Variant report

Variant	rs17158773
Chromosome Location	chr7:83878364-83878365
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:83875965..83878542-chr7:83880011..83883471,3	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1006794	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10240629	0.96[AFR][1000 genomes]
rs10254748	0.96[AFR][1000 genomes]
rs11974097	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11976376	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11977024	0.96[AFR][1000 genomes]
rs11982998	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17158745	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17158769	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17158787	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17158792	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17158800	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17158801	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17158808	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17158810	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17158823	0.96[AFR][1000 genomes]
rs2158321	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28386953	0.96[AFR][1000 genomes]
rs55898411	0.96[AFR][1000 genomes]
rs56672504	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59179675	0.96[AFR][1000 genomes]
rs61237876	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73709790	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73709791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73709793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73709795	0.86[AFR][1000 genomes]
rs73709796	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73709797	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73709798	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73709802	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73711503	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73711506	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73711507	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73711509	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73711511	0.96[AFR][1000 genomes]
rs73711513	0.96[AFR][1000 genomes]
rs73711515	0.96[AFR][1000 genomes]
rs73711516	0.96[AFR][1000 genomes]
rs73711517	0.96[AFR][1000 genomes]
rs73711519	0.96[AFR][1000 genomes]
rs73712709	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73712713	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529344	chr7:83714286-84592857	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv888629	chr7:83722691-83896025	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1017884	chr7:83724138-83972995	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv538995	chr7:83724138-83972995	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv2754468	chr7:83851249-84166749	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv5818	chr7:83874968-83919804	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83875200-83879600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr7:83875400-83880600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:83875800-83893800	Weak transcription	NHDF-Ad	bronchial
4	chr7:83876800-83878400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:83876800-83881000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr7:83877000-83878400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:83877000-83878400	Enhancers	Rectal Smooth Muscle	rectum
8	chr7:83877000-83879600	Weak transcription	NH-A	brain
9	chr7:83877000-83880000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:83877200-83879200	Enhancers	Primary B cells from cord blood	blood
11	chr7:83877400-83878600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr7:83877400-83880200	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr7:83877400-83880800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:83877600-83878600	Enhancers	Primary hematopoietic stem cells	blood
15	chr7:83877800-83878400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr7:83877800-83878400	Enhancers	Fetal Lung	lung
17	chr7:83877800-83878600	Enhancers	GM12878-XiMat	blood
18	chr7:83877800-83878800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:83877800-83879200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:83877800-83880000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr7:83877800-83880600	Weak transcription	NHLF	lung
22	chr7:83878000-83878400	Enhancers	Fetal Muscle Leg	muscle
23	chr7:83878000-83878600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr7:83878200-83878400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:83878200-83878400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr7:83878200-83878400	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr7:83878200-83878600	Enhancers	Colon Smooth Muscle	Colon

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