Variant report

Variant	rs286912
Chromosome Location	chr11:34657144-34657145
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	chr11:34656114..34658130-chr11:34661592..34663186,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs286911	0.95[CEU][hapmap];0.81[CHB][hapmap];0.88[CHD][hapmap];0.84[GIH][hapmap];0.91[TSI][hapmap];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs286914	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs286920	0.87[ASW][hapmap];0.81[LWK][hapmap];0.96[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs286927	0.87[ASW][hapmap];0.96[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs443816	0.85[CEU][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7945550	0.81[JPT][hapmap];0.80[AMR][1000 genomes];0.82[EUR][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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34647200-34657200	Weak transcription	Gastric	stomach
2	chr11:34652000-34661200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:34653000-34658400	Enhancers	Fetal Intestine Small	intestine
4	chr11:34653200-34658200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:34653400-34662200	Enhancers	Stomach Mucosa	stomach
6	chr11:34654000-34658600	Weak transcription	Left Ventricle	heart
7	chr11:34654200-34661000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:34654400-34657200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr11:34654400-34657600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr11:34654400-34659000	Weak transcription	Right Atrium	heart
11	chr11:34654400-34666400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:34654600-34658800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr11:34654600-34661000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr11:34655000-34658000	Enhancers	Fetal Intestine Large	intestine
15	chr11:34655000-34663200	Enhancers	Pancreas	Pancrea
16	chr11:34655800-34661200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:34656000-34657800	Enhancers	NHEK	skin
18	chr11:34656000-34660200	Weak transcription	K562	blood
19	chr11:34656200-34657200	Weak transcription	Colonic Mucosa	Colon
20	chr11:34656200-34657200	Weak transcription	Esophagus	oesophagus
21	chr11:34656200-34657200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr11:34656200-34657200	Weak transcription	A549	lung
23	chr11:34656200-34658000	Enhancers	Duodenum Mucosa	Duodenum
24	chr11:34656200-34658200	Enhancers	Hela-S3	cervix
25	chr11:34656200-34658600	Weak transcription	Brain Hippocampus Middle	brain
26	chr11:34656200-34658600	Weak transcription	Brain Substantia Nigra	brain
27	chr11:34656200-34658600	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr11:34656200-34658800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr11:34656200-34659000	Weak transcription	Psoas Muscle	Psoas
30	chr11:34656200-34660200	Weak transcription	Placenta	Placenta
31	chr11:34656200-34661000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr11:34656200-34661200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr11:34656200-34661200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr11:34656200-34661400	Weak transcription	Brain Anterior Caudate	brain
35	chr11:34656200-34661600	Weak transcription	Adipose Nuclei	Adipose
36	chr11:34656200-34662200	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr11:34656200-34674400	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr11:34656400-34661800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr11:34656600-34657400	Weak transcription	Small Intestine	intestine
40	chr11:34656600-34659800	Weak transcription	HepG2	liver
41	chr11:34656600-34661000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr11:34656600-34661000	Weak transcription	Liver	Liver
43	chr11:34656800-34657200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr11:34656800-34657200	Weak transcription	HMEC	breast
45	chr11:34657000-34657200	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr11:34657000-34661200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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