Variant report

Variant	rs17353017
Chromosome Location	chr7:69213452-69213453
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10487949	0.93[AMR][1000 genomes]
rs12164074	1.00[AMR][1000 genomes]
rs17140848	1.00[ASN][1000 genomes]
rs17140871	1.00[ASN][1000 genomes]
rs17141015	0.89[ASN][1000 genomes]
rs17349245	0.93[AMR][1000 genomes]
rs17361399	0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17361448	0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17362481	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17362817	0.93[AMR][1000 genomes]
rs17457848	0.93[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17458533	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17459271	0.93[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17459369	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17459722	0.93[AMR][1000 genomes]
rs2158741	0.93[AMR][1000 genomes]
rs2191824	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2270162	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4140975	0.94[ASN][1000 genomes]
rs55638715	0.93[AMR][1000 genomes]
rs58305621	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58974518	0.93[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs59797025	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6460529	0.84[ASN][1000 genomes]
rs6460531	0.93[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6968472	0.93[AMR][1000 genomes]
rs6970097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6975213	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7781686	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7790458	0.81[AMR][1000 genomes];0.89[ASN][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	nsv916011	chr7:68942155-69330800	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv831021	chr7:69122169-69364491	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	esv3394718	chr7:69194534-69238432	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1027399	chr7:69197011-69239721	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv538918	chr7:69197011-69239721	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69205200-69214200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:69205200-69214400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:69205200-69221000	Weak transcription	Fetal Brain Male	brain
4	chr7:69205200-69221000	Weak transcription	Right Ventricle	heart
5	chr7:69205400-69217000	Weak transcription	Right Atrium	heart
6	chr7:69205800-69214400	Weak transcription	Fetal Muscle Leg	muscle
7	chr7:69206000-69213600	Weak transcription	Fetal Thymus	thymus
8	chr7:69206000-69214400	Weak transcription	Fetal Stomach	stomach
9	chr7:69206000-69217000	Weak transcription	Fetal Brain Female	brain
10	chr7:69206200-69214000	Weak transcription	Thymus	Thymus
11	chr7:69209800-69213800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr7:69210200-69213600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr7:69210200-69214200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr7:69210200-69219800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:69210400-69214200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr7:69210400-69214200	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr7:69210600-69213600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr7:69210600-69214400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr7:69211000-69214000	Weak transcription	Brain Anterior Caudate	brain
20	chr7:69212400-69217000	Weak transcription	Left Ventricle	heart
21	chr7:69213000-69213800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr7:69213000-69214200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr7:69213000-69215200	Enhancers	Fetal Lung	lung
24	chr7:69213000-69215800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:69213200-69213800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr7:69213200-69214400	Enhancers	NHEK	skin
27	chr7:69213200-69215000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:69213200-69215200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr7:69213200-69215200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:69213400-69213600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr7:69213400-69214000	Enhancers	Colon Smooth Muscle	Colon
32	chr7:69213400-69214600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr7:69213400-69214600	Enhancers	HSMMtube	muscle
34	chr7:69213400-69214600	Enhancers	NHDF-Ad	bronchial
35	chr7:69213400-69214800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr7:69213400-69214800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr7:69213400-69214800	Enhancers	Placenta Amnion	Placenta Amnion
38	chr7:69213400-69215200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:69213400-69215400	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr7:69213400-69215800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr7:69213400-69216400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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