Variant report

Variant	rs28393249
Chromosome Location	chr7:102516077-102516078
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:102513883..102516664-chr7:102520756..102522395,2	K562	blood:
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:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10236090	0.96[AFR][1000 genomes]
rs10240915	0.88[AFR][1000 genomes]
rs10259205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1100047	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12671524	1.00[AMR][1000 genomes]
rs1916990	1.00[AMR][1000 genomes]
rs1969429	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2140621	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2177550	1.00[AMR][1000 genomes]
rs2898638	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4255065	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4727558	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6465883	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6958533	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6962336	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6973115	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs847653	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs847654	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs847655	1.00[AMR][1000 genomes]
rs847657	0.82[AFR][1000 genomes]
rs864709	0.85[AFR][1000 genomes];1.00[AMR][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:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102470000-102516400	Weak transcription	Pancreas	Pancrea
2	chr7:102500600-102518400	Weak transcription	Left Ventricle	heart
3	chr7:102501200-102530800	Weak transcription	Ovary	ovary
4	chr7:102502600-102516200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr7:102504800-102516200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:102507400-102519400	Weak transcription	Fetal Kidney	kidney
7	chr7:102508000-102522200	Weak transcription	Fetal Stomach	stomach
8	chr7:102508000-102529200	Weak transcription	Fetal Lung	lung
9	chr7:102512200-102517000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:102512200-102517400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr7:102512200-102517400	Enhancers	Hela-S3	cervix
12	chr7:102512200-102517600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:102512200-102517600	Enhancers	HMEC	breast
14	chr7:102512200-102517600	Enhancers	NHDF-Ad	bronchial
15	chr7:102512400-102516600	Enhancers	HSMMtube	muscle
16	chr7:102512400-102517200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:102512400-102517200	Enhancers	NHLF	lung
18	chr7:102512400-102517400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:102512400-102517400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr7:102512600-102517400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:102512600-102517600	Enhancers	NHEK	skin
22	chr7:102512800-102517400	Enhancers	Osteobl	bone
23	chr7:102512800-102517600	Enhancers	NH-A	brain
24	chr7:102513000-102516800	Enhancers	Placenta Amnion	Placenta Amnion
25	chr7:102513000-102517800	Enhancers	HUVEC	blood vessel
26	chr7:102513400-102517000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:102513400-102517000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr7:102513800-102516800	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr7:102513800-102517200	Enhancers	Stomach Mucosa	stomach
30	chr7:102513800-102531600	Weak transcription	Fetal Brain Male	brain
31	chr7:102514000-102516400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr7:102514000-102516800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr7:102514000-102516800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr7:102514400-102517000	Enhancers	HepG2	liver
35	chr7:102514800-102516800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr7:102515000-102518400	Weak transcription	Primary T cells from cord blood	blood
37	chr7:102515400-102516800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr7:102515600-102516800	Enhancers	Aorta	Aorta
39	chr7:102515600-102527400	Weak transcription	Primary hematopoietic stem cells	blood
40	chr7:102515800-102516200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr7:102515800-102516200	Flanking Active TSS	HSMM	muscle
42	chr7:102515800-102516400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr7:102515800-102517000	Enhancers	Gastric	stomach
44	chr7:102515800-102518200	Weak transcription	Primary B cells from cord blood	blood
45	chr7:102516000-102517000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr7:102516000-102517000	Flanking Active TSS	A549	lung
47	chr7:102516000-102517000	Genic enhancers	K562	blood

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