Variant report

Variant	rs17135892
Chromosome Location	chr7:102529597-102529598
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	chr7:102529179..102531129-chr7:102713390..102716151,2	MCF-7	breast:
2	chr7:102527046..102528879-chr7:102528977..102531238,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170632	Chromatin interaction
ENSG00000161040	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10239162	1.00[EUR][1000 genomes]
rs10487282	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11557393	0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17135896	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17135898	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17135912	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17136074	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17136084	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17136087	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17136100	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17136106	1.00[CHB][hapmap];0.89[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17136118	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17136121	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17136125	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17136131	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2228687	1.00[JPT][hapmap]
rs2411057	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs41438745	0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs61047356	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6963884	1.00[MEX][hapmap]
rs7810924	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs917332	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs917333	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs979936	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[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	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv868996	chr7:102332827-102991361	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	esv2752138	chr7:102358320-102787135	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv470382	chr7:102375663-102538515	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv608057	chr7:102440184-102538515	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv608058	chr7:102466741-102571713	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv464667	chr7:102486254-102624192	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
9	nsv608060	chr7:102486254-102624192	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
10	nsv5880	chr7:102505158-102550471	Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102501200-102530800	Weak transcription	Ovary	ovary
2	chr7:102513800-102531600	Weak transcription	Fetal Brain Male	brain
3	chr7:102517000-102549600	Weak transcription	Gastric	stomach
4	chr7:102517200-102529600	Weak transcription	NHLF	lung
5	chr7:102517200-102578200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr7:102522600-102529600	Weak transcription	Fetal Stomach	stomach
7	chr7:102522600-102549200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:102524200-102529600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr7:102526000-102530800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr7:102527600-102530800	Strong transcription	K562	blood
11	chr7:102528000-102531000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr7:102528200-102530400	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr7:102528200-102530800	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr7:102528200-102530800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:102528400-102530400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr7:102528600-102530400	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr7:102528600-102530800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:102528600-102534000	Enhancers	HUVEC	blood vessel
19	chr7:102528800-102529800	Enhancers	Stomach Mucosa	stomach
20	chr7:102529000-102529600	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr7:102529000-102529600	Enhancers	HepG2	liver
22	chr7:102529000-102529800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:102529000-102530800	Enhancers	Muscle Satellite Cultured Cells	--
24	chr7:102529000-102535600	Weak transcription	Right Atrium	heart
25	chr7:102529200-102530800	Enhancers	Fetal Lung	lung
26	chr7:102529400-102529600	Flanking Active TSS	A549	lung

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