Variant report

Variant	rs67740186
Chromosome Location	chr17:67319434-67319435
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	chr17:67319063..67338122-chr17:73766152..73783684,87	MCF-7	breast:

Variant related genes	Relation type
ENSG00000263565	Chromatin interaction
ENSG00000132478	Chromatin interaction
ENSG00000132475	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11544715	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11871086	0.96[EUR][1000 genomes]
rs13313572	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1345462	0.82[EUR][1000 genomes]
rs1420905	0.83[EUR][1000 genomes]
rs17686569	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17759819	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1992741	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs477045	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs536009	0.82[EUR][1000 genomes]
rs57758461	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62080888	0.87[EUR][1000 genomes]
rs62080893	0.99[EUR][1000 genomes]
rs9907148	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9907847	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9909726	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs997639	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv908706	chr17:67290840-67332355	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a
9	nsv575937	chr17:67304447-67327806	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67244000-67321800	Weak transcription	Right Ventricle	heart
2	chr17:67261400-67322000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr17:67290200-67319600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr17:67291800-67321800	Weak transcription	Esophagus	oesophagus
5	chr17:67297000-67321800	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr17:67304200-67321800	Weak transcription	HUVEC	blood vessel
7	chr17:67305200-67321600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr17:67306000-67321800	Weak transcription	Placenta	Placenta
9	chr17:67306400-67321000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr17:67306600-67319600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr17:67307000-67321800	Weak transcription	Left Ventricle	heart
12	chr17:67307000-67321800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr17:67307200-67321800	Weak transcription	Thymus	Thymus
14	chr17:67308000-67321200	Weak transcription	Fetal Intestine Small	intestine
15	chr17:67310200-67321000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr17:67311000-67322000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr17:67311200-67320400	Weak transcription	Pancreas	Pancrea
18	chr17:67311200-67320400	Weak transcription	Psoas Muscle	Psoas
19	chr17:67311200-67321800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr17:67311200-67322000	Weak transcription	Brain Anterior Caudate	brain
21	chr17:67314000-67320400	Weak transcription	HMEC	breast
22	chr17:67314000-67321600	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr17:67314200-67321600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr17:67315800-67321400	Weak transcription	Liver	Liver
25	chr17:67316200-67320400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr17:67316400-67321800	Weak transcription	Osteobl	bone
27	chr17:67316800-67321800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr17:67317000-67320000	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr17:67317000-67321600	Weak transcription	NHDF-Ad	bronchial
30	chr17:67317600-67319800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr17:67318600-67319800	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr17:67318600-67320000	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr17:67318600-67320200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr17:67318600-67320400	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr17:67318800-67319600	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr17:67318800-67321400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr17:67319000-67319600	Enhancers	H1 Cell Line	embryonic stem cell
38	chr17:67319000-67319600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr17:67319000-67319800	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr17:67319000-67319800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr17:67319000-67320000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr17:67319000-67321600	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr17:67319200-67319800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr17:67319200-67321600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr17:67319400-67319600	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr17:67319400-67320400	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr17:67319400-67320400	Enhancers	GM12878-XiMat	blood
48	chr17:67319400-67320800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr17:67319400-67321400	Weak transcription	Fetal Intestine Large	intestine

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