Variant report

Variant	rs7747811
Chromosome Location	chr6:131019627-131019628
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11753133	0.86[ASN][1000 genomes]
rs12209069	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17059459	0.86[ASN][1000 genomes]
rs17059460	0.86[ASN][1000 genomes]
rs17059464	0.86[ASN][1000 genomes]
rs2030022	0.99[ASN][1000 genomes]
rs4895892	0.92[ASN][1000 genomes]
rs62431630	0.96[ASN][1000 genomes]
rs6569699	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6937163	0.86[EUR][1000 genomes]
rs7745376	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7747747	0.99[ASN][1000 genomes]
rs9483172	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9492699	0.98[ASN][1000 genomes]
rs9492704	0.86[ASN][1000 genomes]
rs994211	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533971	chr6:130490694-131172051	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv830806	chr6:130938330-131107137	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv604664	chr6:131004998-131115817	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv522019	chr6:131017953-131019627	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv2584437	chr6:131019361-131020770	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7747811	ECHDC1	cis	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131018000-131020800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr6:131018400-131029200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr6:131019200-131019800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:131019200-131021200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr6:131019200-131022400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr6:131019200-131023000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr6:131019200-131023000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr6:131019200-131023000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr6:131019400-131020800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr6:131019400-131022800	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr6:131019600-131022400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr6:131019600-131022600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr6:131019600-131023200	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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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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