Variant report

Variant	rs17627690
Chromosome Location	chr7:47811234-47811235
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:47811123..47812959-chr7:47824881..47826552,2	MCF-7	breast:
2	chr7:47802480..47806239-chr7:47808296..47811941,4	MCF-7	breast:
3	chr7:47810003..47811923-chr7:47819425..47821850,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000146666	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11760488	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11760507	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11773708	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17545279	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17627715	1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[ASN][1000 genomes]
rs17627805	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs56389109	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57776866	1.00[ASN][1000 genomes]
rs73093188	0.91[ASN][1000 genomes]
rs73097428	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73097433	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73097435	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73101473	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73103416	1.00[ASN][1000 genomes]
rs73103428	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv888003	chr7:47694270-47907214	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1018608	chr7:47708525-47831535	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1022906	chr7:47709936-47831535	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv1015163	chr7:47734913-47832389	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv538831	chr7:47734913-47832389	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv869585	chr7:47765428-48151324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv830990	chr7:47767540-47837584	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17627690	C7orf57	cis	cerebellum	SCAN
rs17627690	ZMIZ2	cis	cerebellum	SCAN
rs17627690	DDX56	cis	cerebellum	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47798600-47812200	Weak transcription	Aorta	Aorta
2	chr7:47804800-47811600	Weak transcription	Fetal Intestine Large	intestine
3	chr7:47806200-47815600	Weak transcription	NHLF	lung
4	chr7:47806400-47811400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr7:47808000-47811800	Weak transcription	HepG2	liver
6	chr7:47808000-47813000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:47810200-47812200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr7:47810400-47812400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:47810400-47812400	Enhancers	Osteobl	bone
10	chr7:47810600-47811600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:47810600-47811600	Enhancers	HUVEC	blood vessel
12	chr7:47810600-47812000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:47810600-47812400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:47810800-47812000	Enhancers	Colon Smooth Muscle	Colon
15	chr7:47810800-47812200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:47810800-47813000	Enhancers	NH-A	brain
17	chr7:47810800-47813400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:47811000-47811600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:47811000-47811800	Enhancers	Fetal Muscle Leg	muscle
20	chr7:47811000-47812000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr7:47811000-47812000	Enhancers	Fetal Stomach	stomach
22	chr7:47811000-47812200	Enhancers	Fetal Kidney	kidney
23	chr7:47811000-47812800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr7:47811200-47814400	Enhancers	A549	lung
25	chr7:47811200-47814400	Weak transcription	HSMM	muscle

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