Variant report

Variant	rs16973904
Chromosome Location	chr17:67306694-67306695
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	chr17:67306645..67309454-chr17:67315201..67317494,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11544715	1.00[JPT][hapmap]
rs13313572	1.00[JPT][hapmap]
rs1345462	1.00[JPT][hapmap]
rs1468512	1.00[CHB][hapmap]
rs17686569	1.00[JPT][hapmap]
rs17759819	1.00[JPT][hapmap];0.80[YRI][hapmap]
rs1992741	1.00[JPT][hapmap]
rs477045	1.00[JPT][hapmap]
rs536009	1.00[JPT][hapmap]
rs56389663	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6501290	1.00[JPT][hapmap]
rs6501328	1.00[JPT][hapmap]
rs8064431	1.00[JPT][hapmap]
rs9302900	1.00[JPT][hapmap]
rs9907148	1.00[JPT][hapmap];0.80[YRI][hapmap]
rs9909726	1.00[JPT][hapmap]
rs997639	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 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
9	esv1799828	chr17:67280310-67309039	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
10	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
11	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:72 , 50 per page) page: 1 2

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	chr17:67266200-67310400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr17:67270200-67307400	Weak transcription	Colonic Mucosa	Colon
5	chr17:67276400-67310600	Weak transcription	Brain Substantia Nigra	brain
6	chr17:67276600-67308800	Weak transcription	Aorta	Aorta
7	chr17:67279400-67308000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr17:67280000-67307200	Weak transcription	Fetal Thymus	thymus
9	chr17:67283800-67312800	Weak transcription	HMEC	breast
10	chr17:67284000-67312800	Weak transcription	NHEK	skin
11	chr17:67284600-67309200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr17:67285000-67316200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr17:67289600-67307000	Weak transcription	Spleen	Spleen
14	chr17:67289600-67307600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr17:67289600-67310400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr17:67289800-67310400	Weak transcription	Brain Anterior Caudate	brain
17	chr17:67289800-67310800	Weak transcription	Colon Smooth Muscle	Colon
18	chr17:67289800-67312800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr17:67290000-67308200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr17:67290000-67310600	Weak transcription	Brain Angular Gyrus	brain
21	chr17:67290000-67311000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr17:67290000-67311000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr17:67290000-67317400	Weak transcription	Gastric	stomach
24	chr17:67290200-67306800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr17:67290200-67308000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr17:67290200-67319600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr17:67290600-67309200	Weak transcription	Lung	lung
28	chr17:67290600-67312800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr17:67291800-67309400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr17:67291800-67313800	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr17:67291800-67321800	Weak transcription	Esophagus	oesophagus
32	chr17:67293200-67315600	Weak transcription	GM12878-XiMat	blood
33	chr17:67294000-67310600	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr17:67295800-67307600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr17:67296600-67310600	Weak transcription	Ovary	ovary
36	chr17:67296800-67308800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr17:67297000-67310600	Weak transcription	Fetal Kidney	kidney
38	chr17:67297000-67319400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr17:67297000-67321800	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr17:67297800-67307600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr17:67302600-67308600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr17:67303600-67307200	Strong transcription	Adipose Nuclei	Adipose
43	chr17:67303800-67310800	Weak transcription	HepG2	liver
44	chr17:67304000-67310600	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr17:67304200-67321800	Weak transcription	HUVEC	blood vessel
46	chr17:67304400-67309600	Weak transcription	Fetal Stomach	stomach
47	chr17:67304800-67307600	Strong transcription	NHDF-Ad	bronchial
48	chr17:67305000-67307200	Strong transcription	Liver	Liver
49	chr17:67305200-67307200	Strong transcription	Fetal Intestine Large	intestine
50	chr17:67305200-67321600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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