Variant report

Variant	rs73583916
Chromosome Location	chr11:102074557-102074558
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs17097551	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56876144	1.00[ASN][1000 genomes]
rs57630982	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs58397810	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59859727	1.00[ASN][1000 genomes]
rs60269946	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7131529	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73582043	1.00[AMR][1000 genomes]
rs73582094	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73582098	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73582101	1.00[ASN][1000 genomes]
rs73585832	0.85[AFR][1000 genomes];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]
rs7925543	0.96[AFR][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:81 , 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	chr11:102048400-102077200	Weak transcription	Lung	lung
6	chr11:102050400-102076600	Weak transcription	Placenta	Placenta
7	chr11:102051400-102076600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr11:102052000-102076600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:102056000-102078400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr11:102056200-102074800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr11:102058200-102076800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr11:102059600-102100400	Weak transcription	Gastric	stomach
13	chr11:102062800-102076600	Weak transcription	Fetal Stomach	stomach
14	chr11:102062800-102076600	Weak transcription	Left Ventricle	heart
15	chr11:102062800-102096400	Weak transcription	Small Intestine	intestine
16	chr11:102063000-102076600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:102063800-102076600	Weak transcription	Liver	Liver
18	chr11:102063800-102096600	Weak transcription	Stomach Mucosa	stomach
19	chr11:102064000-102075200	Weak transcription	Fetal Intestine Large	intestine
20	chr11:102064000-102094400	Weak transcription	Duodenum Mucosa	Duodenum
21	chr11:102064000-102105400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr11:102065400-102076600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr11:102066000-102074800	Weak transcription	Osteobl	bone
24	chr11:102066000-102076600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr11:102066400-102076600	Weak transcription	Fetal Muscle Leg	muscle
26	chr11:102066600-102074600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr11:102066800-102076400	Weak transcription	Hela-S3	cervix
28	chr11:102066800-102076600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr11:102066800-102077200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr11:102066800-102078400	Weak transcription	A549	lung
31	chr11:102068800-102076600	Weak transcription	NH-A	brain
32	chr11:102069000-102075600	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr11:102069000-102076200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr11:102069000-102078400	Weak transcription	Fetal Brain Male	brain
35	chr11:102069000-102080200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr11:102069000-102088400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr11:102069200-102078400	Weak transcription	Fetal Kidney	kidney
38	chr11:102069200-102080800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr11:102069600-102074800	Weak transcription	Aorta	Aorta
40	chr11:102069600-102074800	Weak transcription	Fetal Heart	heart
41	chr11:102069600-102076800	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr11:102069600-102078400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr11:102070000-102074800	Weak transcription	Colon Smooth Muscle	Colon
44	chr11:102070000-102076200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr11:102070600-102076600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr11:102071200-102076800	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr11:102071400-102077000	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr11:102071400-102094400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr11:102071600-102079400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr11:102071800-102076600	Weak transcription	Adipose Nuclei	Adipose

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