Variant report

Variant	rs2123650
Chromosome Location	chr11:34650200-34650201
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10488740	0.85[EUR][1000 genomes]
rs10768084	0.85[EUR][1000 genomes]
rs10836265	0.96[AFR][1000 genomes]
rs11032789	0.83[EUR][1000 genomes]
rs17358030	0.82[EUR][1000 genomes]
rs35556136	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7127373	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7945208	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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
2	nsv832117	chr11:34639008-34831199	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1045130	chr11:34641598-34777725	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv1052192	chr11:34641598-34781288	ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv1051492	chr11:34641598-34789331	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv1052008	chr11:34641598-34794024	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv467788	chr11:34642493-34770494	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv553998	chr11:34642493-34770494	Enhancers Strong transcription Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv518807	chr11:34642493-34780936	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
10	nsv519718	chr11:34642493-34780936	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
11	nsv467789	chr11:34642493-34780936	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
12	nsv467790	chr11:34642493-34780936	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
13	nsv553999	chr11:34642493-34780936	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
14	nsv554000	chr11:34643780-34780936	Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
15	nsv869812	chr11:34648088-34810956	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34639800-34653800	Weak transcription	Right Atrium	heart
2	chr11:34644000-34650200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr11:34644000-34650200	Weak transcription	Brain Substantia Nigra	brain
4	chr11:34644000-34650200	Weak transcription	A549	lung
5	chr11:34644000-34651200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr11:34644200-34650800	Weak transcription	Brain Anterior Caudate	brain
7	chr11:34644200-34652000	Weak transcription	Brain Hippocampus Middle	brain
8	chr11:34645800-34651200	Weak transcription	Fetal Intestine Small	intestine
9	chr11:34646200-34653400	Weak transcription	HSMMtube	muscle
10	chr11:34646600-34656000	Weak transcription	Lung	lung
11	chr11:34647000-34653000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr11:34647200-34652800	Enhancers	Stomach Mucosa	stomach
13	chr11:34647200-34657200	Weak transcription	Gastric	stomach
14	chr11:34647800-34653200	Weak transcription	HepG2	liver
15	chr11:34648200-34650800	Weak transcription	Colonic Mucosa	Colon
16	chr11:34648400-34650600	Enhancers	Duodenum Mucosa	Duodenum
17	chr11:34649000-34650200	Active TSS	Esophagus	oesophagus
18	chr11:34649000-34651600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr11:34649200-34650600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:34649200-34651200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr11:34649200-34653000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:34649600-34653000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr11:34649600-34653400	Weak transcription	HMEC	breast
24	chr11:34650000-34650200	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr11:34650000-34650600	Genic enhancers	Pancreas	Pancrea
26	chr11:34650000-34650600	Genic enhancers	NHEK	skin
27	chr11:34650000-34650800	Genic enhancers	Rectal Mucosa Donor 29	rectum
28	chr11:34650000-34650800	Genic enhancers	Rectal Mucosa Donor 31	rectum
29	chr11:34650200-34650400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr11:34650200-34650400	Enhancers	A549	lung
31	chr11:34650200-34650600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
32	chr11:34650200-34650800	Transcr. at gene 5' and 3'	Esophagus	oesophagus
33	chr11:34650200-34653400	Enhancers	Brain Substantia Nigra	brain

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