Variant report

Variant	rs523505
Chromosome Location	chr17:67272778-67272779
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:67266447..67268374-chr17:67272475..67274027,2	MCF-7	breast:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10445224	0.81[ASN][1000 genomes]
rs10512527	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11077445	0.84[ASN][1000 genomes]
rs11651815	0.84[ASN][1000 genomes]
rs11651872	0.84[ASN][1000 genomes]
rs11654323	0.84[ASN][1000 genomes]
rs11656389	0.83[ASN][1000 genomes]
rs11869324	0.84[ASN][1000 genomes]
rs12449649	0.84[ASN][1000 genomes]
rs12450167	0.84[ASN][1000 genomes]
rs12450522	0.82[ASN][1000 genomes]
rs12450743	0.84[ASN][1000 genomes]
rs12452340	0.82[ASN][1000 genomes]
rs12938064	0.82[ASN][1000 genomes]
rs12941297	0.82[ASN][1000 genomes]
rs12943504	0.84[ASN][1000 genomes]
rs12945481	0.84[ASN][1000 genomes]
rs12946566	0.83[ASN][1000 genomes]
rs12949267	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12952942	0.84[ASN][1000 genomes]
rs1468513	0.80[EUR][1000 genomes]
rs1550828	0.84[ASN][1000 genomes]
rs1990248	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2364996	0.83[ASN][1000 genomes]
rs2441358	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34334829	0.84[ASN][1000 genomes]
rs34609440	0.84[ASN][1000 genomes]
rs476677	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs481876	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs486840	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs488714	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs494946	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs544940	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs557491	0.84[ASN][1000 genomes]
rs55773491	0.84[ASN][1000 genomes]
rs568536	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57949169	0.83[ASN][1000 genomes]
rs7213377	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7223895	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs817126	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs817127	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9646388	0.84[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	nsv575932	chr17:67149973-67327806	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv457889	chr17:67210992-67332355	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	n/a
3	nsv575934	chr17:67210992-67332355	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	n/a
4	nsv833527	chr17:67240575-67400871	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv575935	chr17:67256162-67327806	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a
6	nsv457890	chr17:67264339-67327806	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a
7	nsv575936	chr17:67264339-67327806	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a
8	nsv1063768	chr17:67268342-67311136	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67235000-67289000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr17:67236000-67283000	Weak transcription	Ovary	ovary
3	chr17:67236400-67278000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr17:67236800-67280800	Weak transcription	Brain Angular Gyrus	brain
5	chr17:67236800-67298800	Weak transcription	Psoas Muscle	Psoas
6	chr17:67238800-67278000	Weak transcription	Thymus	Thymus
7	chr17:67240000-67289200	Weak transcription	Esophagus	oesophagus
8	chr17:67240000-67296000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr17:67242400-67289400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr17:67243600-67305600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr17:67244000-67321800	Weak transcription	Right Ventricle	heart
12	chr17:67245800-67278000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr17:67248000-67284400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr17:67249000-67278400	Weak transcription	Fetal Intestine Small	intestine
15	chr17:67250000-67289200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr17:67250200-67280800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr17:67250800-67277800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr17:67251200-67279000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr17:67251400-67273000	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr17:67251400-67277600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr17:67251400-67277800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr17:67251400-67278000	Weak transcription	Primary T cells from cord blood	blood
23	chr17:67251600-67274000	Weak transcription	GM12878-XiMat	blood
24	chr17:67251600-67278200	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr17:67251600-67289200	Weak transcription	Brain Anterior Caudate	brain
26	chr17:67253200-67278200	Weak transcription	Placenta	Placenta
27	chr17:67257600-67278000	Weak transcription	Adipose Nuclei	Adipose
28	chr17:67261000-67273000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr17:67261400-67279200	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr17:67261400-67322000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr17:67265000-67277600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr17:67265000-67289200	Weak transcription	Lung	lung
33	chr17:67265000-67289800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr17:67265600-67279000	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr17:67265800-67277800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr17:67265800-67278000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr17:67266000-67278000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr17:67266000-67282400	Weak transcription	HMEC	breast
39	chr17:67266200-67274000	Weak transcription	Liver	Liver
40	chr17:67266200-67277800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr17:67266200-67282000	Weak transcription	Hela-S3	cervix
42	chr17:67266200-67290000	Weak transcription	Fetal Heart	heart
43	chr17:67266200-67310400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr17:67266400-67278000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr17:67266600-67282000	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr17:67266800-67282400	Weak transcription	NHDF-Ad	bronchial
47	chr17:67267600-67283400	Weak transcription	HUVEC	blood vessel
48	chr17:67267800-67279000	Weak transcription	Colon Smooth Muscle	Colon
49	chr17:67268600-67295400	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr17:67269800-67274000	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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