Variant report

Variant	rs744983
Chromosome Location	chr11:120166358-120166359
allele	C/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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:120159375..120161536-chr11:120164947..120166851,2	MCF-7	breast:
2	chr11:120101055..120116563-chr11:120160593..120179156,52	K562	blood:
3	chr11:120104352..120110604-chr11:120164438..120175098,43	MCF-7	breast:
4	chr11:120161703..120167886-chr11:120168928..120172296,6	K562	blood:
5	chr11:120159549..120163046-chr11:120164212..120166890,3	K562	blood:
6	chr11:120161676..120163879-chr11:120164958..120166654,2	MCF-7	breast:
7	chr11:120163792..120168404-chr11:120169163..120175266,6	MCF-7	breast:
8	chr11:120107031..120108654-chr11:120163795..120166406,2	MCF-7	breast:
9	chr11:120125189..120127273-chr11:120164985..120166841,2	K562	blood:
10	chr11:120105986..120110139-chr11:120162692..120168380,9	K562	blood:
11	chr11:120151169..120153171-chr11:120166306..120168232,2	K562	blood:

No data

No data

No data

Extended variants
information (count: 18 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10750170	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10790373	0.81[CHB][hapmap]
rs10790374	0.85[CEU][hapmap];0.80[JPT][hapmap];0.81[EUR][1000 genomes]
rs11217785	0.80[JPT][hapmap]
rs11217787	0.84[EUR][1000 genomes]
rs2155810	0.83[AMR][1000 genomes]
rs4245211	0.84[CEU][hapmap];0.80[JPT][hapmap];0.81[EUR][1000 genomes]
rs4936512	0.80[JPT][hapmap]
rs4936513	0.85[CEU][hapmap];0.80[JPT][hapmap];0.81[EUR][1000 genomes]
rs6589805	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6589806	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6589807	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.97[LWK][hapmap];0.89[MKK][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7111185	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7120237	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7951628	0.81[ASW][hapmap];0.85[CEU][hapmap];0.87[JPT][hapmap];0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv428581	chr11:120006048-120167603	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs744983	TBCEL	cis	parietal	SCAN
rs744983	DPAGT1	cis	cerebellum	SCAN
rs744983	TRIM56	trans	cerebellum	SCAN
rs744983	RNF214	cis	parietal	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120161200-120166400	Enhancers	Duodenum Mucosa	Duodenum
2	chr11:120162600-120166800	Enhancers	Placenta	Placenta
3	chr11:120163600-120166800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr11:120163800-120166600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr11:120164400-120166600	Enhancers	Hela-S3	cervix
6	chr11:120165000-120166400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:120165000-120166800	Enhancers	Fetal Intestine Small	intestine
8	chr11:120165000-120167000	Enhancers	Fetal Intestine Large	intestine
9	chr11:120165200-120166800	Enhancers	NHEK	skin
10	chr11:120165800-120166800	Enhancers	Fetal Heart	heart
11	chr11:120166200-120166400	Flanking Active TSS	Small Intestine	intestine
12	chr11:120166200-120168000	Weak transcription	Pancreas	Pancrea

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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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