Variant report

Variant	rs7207559
Chromosome Location	chr17:53531803-53531804
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:53531311..53533412-chr17:53556307..53558354,2	K562	blood:
2	chr17:53530451..53532494-chr17:53589398..53591044,2	MCF-7	breast:
3	chr17:53525201..53529614-chr17:53530213..53534164,4	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs10852975	1.00[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.85[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11079174	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11651780	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12939438	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12940283	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4312363	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4793796	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7209034	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7211104	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7213973	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8070676	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9303369	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];0.94[JPT][hapmap];0.97[LWK][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9303370	0.82[JPT][hapmap]
rs9899662	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9914970	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.81[YRI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv2100	chr17:53492380-54328516	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1062337	chr17:53510996-54161442	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7207559	MMD	cis	parietal	SCAN
rs7207559	RSAD1	cis	cerebellum	SCAN
rs7207559	ANKFN1	cis	cerebellum	SCAN
rs7207559	TOM1L1	cis	cerebellum	SCAN

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:53524000-53534000	Enhancers	HepG2	liver
2	chr17:53525800-53534600	Enhancers	Hela-S3	cervix
3	chr17:53526000-53534400	Enhancers	Adipose Nuclei	Adipose
4	chr17:53527000-53532800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr17:53527800-53533200	Enhancers	Colon Smooth Muscle	Colon
6	chr17:53528000-53532600	Enhancers	Rectal Smooth Muscle	rectum
7	chr17:53528000-53534400	Enhancers	NHLF	lung
8	chr17:53528200-53536800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr17:53528400-53533000	Enhancers	Liver	Liver
10	chr17:53528400-53534600	Enhancers	NHDF-Ad	bronchial
11	chr17:53528400-53536400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr17:53528800-53532400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr17:53528800-53532800	Weak transcription	Fetal Intestine Large	intestine
14	chr17:53528800-53532800	Enhancers	Osteobl	bone
15	chr17:53528800-53533800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr17:53528800-53535800	Weak transcription	Small Intestine	intestine
17	chr17:53528800-53536400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr17:53529000-53532600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr17:53529400-53532200	Weak transcription	Colonic Mucosa	Colon
20	chr17:53529400-53532800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr17:53529800-53533200	Enhancers	K562	blood
22	chr17:53530000-53532000	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr17:53530000-53534000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr17:53530200-53532400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr17:53530200-53532600	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr17:53530200-53533200	Enhancers	Fetal Lung	lung
27	chr17:53530200-53535600	Weak transcription	NH-A	brain
28	chr17:53530400-53533800	Weak transcription	Duodenum Mucosa	Duodenum
29	chr17:53530400-53544000	Weak transcription	Fetal Kidney	kidney
30	chr17:53530600-53532000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr17:53530600-53532800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr17:53530600-53532800	Weak transcription	Fetal Muscle Leg	muscle
33	chr17:53530600-53533600	Weak transcription	HUVEC	blood vessel
34	chr17:53530600-53535800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr17:53530600-53535800	Weak transcription	Right Ventricle	heart
36	chr17:53530600-53536000	Weak transcription	GM12878-XiMat	blood
37	chr17:53530800-53535600	Weak transcription	HMEC	breast
38	chr17:53531000-53532400	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr17:53531000-53532400	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr17:53531000-53532600	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr17:53531000-53533000	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr17:53531200-53532400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr17:53531200-53532600	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr17:53531200-53532600	Enhancers	H1 Cell Line	embryonic stem cell
45	chr17:53531200-53532600	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr17:53531200-53532600	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr17:53531400-53532200	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr17:53531400-53532400	Weak transcription	Placenta	Placenta
49	chr17:53531400-53532400	Weak transcription	Fetal Stomach	stomach
50	chr17:53531400-53532800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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