Variant report

Variant	rs12936763
Chromosome Location	chr17:63084805-63084806
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12450951	0.83[ASN][1000 genomes]
rs12453373	0.85[ASN][1000 genomes]
rs12953276	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4791236	0.82[ASN][1000 genomes]
rs6504277	0.81[ASN][1000 genomes]
rs7215482	0.82[ASN][1000 genomes]
rs8076603	0.87[JPT][hapmap]
rs9893064	0.94[ASN][1000 genomes]
rs9907990	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9908587	0.81[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066765	chr17:62649313-63124303	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv530764	chr17:62939944-63278472	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12936763	TTC30B	trans	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:63081600-63085200	Enhancers	Duodenum Mucosa	Duodenum
2	chr17:63081600-63085200	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr17:63082200-63088400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr17:63082200-63096400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr17:63082400-63087200	Weak transcription	Right Atrium	heart
6	chr17:63082800-63085000	Weak transcription	Adipose Nuclei	Adipose
7	chr17:63082800-63095400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr17:63082800-63095400	Weak transcription	Small Intestine	intestine
9	chr17:63083800-63086000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr17:63083800-63086000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr17:63083800-63086000	Enhancers	NHEK	skin
12	chr17:63083800-63086200	Enhancers	HMEC	breast
13	chr17:63083800-63087000	Enhancers	Placenta	Placenta
14	chr17:63084000-63086000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr17:63084400-63085000	Enhancers	Stomach Mucosa	stomach
16	chr17:63084600-63085600	Enhancers	A549	lung
17	chr17:63084800-63085200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr17:63084800-63086000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr17:63084800-63088600	Weak transcription	Rectal Mucosa Donor 29	rectum

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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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