Variant report

Variant	rs17361448
Chromosome Location	chr7:69329478-69329479
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	chr7:69327310..69330427-chr7:69330830..69332820,3	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10487941	1.00[AMR][1000 genomes]
rs17140848	0.94[ASN][1000 genomes]
rs17140871	0.94[ASN][1000 genomes]
rs17141015	0.95[ASN][1000 genomes]
rs17353017	0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17361399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17362481	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17362817	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17363468	0.84[EUR][1000 genomes]
rs17364237	1.00[AMR][1000 genomes]
rs17457848	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17458533	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17459271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17459369	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17459722	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17460898	0.80[ASN][1000 genomes]
rs2191824	0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4140975	0.87[ASN][1000 genomes]
rs58305621	0.93[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs58974518	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59797025	0.93[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6460529	0.84[ASN][1000 genomes]
rs6460531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6970097	0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6975213	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7781686	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7790458	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv532781	chr7:69297250-69330796	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69311400-69371600	Weak transcription	Primary B cells from cord blood	blood
2	chr7:69322000-69330000	Weak transcription	Ovary	ovary
3	chr7:69323600-69331800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:69323800-69330200	Weak transcription	Psoas Muscle	Psoas
5	chr7:69326000-69335800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:69326600-69336200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:69327200-69330400	Enhancers	Fetal Brain Male	brain
8	chr7:69327400-69331400	Enhancers	Brain Germinal Matrix	brain
9	chr7:69327400-69331800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:69327800-69332600	Enhancers	Fetal Brain Female	brain
11	chr7:69328000-69337600	Weak transcription	Primary B cells from peripheral blood	blood
12	chr7:69328600-69330600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:69328600-69331000	Enhancers	Fetal Lung	lung
14	chr7:69328800-69330000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:69328800-69330400	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr7:69328800-69330400	Enhancers	Brain Hippocampus Middle	brain
17	chr7:69328800-69333000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr7:69329000-69329600	Enhancers	NHDF-Ad	bronchial
19	chr7:69329200-69330000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:69329200-69330400	Enhancers	Fetal Muscle Leg	muscle
21	chr7:69329400-69329600	Enhancers	Fetal Stomach	stomach
22	chr7:69329400-69329800	Enhancers	GM12878-XiMat	blood
23	chr7:69329400-69330000	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr7:69329400-69330400	Enhancers	Brain Anterior Caudate	brain

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