Variant report

Variant	rs6729801
Chromosome Location	chr2:183584755-183584756
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1037404	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10931040	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11678585	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11695731	0.80[TSI][hapmap];0.82[AMR][1000 genomes]
rs167013	0.80[CEU][hapmap]
rs17356762	0.96[CEU][hapmap];0.95[TSI][hapmap];0.88[YRI][hapmap];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2118591	0.87[CEU][hapmap];0.80[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs288260	0.80[CEU][hapmap]
rs288264	0.80[CEU][hapmap]
rs288267	0.80[CEU][hapmap]
rs288268	0.80[CEU][hapmap]
rs3738945	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4584994	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62188170	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6716810	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6745697	0.82[EUR][1000 genomes]
rs6761415	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7576939	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7606369	0.81[ASN][1000 genomes]
rs9678817	0.81[AMR][1000 genomes];0.83[EUR][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
rs6729801	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	chr2:183581600-183587400	Weak transcription	Lung	lung
2	chr2:183581600-183609600	Weak transcription	Spleen	Spleen
3	chr2:183581800-183584800	Weak transcription	Fetal Thymus	thymus
4	chr2:183581800-183585200	Weak transcription	Placenta	Placenta
5	chr2:183581800-183585800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:183581800-183587400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:183581800-183587400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr2:183581800-183587400	Weak transcription	Brain Germinal Matrix	brain
9	chr2:183581800-183587400	Weak transcription	Fetal Muscle Leg	muscle
10	chr2:183581800-183587400	Weak transcription	Fetal Stomach	stomach
11	chr2:183581800-183587800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:183581800-183588000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr2:183581800-183589600	Weak transcription	Ovary	ovary
14	chr2:183581800-183589800	Weak transcription	Fetal Muscle Trunk	muscle
15	chr2:183581800-183590200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr2:183581800-183590600	Weak transcription	Left Ventricle	heart
17	chr2:183581800-183591400	Weak transcription	Psoas Muscle	Psoas
18	chr2:183581800-183601200	Weak transcription	Colon Smooth Muscle	Colon
19	chr2:183581800-183601800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr2:183581800-183602000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr2:183581800-183606800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr2:183581800-183607000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:183581800-183614600	Weak transcription	Right Ventricle	heart
24	chr2:183581800-183622600	Weak transcription	Colonic Mucosa	Colon
25	chr2:183581800-183631000	Weak transcription	Esophagus	oesophagus
26	chr2:183581800-183647600	Weak transcription	Gastric	stomach
27	chr2:183581800-183655600	Weak transcription	Pancreas	Pancrea
28	chr2:183582000-183588000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr2:183582000-183590000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:183582000-183596200	Weak transcription	HSMMtube	muscle
31	chr2:183582000-183605200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr2:183582400-183585000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:183582400-183585000	Weak transcription	Adipose Nuclei	Adipose
34	chr2:183582400-183585600	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr2:183582400-183587000	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr2:183582400-183587400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr2:183582400-183588000	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr2:183582400-183589800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr2:183582400-183596400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr2:183582400-183601600	Weak transcription	Fetal Brain Female	brain
41	chr2:183582400-183601600	Weak transcription	Thymus	Thymus
42	chr2:183582400-183606800	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr2:183582400-183608800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr2:183582400-183608800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr2:183582400-183610000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:183582600-183584800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:183582600-183584800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr2:183582600-183584800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr2:183582600-183584800	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr2:183582600-183584800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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