Variant report

Variant	rs10248592
Chromosome Location	chr7:26708097-26708098
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:26705980..26708801-chr7:26709230..26711204,3	K562	blood:
2	chr7:26416040..26417569-chr7:26706693..26708540,2	MCF-7	breast:
3	chr7:26705980..26708801-chr7:26709438..26711204,2	K562	blood:
4	chr7:26407856..26408734-chr7:26707178..26708194,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000225792	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10225860	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs10229696	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10231663	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10238303	0.92[YRI][hapmap]
rs10244449	1.00[MEX][hapmap]
rs10258711	1.00[MEX][hapmap]
rs10258868	1.00[MEX][hapmap]
rs10262511	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs10265922	0.81[AFR][1000 genomes]
rs10270501	1.00[YRI][hapmap]
rs10271515	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10277397	0.81[AFR][1000 genomes]
rs10277439	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10486472	0.84[AFR][1000 genomes]
rs17154248	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17154291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17154295	1.00[MEX][hapmap]
rs17154348	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4722629	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs6964094	0.84[YRI][hapmap]
rs7808068	0.92[YRI][hapmap];0.83[AFR][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	nsv1029596	chr7:26302739-26737913	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv538804	chr7:26302739-26737913	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv1025538	chr7:26482342-27376045	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
4	nsv538805	chr7:26482342-27376045	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
5	nsv830929	chr7:26587888-26749735	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv1020378	chr7:26679880-26733872	Bivalent Enhancer Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26678800-26715400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr7:26679400-26710000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr7:26703400-26709600	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr7:26704800-26712800	Weak transcription	Primary B cells from cord blood	blood
5	chr7:26705000-26714600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:26705000-26714600	Weak transcription	NHLF	lung
7	chr7:26705000-26716000	Weak transcription	Primary B cells from peripheral blood	blood
8	chr7:26705000-26759600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr7:26706800-26708200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr7:26707000-26709600	Enhancers	Primary hematopoietic stem cells	blood
11	chr7:26707200-26721800	Weak transcription	Fetal Lung	lung
12	chr7:26707400-26714600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:26707400-26715600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:26707600-26710200	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr7:26707600-26711200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:26707600-26714400	Weak transcription	NHEK	skin
17	chr7:26707600-26714800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:26707600-26719000	Weak transcription	Fetal Kidney	kidney
19	chr7:26707800-26708600	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr7:26707800-26709200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr7:26707800-26709800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:26707800-26716400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr7:26708000-26708800	Strong transcription	Primary neutrophils fromperipheralblood	blood

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