Variant report

Variant	rs1357935
Chromosome Location	chr12:47560323-47560324
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:47557715..47560552-chr12:47561242..47563669,2	MCF-7	breast:
2	chr12:47559137..47560939-chr12:47562443..47565562,3	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10785658	0.95[CEU][hapmap];0.82[CHB][hapmap];0.89[EUR][1000 genomes]
rs10785660	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10785661	0.80[TSI][hapmap]
rs10881056	0.93[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10881057	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10881058	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11183755	0.95[CEU][hapmap];0.87[CHB][hapmap];0.89[EUR][1000 genomes]
rs11183769	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11183774	0.95[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];0.94[JPT][hapmap];0.96[MEX][hapmap];0.81[MKK][hapmap];0.90[TSI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12371765	0.95[CEU][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12578995	0.95[CEU][hapmap];0.88[GIH][hapmap];0.88[MEX][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1357933	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1525444	0.95[CEU][hapmap];0.88[EUR][1000 genomes]
rs1880600	0.91[CEU][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1917658	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1949864	0.95[CEU][hapmap];0.82[CHB][hapmap];0.89[EUR][1000 genomes]
rs2408714	0.85[CEU][hapmap]
rs4768141	0.93[JPT][hapmap];0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4768777	0.95[CEU][hapmap];0.88[GIH][hapmap];0.88[MEX][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6582696	0.95[CEU][hapmap];0.93[CHB][hapmap];0.88[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7135951	1.00[CEU][hapmap];0.85[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7136496	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7295263	0.86[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7299627	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7311824	0.82[CEU][hapmap];0.83[TSI][hapmap]
rs7958186	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs7958922	0.82[EUR][1000 genomes]
rs7963822	0.95[CEU][hapmap];0.82[CHB][hapmap];0.80[YRI][hapmap];0.89[EUR][1000 genomes]
rs7974123	0.89[EUR][1000 genomes]
rs832727	0.84[MEX][hapmap]
rs9634260	0.86[CEU][hapmap];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469368	chr12:47374908-47675680	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv558784	chr12:47374908-47675680	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv832399	chr12:47502910-47689601	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv2751100	chr12:47541390-47746157	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1357935	DNAJC22	cis	cerebellum	SCAN

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47536000-47578000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:47536200-47564200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:47550400-47562200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:47550600-47571800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr12:47550600-47582400	Weak transcription	Aorta	Aorta
6	chr12:47550800-47570000	Weak transcription	Colon Smooth Muscle	Colon
7	chr12:47550800-47570200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr12:47551200-47583600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr12:47551400-47567200	Weak transcription	Spleen	Spleen
10	chr12:47554800-47579600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr12:47555000-47565800	Weak transcription	Primary B cells from peripheral blood	blood
12	chr12:47555000-47576400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr12:47556800-47570400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr12:47557400-47564600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr12:47557800-47560400	Enhancers	A549	lung
16	chr12:47557800-47581600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr12:47558600-47560400	Enhancers	K562	blood
18	chr12:47558600-47561000	Weak transcription	Gastric	stomach
19	chr12:47558600-47580200	Weak transcription	Primary B cells from cord blood	blood
20	chr12:47558800-47561200	Weak transcription	Pancreas	Pancrea
21	chr12:47558800-47570000	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr12:47558800-47582200	Weak transcription	NH-A	brain
23	chr12:47558800-47582400	Weak transcription	Lung	lung
24	chr12:47559000-47570200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr12:47559000-47578000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr12:47559000-47582200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr12:47559400-47565200	Weak transcription	Primary T cells from cord blood	blood
28	chr12:47559400-47570800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr12:47559600-47561400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:47559600-47561600	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr12:47559800-47560400	Enhancers	Fetal Intestine Small	intestine
32	chr12:47559800-47560800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr12:47560000-47560800	Enhancers	Adipose Nuclei	Adipose
34	chr12:47560200-47561400	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr12:47560200-47564000	Weak transcription	Fetal Intestine Large	intestine
36	chr12:47560200-47570000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr12:47560200-47578800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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