Variant report

Variant	rs905593
Chromosome Location	chr1:161717739-161717740
allele	C/T
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	MTA3	chr1:161717403-161717930	GM12878	blood:	n/a	n/a
2	SPI1	chr1:161717611-161717867	GM12891	blood:	n/a	n/a
3	ATF2	chr1:161717575-161717928	GM12878	blood:	n/a	n/a
4	BATF	chr1:161717570-161717950	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:161709954..161712481-chr1:161715478..161718294,2	MCF-7	breast:

Variant related genes	Relation type
DUSP12	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1394065	0.92[ASN][1000 genomes]
rs16852851	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap];0.92[ASN][1000 genomes]
rs1891018	1.00[CHB][hapmap]
rs35541527	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3767638	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4532807	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4996823	1.00[CHB][hapmap]
rs61104653	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73019349	0.92[ASN][1000 genomes]
rs73019352	0.92[ASN][1000 genomes]
rs74125007	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74125022	0.92[ASN][1000 genomes]
rs74125028	0.92[ASN][1000 genomes]
rs953301	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv428257	chr1:161406315-161868263	Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv33393	chr1:161478681-162080327	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv464184	chr1:161646807-161885352	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv548075	chr1:161646807-161885352	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs905593	ATF6	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161706800-161718800	Weak transcription	NH-A	brain
2	chr1:161707600-161719200	Weak transcription	NHLF	lung
3	chr1:161711400-161718800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr1:161711600-161718600	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr1:161714000-161718200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:161714000-161718800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:161714000-161718800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr1:161714000-161718800	Weak transcription	HMEC	breast
9	chr1:161714000-161719000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:161714200-161718800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:161714400-161718800	Weak transcription	NHDF-Ad	bronchial
12	chr1:161714400-161718800	Weak transcription	Osteobl	bone
13	chr1:161714600-161718800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr1:161714600-161719000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr1:161714600-161719200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:161714800-161719000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:161715400-161718600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:161715400-161718600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:161717400-161719200	Flanking Active TSS	GM12878-XiMat	blood
20	chr1:161717600-161717800	Enhancers	K562	blood
21	chr1:161717600-161717800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
22	chr1:161717600-161719000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:161717600-161719200	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr1:161717600-161719200	Enhancers	Primary B cells from peripheral blood	blood
25	chr1:161717600-161719200	Enhancers	HepG2	liver
26	chr1:161717600-161719400	Weak transcription	Lung	lung

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