Variant report

Variant	rs11217440
Chromosome Location	chr11:119611348-119611349
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:119610610..119612359-chr11:119615622..119618521,2	K562	blood:
2	chr11:119610859..119613381-chr11:119617021..119619803,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10790339	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10892444	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10892445	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10892446	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217426	0.80[EUR][1000 genomes]
rs11217429	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11217430	0.81[EUR][1000 genomes]
rs11217433	0.81[EUR][1000 genomes]
rs11217434	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11217437	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11217438	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11217441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217442	0.88[EUR][1000 genomes]
rs11217448	0.87[EUR][1000 genomes]
rs11607610	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12418662	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12421434	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12421466	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12786505	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12793075	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12796806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12797914	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12800445	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1876795	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2136420	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2136421	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2368936	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35248712	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3829260	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4245206	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4489755	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4505073	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4936496	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4938718	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4938719	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4938720	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58136657	0.88[EUR][1000 genomes]
rs6589770	0.87[EUR][1000 genomes]
rs73006720	0.88[EUR][1000 genomes]
rs7952366	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9666263	0.82[EUR][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	nsv898421	chr11:119499014-119631325	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv898423	chr11:119541332-119659753	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1051769	chr11:119572865-119630769	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1037739	chr11:119592989-119630641	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv3357144	chr11:119610642-119614840	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119601200-119612000	Weak transcription	Esophagus	oesophagus
2	chr11:119601200-119612200	Weak transcription	Right Atrium	heart
3	chr11:119601400-119612200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:119601400-119612200	Weak transcription	HMEC	breast
5	chr11:119601600-119612000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:119601600-119612000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:119601600-119612200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr11:119601800-119612000	Weak transcription	Spleen	Spleen
9	chr11:119601800-119612200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr11:119601800-119612200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:119605400-119612200	Enhancers	Fetal Intestine Small	intestine
12	chr11:119607600-119611400	Enhancers	Fetal Intestine Large	intestine
13	chr11:119608200-119611800	Enhancers	Colonic Mucosa	Colon
14	chr11:119609000-119611600	Enhancers	Stomach Mucosa	stomach
15	chr11:119609000-119612000	Weak transcription	Fetal Brain Female	brain
16	chr11:119609200-119612600	Enhancers	Duodenum Mucosa	Duodenum
17	chr11:119609800-119613600	Enhancers	Pancreas	Pancrea
18	chr11:119610000-119611800	Enhancers	Brain Cingulate Gyrus	brain
19	chr11:119610000-119612000	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr11:119610400-119614400	Enhancers	Gastric	stomach
21	chr11:119610600-119611600	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr11:119610600-119612400	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr11:119611200-119611600	Enhancers	Brain Substantia Nigra	brain
24	chr11:119611200-119612000	Weak transcription	Brain Germinal Matrix	brain
25	chr11:119611200-119612600	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr11:119611200-119614400	Enhancers	Sigmoid Colon	Sigmoid Colon

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