Variant report

Variant	rs17362817
Chromosome Location	chr7:69430339-69430340
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	chr7:69418634..69420209-chr7:69430250..69432320,2	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10487941	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17141015	0.90[ASN][1000 genomes]
rs17353017	0.93[AMR][1000 genomes]
rs17361399	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17361448	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17362481	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17363468	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17364237	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17457848	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17458533	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17459271	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17459369	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17459722	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17460898	0.91[ASN][1000 genomes]
rs2191824	0.93[AMR][1000 genomes]
rs57077672	0.85[ASN][1000 genomes]
rs58148320	0.85[ASN][1000 genomes]
rs58974518	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59462226	0.87[ASN][1000 genomes]
rs59797025	0.93[AMR][1000 genomes]
rs60142113	0.82[ASN][1000 genomes]
rs6460531	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6970097	0.93[AMR][1000 genomes]
rs6975213	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7781686	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7790458	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021538	chr7:69130236-69575753	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv538917	chr7:69130236-69575753	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv817276	chr7:69130237-69736834	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1018749	chr7:69149029-69995112	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv492242	chr7:69330737-69520566	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv916265	chr7:69367265-69433076	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1031593	chr7:69367316-69445052	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv538921	chr7:69367316-69445052	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv1018289	chr7:69383450-69650885	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv538922	chr7:69383450-69650885	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv532782	chr7:69383651-70189959	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1034281	chr7:69403828-69548378	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv538923	chr7:69403828-69548378	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv1034182	chr7:69406172-69529294	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv538924	chr7:69406172-69529294	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	esv2758119	chr7:69412504-69594161	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	esv2759536	chr7:69412504-69594161	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69426800-69430400	Enhancers	Primary B cells from peripheral blood	blood
2	chr7:69427800-69432000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr7:69427800-69432200	Weak transcription	Esophagus	oesophagus
4	chr7:69427800-69432200	Weak transcription	Left Ventricle	heart
5	chr7:69427800-69432200	Weak transcription	Lung	lung
6	chr7:69427800-69432400	Weak transcription	Pancreas	Pancrea
7	chr7:69428000-69432000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr7:69428000-69432000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr7:69428000-69432000	Weak transcription	Fetal Brain Male	brain
10	chr7:69428000-69432000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr7:69428000-69432200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:69428000-69432200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:69428000-69432400	Enhancers	Fetal Heart	heart
14	chr7:69428200-69430600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:69428200-69430600	Enhancers	Fetal Thymus	thymus
16	chr7:69428200-69432000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr7:69428200-69432000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr7:69428200-69432000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr7:69428200-69432000	Weak transcription	Brain Substantia Nigra	brain
20	chr7:69428200-69432200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr7:69428200-69432200	Weak transcription	Adipose Nuclei	Adipose
22	chr7:69428200-69432200	Weak transcription	Brain Anterior Caudate	brain
23	chr7:69428200-69432200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr7:69428200-69432200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr7:69428200-69432400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr7:69428400-69432200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr7:69428400-69432200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr7:69428600-69431200	Weak transcription	Fetal Kidney	kidney
29	chr7:69428600-69431600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:69428600-69431600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr7:69428600-69431800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr7:69428600-69432000	Weak transcription	Colon Smooth Muscle	Colon
33	chr7:69428600-69432000	Weak transcription	Fetal Brain Female	brain
34	chr7:69428600-69432000	Weak transcription	Fetal Muscle Leg	muscle
35	chr7:69428600-69432200	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr7:69428600-69432200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:69428600-69432200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr7:69428600-69432200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr7:69428600-69432200	Weak transcription	Psoas Muscle	Psoas
40	chr7:69428600-69432200	Weak transcription	Right Atrium	heart
41	chr7:69428600-69432200	Weak transcription	Right Ventricle	heart
42	chr7:69428600-69432600	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr7:69428800-69430800	Enhancers	Thymus	Thymus
44	chr7:69428800-69431600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr7:69428800-69432000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr7:69428800-69432200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr7:69428800-69432600	Weak transcription	Aorta	Aorta
48	chr7:69429000-69431200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr7:69429000-69431800	Weak transcription	Fetal Lung	lung
50	chr7:69429000-69432200	Weak transcription	Brain Hippocampus Middle	brain

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