Variant report

Variant	rs2118591
Chromosome Location	chr2:183583130-183583131
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	chr2:183583119-183583284	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
DNAJC10	TF binding region

Extended variants
information (count: 61 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1037404	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11678585	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11695731	0.83[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11901549	0.81[EUR][1000 genomes]
rs13509	0.92[CEU][hapmap]
rs167013	0.84[CEU][hapmap];0.82[JPT][hapmap]
rs17356762	0.92[CEU][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs184078	0.83[EUR][1000 genomes]
rs190830	0.84[CEU][hapmap]
rs192618	0.87[CEU][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes]
rs208393	0.88[CEU][hapmap]
rs288240	0.92[CEU][hapmap]
rs288241	0.88[CEU][hapmap]
rs288253	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs288254	0.84[EUR][1000 genomes]
rs288256	0.81[JPT][hapmap];0.84[EUR][1000 genomes]
rs288257	0.84[EUR][1000 genomes]
rs288258	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs288259	0.91[CEU][hapmap];0.82[JPT][hapmap];0.84[EUR][1000 genomes]
rs288260	0.81[CEU][hapmap]
rs288264	0.84[CEU][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes]
rs288265	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs288267	0.84[CEU][hapmap];0.82[JPT][hapmap]
rs288268	0.81[CEU][hapmap]
rs288278	0.81[EUR][1000 genomes]
rs288280	0.92[CEU][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes]
rs288283	0.92[CEU][hapmap]
rs288291	0.80[EUR][1000 genomes]
rs288295	0.87[CEU][hapmap];0.82[JPT][hapmap]
rs288306	0.92[CEU][hapmap]
rs288307	0.88[CEU][hapmap]
rs288310	0.92[CEU][hapmap]
rs288311	0.88[CEU][hapmap]
rs288313	0.81[EUR][1000 genomes]
rs288331	0.82[EUR][1000 genomes]
rs288334	0.82[JPT][hapmap]
rs288335	0.82[EUR][1000 genomes]
rs3115425	0.82[EUR][1000 genomes]
rs34818934	0.89[EUR][1000 genomes]
rs369573	0.82[EUR][1000 genomes]
rs3738945	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs409343	0.80[EUR][1000 genomes]
rs418159	0.83[EUR][1000 genomes]
rs432527	0.82[EUR][1000 genomes]
rs438248	0.92[CEU][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes]
rs442044	0.82[EUR][1000 genomes]
rs62188170	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6716810	0.82[AMR][1000 genomes]
rs6729801	0.87[CEU][hapmap];0.80[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6745697	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6761415	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs825660	0.92[CEU][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes]
rs825668	0.92[CEU][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes]
rs9678817	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2118591	DNAJC10	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183581200-183583400	Active TSS	Aorta	Aorta
2	chr2:183581200-183584200	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr2:183581600-183587400	Weak transcription	Lung	lung
4	chr2:183581600-183609600	Weak transcription	Spleen	Spleen
5	chr2:183581800-183584800	Weak transcription	Fetal Thymus	thymus
6	chr2:183581800-183585200	Weak transcription	Placenta	Placenta
7	chr2:183581800-183585800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:183581800-183587400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:183581800-183587400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr2:183581800-183587400	Weak transcription	Brain Germinal Matrix	brain
11	chr2:183581800-183587400	Weak transcription	Fetal Muscle Leg	muscle
12	chr2:183581800-183587400	Weak transcription	Fetal Stomach	stomach
13	chr2:183581800-183587800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:183581800-183588000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr2:183581800-183589600	Weak transcription	Ovary	ovary
16	chr2:183581800-183589800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr2:183581800-183590200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr2:183581800-183590600	Weak transcription	Left Ventricle	heart
19	chr2:183581800-183591400	Weak transcription	Psoas Muscle	Psoas
20	chr2:183581800-183601200	Weak transcription	Colon Smooth Muscle	Colon
21	chr2:183581800-183601800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr2:183581800-183602000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr2:183581800-183606800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr2:183581800-183607000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:183581800-183614600	Weak transcription	Right Ventricle	heart
26	chr2:183581800-183622600	Weak transcription	Colonic Mucosa	Colon
27	chr2:183581800-183631000	Weak transcription	Esophagus	oesophagus
28	chr2:183581800-183647600	Weak transcription	Gastric	stomach
29	chr2:183581800-183655600	Weak transcription	Pancreas	Pancrea
30	chr2:183582000-183588000	Weak transcription	Stomach Smooth Muscle	stomach
31	chr2:183582000-183590000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:183582000-183596200	Weak transcription	HSMMtube	muscle
33	chr2:183582000-183605200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr2:183582200-183584600	Weak transcription	Liver	Liver
35	chr2:183582400-183584000	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr2:183582400-183584200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:183582400-183584600	Weak transcription	Primary hematopoietic stem cells	blood
38	chr2:183582400-183584600	Weak transcription	Fetal Kidney	kidney
39	chr2:183582400-183585000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:183582400-183585000	Weak transcription	Adipose Nuclei	Adipose
41	chr2:183582400-183585600	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr2:183582400-183587000	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr2:183582400-183587400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr2:183582400-183588000	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr2:183582400-183589800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr2:183582400-183596400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr2:183582400-183601600	Weak transcription	Fetal Brain Female	brain
48	chr2:183582400-183601600	Weak transcription	Thymus	Thymus
49	chr2:183582400-183606800	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr2:183582400-183608800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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