestine Small	intestine
14	chr2:183645600-183657200	Weak transcription	Adipose Nuclei	Adipose
15	chr2:183645800-183652800	Weak transcription	A549	lung
16	chr2:183645800-183653800	Weak transcription	Fetal Muscle Leg	muscle
17	chr2:183645800-183655000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr2:183645800-183657200	Weak transcription	NHEK	skin
19	chr2:183645800-183657800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:183646000-183653400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:183646000-183653600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr2:183646000-183653800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:183646000-183654400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:183646000-183658800	Weak transcription	Left Ventricle	heart
25	chr2:183646000-183659400	Weak transcription	Aorta	Aorta
26	chr2:183646200-183653200	Weak transcription	Primary B cells from cord blood	blood
27	chr2:183646200-183654400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:183646200-183657200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr2:183646200-183657800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr2:183650200-183657000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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