Variant report

Variant	rs567663
Chromosome Location	chr7:83306889-83306890
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:83176511..83177359-chr7:83306453..83306965,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs172538	0.85[ASN][1000 genomes]
rs302130	0.85[ASN][1000 genomes]
rs489942	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs492201	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs509148	0.94[EUR][1000 genomes]
rs568196	0.94[EUR][1000 genomes]
rs570927	0.85[EUR][1000 genomes]
rs579811	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs613634	0.84[AFR][1000 genomes]
rs646631	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs661014	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017248	chr7:83189888-83385765	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv2753501	chr7:83250118-83336854	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1017237	chr7:83262951-83423389	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2758122	chr7:83300506-83460112	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv2759541	chr7:83300506-83460112	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs567663	NRK	trans	parietal	SCAN
rs567663	GRM3	cis	cerebellum	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83301600-83313400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:83305400-83307800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr7:83305600-83307400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr7:83306000-83308200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr7:83306200-83307000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr7:83306200-83307000	Enhancers	NHEK	skin
7	chr7:83306200-83307200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:83306200-83307200	Enhancers	Muscle Satellite Cultured Cells	--
9	chr7:83306200-83307200	Enhancers	Fetal Lung	lung
10	chr7:83306200-83307200	Enhancers	HMEC	breast
11	chr7:83306200-83307200	Enhancers	HSMM	muscle
12	chr7:83306200-83307400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:83306200-83307400	Enhancers	NH-A	brain
14	chr7:83306200-83307400	Enhancers	Osteobl	bone
15	chr7:83306200-83307600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr7:83306200-83308400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:83306200-83308600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:83306400-83307000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr7:83306400-83307200	Enhancers	Fetal Stomach	stomach
20	chr7:83306400-83307200	Enhancers	Hela-S3	cervix
21	chr7:83306400-83307200	Enhancers	NHLF	lung
22	chr7:83306400-83307600	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr7:83306400-83307600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr7:83306400-83307800	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr7:83306400-83308400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr7:83306600-83307000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr7:83306600-83307000	Enhancers	HSMMtube	muscle
28	chr7:83306600-83307200	Enhancers	Fetal Kidney	kidney
29	chr7:83306600-83307400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr7:83306800-83307200	Enhancers	Placenta	Placenta
31	chr7:83306800-83307200	Enhancers	A549	lung
32	chr7:83306800-83307400	Flanking Active TSS	NHDF-Ad	bronchial

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