Variant report

Variant	rs60269946
Chromosome Location	chr11:102069924-102069925
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17097551	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56876144	1.00[ASN][1000 genomes]
rs57630982	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs58397810	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59859727	1.00[ASN][1000 genomes]
rs7131529	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73582043	1.00[AMR][1000 genomes]
rs73582094	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73582098	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73582101	1.00[ASN][1000 genomes]
rs73583916	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73585832	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73585838	1.00[AMR][1000 genomes]
rs73585841	1.00[AMR][1000 genomes]
rs73585847	1.00[AMR][1000 genomes]
rs73585870	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3362945	chr11:101736547-102114246	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv898333	chr11:101832670-102079986	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1052348	chr11:101987090-102255753	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv556141	chr11:101988061-102207851	Weak transcription Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1050961	chr11:101993880-102253717	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv1051735	chr11:101993880-102255753	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
7	nsv530646	chr11:102000840-102238992	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
8	nsv832251	chr11:102012295-102181744	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv1043388	chr11:102017719-102172857	Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102034600-102076800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr11:102043800-102077000	Weak transcription	Esophagus	oesophagus
3	chr11:102043800-102100400	Weak transcription	Pancreas	Pancrea
4	chr11:102046800-102076600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr11:102048400-102073600	Weak transcription	Psoas Muscle	Psoas
6	chr11:102048400-102077200	Weak transcription	Lung	lung
7	chr11:102050400-102076600	Weak transcription	Placenta	Placenta
8	chr11:102051400-102076600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr11:102052000-102076600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:102056000-102078400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr11:102056200-102074800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr11:102058200-102076800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr11:102059600-102100400	Weak transcription	Gastric	stomach
14	chr11:102061400-102073400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr11:102062800-102076600	Weak transcription	Fetal Stomach	stomach
16	chr11:102062800-102076600	Weak transcription	Left Ventricle	heart
17	chr11:102062800-102096400	Weak transcription	Small Intestine	intestine
18	chr11:102063000-102076600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr11:102063800-102073400	Weak transcription	NHLF	lung
20	chr11:102063800-102076600	Weak transcription	Liver	Liver
21	chr11:102063800-102096600	Weak transcription	Stomach Mucosa	stomach
22	chr11:102064000-102075200	Weak transcription	Fetal Intestine Large	intestine
23	chr11:102064000-102094400	Weak transcription	Duodenum Mucosa	Duodenum
24	chr11:102064000-102105400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr11:102065400-102076600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr11:102066000-102071400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr11:102066000-102074800	Weak transcription	Osteobl	bone
28	chr11:102066000-102076600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr11:102066400-102073800	Enhancers	HepG2	liver
30	chr11:102066400-102076600	Weak transcription	Fetal Muscle Leg	muscle
31	chr11:102066600-102074600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr11:102066800-102070600	Enhancers	Fetal Lung	lung
33	chr11:102066800-102073400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:102066800-102076400	Weak transcription	Hela-S3	cervix
35	chr11:102066800-102076600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr11:102066800-102077200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr11:102066800-102078400	Weak transcription	A549	lung
38	chr11:102067200-102070000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr11:102067200-102070400	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr11:102067600-102073400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr11:102067800-102073800	Weak transcription	NHEK	skin
42	chr11:102068000-102073400	Weak transcription	HSMMtube	muscle
43	chr11:102068600-102070600	Enhancers	Ovary	ovary
44	chr11:102068600-102074400	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr11:102068800-102070000	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr11:102068800-102070400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr11:102068800-102071200	Weak transcription	Adipose Nuclei	Adipose
48	chr11:102068800-102071600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr11:102068800-102073000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr11:102068800-102076600	Weak transcription	NH-A	brain

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