Variant report

Variant	rs6486329
Chromosome Location	chr11:16980794-16980795
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:16759050..16760785-chr11:16980346..16982493,2	MCF-7	breast:
2	chr11:16980702..16983607-chr11:16983722..16985302,2	MCF-7	breast:
3	chr11:16975602..16978503-chr11:16980370..16983065,3	MCF-7	breast:
4	chr11:16980630..16982721-chr11:16985840..16988789,2	MCF-7	breast:
5	chr11:16978536..16981349-chr11:16989679..16991819,2	K562	blood:
6	chr11:16976871..16981000-chr11:17000472..17004649,3	MCF-7	breast:
7	chr11:16978286..16981863-chr11:16983113..16986432,3	K562	blood:
8	chr11:16971713..16981548-chr11:17031573..17039006,21	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000166689	Chromatin interaction
ENSG00000110693	Chromatin interaction
ENSG00000110696	Chromatin interaction
ENSG00000184669	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10741713	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10766360	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11024087	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11024090	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933680	0.88[ASN][1000 genomes]
rs16933682	0.88[ASN][1000 genomes]
rs16933683	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16933684	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs177551	0.81[ASN][1000 genomes]
rs177554	0.83[ASN][1000 genomes]
rs177559	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs177560	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs177561	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs177562	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs177563	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1860024	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1860025	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2108603	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2190752	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2215086	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2353367	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2883150	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35005405	0.88[ASN][1000 genomes]
rs35109048	0.90[ASN][1000 genomes]
rs4756875	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4756876	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4757445	0.90[ASN][1000 genomes]
rs4757449	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4757451	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4757452	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4757454	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4757456	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4757457	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6486326	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7111470	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7396552	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs758402	0.83[ASN][1000 genomes]
rs7924696	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7929137	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7939987	0.88[ASN][1000 genomes]
rs982811	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv832077	chr11:16834545-17059176	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv7689	chr11:16945953-16990852	Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16955600-16991000	Weak transcription	Right Atrium	heart
2	chr11:16964200-16981400	Weak transcription	Gastric	stomach
3	chr11:16968000-16989800	Weak transcription	Esophagus	oesophagus
4	chr11:16968800-16984400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:16973600-16982600	Enhancers	Fetal Intestine Large	intestine
6	chr11:16975400-16990600	Weak transcription	Spleen	Spleen
7	chr11:16976200-16980800	Weak transcription	Fetal Kidney	kidney
8	chr11:16978000-16981400	Enhancers	Fetal Intestine Small	intestine
9	chr11:16978600-16981000	Weak transcription	Pancreas	Pancrea
10	chr11:16978600-16981200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:16978600-16981600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:16978600-16987600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr11:16978600-16988400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr11:16978800-16981000	Weak transcription	A549	lung
15	chr11:16979000-16980800	Weak transcription	Colonic Mucosa	Colon
16	chr11:16979200-16980800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr11:16979800-16981200	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr11:16979800-16982200	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr11:16979800-16983400	Enhancers	Stomach Mucosa	stomach
20	chr11:16980000-16981000	Enhancers	Liver	Liver
21	chr11:16980000-16982400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr11:16980200-16980800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:16980200-16982200	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr11:16980200-16982400	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr11:16980200-16982600	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr11:16980200-16983800	Enhancers	HepG2	liver
27	chr11:16980400-16981200	Enhancers	GM12878-XiMat	blood
28	chr11:16980400-16981800	Enhancers	Small Intestine	intestine
29	chr11:16980400-16982000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr11:16980400-16982600	Enhancers	H1 Cell Line	embryonic stem cell
31	chr11:16980600-16980800	Enhancers	H9 Cell Line	embryonic stem cell
32	chr11:16980600-16981400	Enhancers	Brain Anterior Caudate	brain
33	chr11:16980600-16981400	Weak transcription	Placenta	Placenta
34	chr11:16980600-16982000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:16980600-16982200	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr11:16980600-16982200	Enhancers	Fetal Lung	lung
37	chr11:16980600-16982400	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr11:16980600-16982800	Enhancers	Duodenum Mucosa	Duodenum
39	chr11:16980600-16983200	Enhancers	Fetal Heart	heart

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