Variant report

Variant	rs286948
Chromosome Location	chr11:34624962-34624963
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:34624693..34626791-chr11:34672431..34674013,2	K562	blood:
2	chr11:34622016..34626475-chr11:34634436..34638216,4	K562	blood:
3	chr11:34623436..34625468-chr11:34629882..34632091,2	MCF-7	breast:
4	chr11:34596450..34598657-chr11:34624688..34627095,2	K562	blood:
5	chr11:34624747..34628551-chr11:34657820..34660941,3	K562	blood:
6	chr11:34623810..34626247-chr11:34658951..34660726,2	K562	blood:
7	chr11:34623825..34626505-chr11:34860564..34863481,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10836262	0.86[ASN][1000 genomes]
rs10836263	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10836264	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11032780	0.92[ASN][1000 genomes]
rs16925853	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16925865	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16925867	1.00[CEU][hapmap]
rs286930	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs286932	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs286933	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs286934	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs286936	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs286937	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs286938	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs286940	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs286941	0.94[ASN][1000 genomes]
rs286943	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs286944	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs286947	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35933659	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs402709	0.87[AFR][1000 genomes]
rs57308521	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7109197	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7952644	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832116	chr11:34539536-34673900	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34608400-34643600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:34620000-34626600	Enhancers	NHEK	skin
3	chr11:34620600-34628400	Enhancers	Fetal Intestine Small	intestine
4	chr11:34620600-34628600	Enhancers	Fetal Intestine Large	intestine
5	chr11:34620800-34625800	Enhancers	Pancreas	Pancrea
6	chr11:34621800-34626600	Weak transcription	Small Intestine	intestine
7	chr11:34622600-34626000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:34622600-34626600	Weak transcription	HMEC	breast
9	chr11:34622800-34627200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr11:34623000-34625600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr11:34623000-34627000	Enhancers	Stomach Mucosa	stomach
12	chr11:34623000-34627200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:34623000-34627600	Weak transcription	Esophagus	oesophagus
14	chr11:34623000-34628000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:34623200-34625200	Weak transcription	Placenta	Placenta
16	chr11:34623200-34626600	Weak transcription	HSMMtube	muscle
17	chr11:34623200-34627200	Weak transcription	NHLF	lung
18	chr11:34623400-34628600	Enhancers	A549	lung
19	chr11:34623400-34628600	Enhancers	HepG2	liver
20	chr11:34623400-34631200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr11:34624000-34625200	Weak transcription	Fetal Lung	lung
22	chr11:34624200-34633800	Weak transcription	Lung	lung
23	chr11:34624400-34625400	Flanking Active TSS	K562	blood
24	chr11:34624600-34625000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:34624600-34625000	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr11:34624600-34625200	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr11:34624600-34628400	Enhancers	Hela-S3	cervix
28	chr11:34624800-34625200	Weak transcription	Gastric	stomach
29	chr11:34624800-34625600	Weak transcription	Colonic Mucosa	Colon
30	chr11:34624800-34626600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr11:34624800-34628200	Enhancers	Duodenum Mucosa	Duodenum
32	chr11:34624800-34630800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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