Variant report

Variant	rs7792678
Chromosome Location	chr7:11498778-11498779
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10224154	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10224183	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10950347	0.90[CHB][hapmap];0.92[JPT][hapmap]
rs11979605	0.92[CHB][hapmap];0.92[JPT][hapmap];0.85[ASN][1000 genomes]
rs12055997	0.81[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs17164600	0.91[CHB][hapmap];0.92[JPT][hapmap];0.85[ASN][1000 genomes]
rs2189351	0.92[CHB][hapmap];0.82[JPT][hapmap]
rs2301743	0.93[CHB][hapmap]
rs40244	0.92[CHB][hapmap];0.83[JPT][hapmap]
rs4351330	0.92[CHB][hapmap];0.83[JPT][hapmap]
rs6460812	0.93[CHB][hapmap];0.93[JPT][hapmap]
rs6460814	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs6962687	0.92[CHB][hapmap]
rs73284705	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73284709	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73284711	0.90[ASN][1000 genomes]
rs757234	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs7777246	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs7794215	0.91[CEU][hapmap]
rs7796686	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7803385	0.91[CHB][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs7807369	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.97[ASN][1000 genomes]
rs7811128	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs7811849	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024171	chr7:10810444-11559156	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv817291	chr7:10875417-11562683	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers 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 target site	30 gene(s)	inside rSNPs	diseases
3	nsv1028326	chr7:11221209-11754436	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv538733	chr7:11221209-11754436	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv830902	chr7:11336527-11523904	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv830903	chr7:11384957-11586376	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1023665	chr7:11457493-11773517	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv887606	chr7:11473561-11771288	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11464800-11513400	Weak transcription	Fetal Kidney	kidney
2	chr7:11468800-11500200	Weak transcription	Pancreas	Pancrea
3	chr7:11480400-11523200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr7:11487200-11500000	Weak transcription	Placenta	Placenta
5	chr7:11490800-11515800	Weak transcription	Fetal Stomach	stomach
6	chr7:11494600-11499200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr7:11495600-11499400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:11496600-11500400	Enhancers	Hela-S3	cervix
9	chr7:11497200-11499200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:11497200-11499200	Enhancers	NHEK	skin
11	chr7:11498000-11499000	Enhancers	Dnd41	blood
12	chr7:11498000-11499200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:11498000-11499200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr7:11498200-11498800	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr7:11498200-11498800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:11498200-11499000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:11498200-11499000	Enhancers	HMEC	breast
18	chr7:11498200-11499000	Enhancers	NHDF-Ad	bronchial
19	chr7:11498200-11499200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:11498200-11499200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr7:11498200-11499200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr7:11498400-11498800	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr7:11498400-11498800	Enhancers	HSMM	muscle
24	chr7:11498400-11499200	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr7:11498400-11499200	Flanking Active TSS	A549	lung
26	chr7:11498600-11498800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:11498600-11499000	Enhancers	Stomach Mucosa	stomach
28	chr7:11498600-11499200	Enhancers	NH-A	brain
29	chr7:11498600-11499600	Enhancers	HUVEC	blood vessel
30	chr7:11498600-11499800	Weak transcription	Fetal Lung	lung
31	chr7:11498600-11501200	Weak transcription	Fetal Intestine Small	intestine
32	chr7:11498600-11519800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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