Variant report

Variant	rs917333
Chromosome Location	chr7:102516871-102516872
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:102516404..102517929-chr7:102714703..102716697,2	MCF-7	breast:
2	chr7:102501221..102503373-chr7:102515985..102518701,2	MCF-7	breast:
3	chr7:102510827..102513027-chr7:102515036..102518141,3	K562	blood:
4	chr7:102503409..102506375-chr7:102514987..102518844,3	K562	blood:

Variant related genes	Relation type
ENSG00000170632	Chromatin interaction
ENSG00000161040	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

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];0.88[ASN][1000 genomes]
rs11557393	0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17135873	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs17135892	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]
rs17135896	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[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];0.97[ASN][1000 genomes]
rs17135912	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[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];0.86[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];0.88[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];0.88[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];0.91[ASN][1000 genomes]
rs17136106	1.00[CHB][hapmap];0.89[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17136118	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[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];0.88[ASN][1000 genomes]
rs17136125	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17136131	1.00[ASW][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.86[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2228687	1.00[JPT][hapmap]
rs2411057	0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs41438745	1.00[ASW][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[MKK][hapmap]
rs61047356	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6963884	1.00[MEX][hapmap]
rs7341522	0.83[AFR][1000 genomes]
rs7810924	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs917332	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs979936	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102500600-102518400	Weak transcription	Left Ventricle	heart
2	chr7:102501200-102530800	Weak transcription	Ovary	ovary
3	chr7:102507400-102519400	Weak transcription	Fetal Kidney	kidney
4	chr7:102508000-102522200	Weak transcription	Fetal Stomach	stomach
5	chr7:102508000-102529200	Weak transcription	Fetal Lung	lung
6	chr7:102512200-102517000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:102512200-102517400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr7:102512200-102517400	Enhancers	Hela-S3	cervix
9	chr7:102512200-102517600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:102512200-102517600	Enhancers	HMEC	breast
11	chr7:102512200-102517600	Enhancers	NHDF-Ad	bronchial
12	chr7:102512400-102517200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr7:102512400-102517200	Enhancers	NHLF	lung
14	chr7:102512400-102517400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:102512400-102517400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:102512600-102517400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:102512600-102517600	Enhancers	NHEK	skin
18	chr7:102512800-102517400	Enhancers	Osteobl	bone
19	chr7:102512800-102517600	Enhancers	NH-A	brain
20	chr7:102513000-102517800	Enhancers	HUVEC	blood vessel
21	chr7:102513400-102517000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:102513400-102517000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr7:102513800-102517200	Enhancers	Stomach Mucosa	stomach
24	chr7:102513800-102531600	Weak transcription	Fetal Brain Male	brain
25	chr7:102514400-102517000	Enhancers	HepG2	liver
26	chr7:102515000-102518400	Weak transcription	Primary T cells from cord blood	blood
27	chr7:102515600-102527400	Weak transcription	Primary hematopoietic stem cells	blood
28	chr7:102515800-102517000	Enhancers	Gastric	stomach
29	chr7:102515800-102518200	Weak transcription	Primary B cells from cord blood	blood
30	chr7:102516000-102517000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr7:102516000-102517000	Flanking Active TSS	A549	lung
32	chr7:102516000-102517000	Genic enhancers	K562	blood
33	chr7:102516200-102517200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr7:102516600-102517000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr7:102516600-102517800	Weak transcription	Lung	lung
36	chr7:102516600-102518400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr7:102516800-102517000	Enhancers	HSMMtube	muscle
38	chr7:102516800-102517600	Genic enhancers	HSMM	muscle
39	chr7:102516800-102519400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr7:102516800-102519600	Weak transcription	Aorta	Aorta
41	chr7:102516800-102519600	Weak transcription	Pancreas	Pancrea
42	chr7:102516800-102521200	Weak transcription	Esophagus	oesophagus
43	chr7:102516800-102522200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr7:102516800-102523400	Weak transcription	Placenta Amnion	Placenta Amnion

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