Variant report

Variant	rs749515
Chromosome Location	chr6:49497247-49497248
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:49496662..49499148-chr6:49504162..49506503,2	K562	blood:
2	chr6:49490212..49493112-chr6:49495584..49498171,4	MCF-7	breast:
3	chr6:49496391..49497918-chr6:49517577..49519472,2	MCF-7	breast:
4	chr6:49490843..49493416-chr6:49495370..49497903,2	MCF-7	breast:
5	chr6:49491433..49493267-chr6:49495849..49497648,2	K562	blood:
6	chr6:49493637..49498162-chr6:49501160..49505862,5	K562	blood:
7	chr6:49493393..49496049-chr6:49496487..49500188,3	K562	blood:
8	chr6:49495608..49498128-chr6:49917488..49919733,2	K562	blood:

No data

No data

No data

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs13196352	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13197588	0.80[CEU][hapmap];0.89[CHB][hapmap];0.89[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.94[ASN][1000 genomes]
rs13199703	0.81[AMR][1000 genomes]
rs13206340	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2127758	0.88[ASN][1000 genomes]
rs4715135	0.96[ASN][1000 genomes]
rs4715136	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9463500	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9463501	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024959	chr6:49290141-49652124	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1021136	chr6:49295037-49631278	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv885881	chr6:49439805-49575141	Weak transcription Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv933942	chr6:49480550-50004231	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs749515	C6orf141	cis	cerebellum	SCAN
rs749515	MUT	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:49495400-49499600	Weak transcription	HepG2	liver
2	chr6:49495400-49500000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr6:49496400-49499600	Weak transcription	Liver	Liver
4	chr6:49496600-49498000	Weak transcription	HMEC	breast
5	chr6:49496600-49500000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr6:49496600-49500000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr6:49496800-49508400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:49497000-49499600	Weak transcription	NHEK	skin
9	chr6:49497000-49509400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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