Variant report

Variant	rs7777319
Chromosome Location	chr7:102803220-102803221
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11489600	0.90[JPT][hapmap]
rs11772383	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12667428	0.80[AMR][1000 genomes]
rs13228258	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs2074624	0.83[CEU][hapmap];0.84[CHB][hapmap];0.91[JPT][hapmap];0.84[YRI][hapmap]
rs4729905	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs4729907	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap]
rs4729909	0.90[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap]
rs62480135	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6465906	0.88[ASN][1000 genomes]
rs6963104	0.89[CHB][hapmap];0.86[JPT][hapmap]
rs6978630	0.83[YRI][hapmap]

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	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
2	nsv831084	chr7:102778908-102964970	Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv966873	chr7:102798505-102805358	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv3403436	chr7:102798516-102803314	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv608063	chr7:102800697-102807435	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv608064	chr7:102800799-102807435	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7777319	RP11-401L13.5	cis	Thyroid	GTEx

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102801600-102803400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr7:102802000-102804800	Enhancers	Muscle Satellite Cultured Cells	--
3	chr7:102802200-102803600	Enhancers	Fetal Intestine Small	intestine
4	chr7:102802400-102803600	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr7:102802400-102804600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr7:102802400-102804600	Enhancers	NH-A	brain
7	chr7:102802600-102803800	Enhancers	NHEK	skin
8	chr7:102803000-102803600	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr7:102803200-102803400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:102803200-102803600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:102803200-102803600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:102803200-102803600	Enhancers	Adipose Nuclei	Adipose
13	chr7:102803200-102803600	Enhancers	Gastric	stomach
14	chr7:102803200-102803600	Flanking Active TSS	Osteobl	bone
15	chr7:102803200-102803800	Enhancers	Fetal Intestine Large	intestine
16	chr7:102803200-102804000	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr7:102803200-102804000	Enhancers	NHDF-Ad	bronchial

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Input of quick search could be:

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

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