Variant report

Variant	rs17135875
Chromosome Location	chr7:102519031-102519032
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	chr7:102517778..102519381-chr7:102714945..102717591,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000161040	Chromatin interaction
ENSG00000170632	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10487281	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10487284	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11496066	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12113073	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12113759	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs17135913	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17135916	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17474893	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2041094	0.82[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2411061	1.00[CHB][hapmap]
rs3893651	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4377880	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4398822	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4610658	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55681588	1.00[ASN][1000 genomes]
rs55781834	1.00[ASN][1000 genomes]
rs56146438	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56186316	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56314487	1.00[ASN][1000 genomes]
rs56692051	1.00[ASN][1000 genomes]
rs6955064	1.00[ASN][1000 genomes]
rs6964296	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6968036	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs727175	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73192015	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73192019	1.00[ASN][1000 genomes]
rs7779854	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7781557	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7790451	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7809047	1.00[CHB][hapmap];1.00[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

Variant related diseases (count:1)

Disease	PMID	Source
Blood pressure measurement (cold pressor test)	24165912	GWAS catalog

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102501200-102530800	Weak transcription	Ovary	ovary
2	chr7:102507400-102519400	Weak transcription	Fetal Kidney	kidney
3	chr7:102508000-102522200	Weak transcription	Fetal Stomach	stomach
4	chr7:102508000-102529200	Weak transcription	Fetal Lung	lung
5	chr7:102513800-102531600	Weak transcription	Fetal Brain Male	brain
6	chr7:102515600-102527400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr7:102516800-102519400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr7:102516800-102519600	Weak transcription	Aorta	Aorta
9	chr7:102516800-102519600	Weak transcription	Pancreas	Pancrea
10	chr7:102516800-102521200	Weak transcription	Esophagus	oesophagus
11	chr7:102516800-102522200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:102516800-102523400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr7:102517000-102519200	Weak transcription	HepG2	liver
14	chr7:102517000-102523400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:102517000-102523400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr7:102517000-102549600	Weak transcription	Gastric	stomach
17	chr7:102517200-102523400	Weak transcription	Stomach Mucosa	stomach
18	chr7:102517200-102529600	Weak transcription	NHLF	lung
19	chr7:102517200-102578200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr7:102517400-102520800	Weak transcription	A549	lung
21	chr7:102517400-102520800	Weak transcription	Hela-S3	cervix
22	chr7:102517400-102523400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr7:102517400-102523600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr7:102517600-102519200	Weak transcription	HSMM	muscle
25	chr7:102517600-102519800	Weak transcription	NHEK	skin
26	chr7:102517600-102523200	Weak transcription	HMEC	breast
27	chr7:102517600-102523400	Weak transcription	NH-A	brain
28	chr7:102517800-102520600	Weak transcription	HUVEC	blood vessel
29	chr7:102517800-102523400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr7:102518600-102519800	Strong transcription	K562	blood

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