Variant report

Variant	rs7749598
Chromosome Location	chr6:74784755-74784756
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11755457	0.83[EUR][1000 genomes]
rs12213804	0.83[ASN][1000 genomes]
rs13193637	0.95[EUR][1000 genomes]
rs4279395	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6453722	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66472340	0.81[ASN][1000 genomes]
rs66865230	0.83[ASN][1000 genomes]
rs6899867	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6912531	0.81[AFR][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	nsv1030389	chr6:74606701-74811706	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv3394316	chr6:74630005-74935625	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv603733	chr6:74666559-74944460	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv3327625	chr6:74716120-74971605	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv3440413	chr6:74741688-74791357	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv886161	chr6:74765488-74800529	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1017333	chr6:74776830-74907758	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv538307	chr6:74776830-74907758	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74782800-74784800	Enhancers	Osteobl	bone
2	chr6:74782800-74785400	Enhancers	NHEK	skin
3	chr6:74782800-74785800	Enhancers	NHDF-Ad	bronchial
4	chr6:74782800-74786000	Enhancers	Colon Smooth Muscle	Colon
5	chr6:74782800-74786000	Enhancers	HMEC	breast
6	chr6:74782800-74786200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:74783000-74785400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr6:74783000-74785600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:74783000-74786000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr6:74783800-74784800	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr6:74783800-74785400	Enhancers	Adipose Nuclei	Adipose
12	chr6:74784200-74785200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:74784200-74785400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:74784200-74786600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:74784400-74784800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr6:74784600-74784800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:74784600-74785000	Weak transcription	Fetal Muscle Leg	muscle
18	chr6:74784600-74785000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr6:74784600-74785600	Weak transcription	Fetal Stomach	stomach

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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