Variant report

Variant	rs1011549
Chromosome Location	chr17:67297674-67297675
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:67296567..67298509-chr17:67301051..67302753,2	MCF-7	breast:

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10445224	0.90[ASN][1000 genomes]
rs10491177	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10512526	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10512527	0.83[ASN][1000 genomes]
rs11077445	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11649744	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11650658	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11650955	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11651815	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11651872	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11652207	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11654323	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11656389	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11656456	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11869324	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11871771	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12449649	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12450167	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12450402	0.81[ASN][1000 genomes]
rs12450522	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12450743	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12452340	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12937191	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12937947	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12938039	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12938064	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12938097	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12940364	0.93[ASN][1000 genomes]
rs12941297	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12942763	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12942867	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12943504	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12944980	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12945481	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12945908	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12946566	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12946776	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12949267	0.83[ASN][1000 genomes]
rs12952942	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1550828	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1558168	0.86[ASN][1000 genomes]
rs15886	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2364996	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2441358	0.81[ASN][1000 genomes]
rs34334829	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34609440	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34985085	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4310935	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4310936	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs476677	0.89[ASN][1000 genomes]
rs481876	0.80[ASN][1000 genomes]
rs486840	0.82[ASN][1000 genomes]
rs488714	0.88[ASN][1000 genomes]
rs494946	0.89[ASN][1000 genomes]
rs544940	0.82[ASN][1000 genomes]
rs557491	0.90[ASN][1000 genomes]
rs55773491	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs568536	0.82[ASN][1000 genomes]
rs57949169	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58634970	0.83[EUR][1000 genomes]
rs7213377	0.83[ASN][1000 genomes]
rs7225762	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs817127	0.80[ASN][1000 genomes]
rs9646388	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67236800-67298800	Weak transcription	Psoas Muscle	Psoas
2	chr17:67243600-67305600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr17:67244000-67321800	Weak transcription	Right Ventricle	heart
4	chr17:67261400-67322000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr17:67266200-67310400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr17:67270200-67307400	Weak transcription	Colonic Mucosa	Colon
7	chr17:67271000-67298600	Weak transcription	Fetal Lung	lung
8	chr17:67272400-67306400	Weak transcription	Primary B cells from peripheral blood	blood
9	chr17:67276400-67310600	Weak transcription	Brain Substantia Nigra	brain
10	chr17:67276600-67308800	Weak transcription	Aorta	Aorta
11	chr17:67279400-67308000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr17:67279600-67306400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr17:67280000-67307200	Weak transcription	Fetal Thymus	thymus
14	chr17:67283600-67297800	Weak transcription	Stomach Mucosa	stomach
15	chr17:67283600-67304800	Weak transcription	NHDF-Ad	bronchial
16	chr17:67283800-67312800	Weak transcription	HMEC	breast
17	chr17:67284000-67312800	Weak transcription	NHEK	skin
18	chr17:67284200-67301800	Weak transcription	Small Intestine	intestine
19	chr17:67284600-67309200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr17:67285000-67316200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr17:67288400-67299200	Weak transcription	Fetal Intestine Small	intestine
22	chr17:67289600-67307000	Weak transcription	Spleen	Spleen
23	chr17:67289600-67307600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr17:67289600-67310400	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr17:67289800-67303200	Weak transcription	HUVEC	blood vessel
26	chr17:67289800-67310400	Weak transcription	Brain Anterior Caudate	brain
27	chr17:67289800-67310800	Weak transcription	Colon Smooth Muscle	Colon
28	chr17:67289800-67312800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr17:67290000-67299600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr17:67290000-67302400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr17:67290000-67305800	Weak transcription	Thymus	Thymus
32	chr17:67290000-67306200	Weak transcription	Primary T cells from cord blood	blood
33	chr17:67290000-67308200	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr17:67290000-67310600	Weak transcription	Brain Angular Gyrus	brain
35	chr17:67290000-67311000	Weak transcription	Primary hematopoietic stem cells	blood
36	chr17:67290000-67311000	Weak transcription	Rectal Smooth Muscle	rectum
37	chr17:67290000-67317400	Weak transcription	Gastric	stomach
38	chr17:67290200-67306800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr17:67290200-67308000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr17:67290200-67319600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr17:67290400-67305600	Weak transcription	Stomach Smooth Muscle	stomach
42	chr17:67290600-67305200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr17:67290600-67305600	Weak transcription	Pancreas	Pancrea
44	chr17:67290600-67305600	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr17:67290600-67309200	Weak transcription	Lung	lung
46	chr17:67290600-67312800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr17:67291000-67305400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr17:67291800-67305600	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr17:67291800-67309400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr17:67291800-67313800	Weak transcription	Primary T helper cells PMA-I stimulated	--

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