Variant report

Variant	rs59997117
Chromosome Location	chr11:119532755-119532756
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10892431	1.00[EUR][1000 genomes]
rs11217383	1.00[AMR][1000 genomes]
rs11217391	1.00[EUR][1000 genomes]
rs11217398	1.00[EUR][1000 genomes]
rs11217399	1.00[EUR][1000 genomes]
rs11217400	1.00[EUR][1000 genomes]
rs11217401	1.00[EUR][1000 genomes]
rs11217403	1.00[EUR][1000 genomes]
rs11217406	1.00[EUR][1000 genomes]
rs11217409	1.00[EUR][1000 genomes]
rs11217425	1.00[EUR][1000 genomes]
rs11217485	1.00[EUR][1000 genomes]
rs11217498	1.00[EUR][1000 genomes]
rs11600941	1.00[EUR][1000 genomes]
rs11822242	1.00[EUR][1000 genomes]
rs12279707	1.00[EUR][1000 genomes]
rs12281756	1.00[EUR][1000 genomes]
rs12282037	1.00[EUR][1000 genomes]
rs3751021	1.00[ASN][1000 genomes]
rs4424680	1.00[EUR][1000 genomes]
rs57088022	1.00[EUR][1000 genomes]
rs60008550	0.83[ASN][1000 genomes]
rs60295158	1.00[EUR][1000 genomes]
rs61030138	0.83[ASN][1000 genomes]
rs73575046	1.00[EUR][1000 genomes]
rs7927749	1.00[EUR][1000 genomes]
rs7936254	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042460	chr11:119430954-119540452	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv898420	chr11:119488646-119541332	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv898421	chr11:119499014-119631325	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv984471	chr11:119505802-119568473	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv898422	chr11:119518006-119601779	Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119523200-119534200	Weak transcription	Spleen	Spleen
2	chr11:119523200-119541800	Weak transcription	Left Ventricle	heart
3	chr11:119523600-119536200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:119528600-119534200	Weak transcription	NHEK	skin
5	chr11:119528600-119534600	Enhancers	Fetal Muscle Leg	muscle
6	chr11:119528800-119534400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr11:119528800-119534600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr11:119529400-119533800	Weak transcription	Brain Anterior Caudate	brain
9	chr11:119529400-119534400	Weak transcription	Fetal Intestine Large	intestine
10	chr11:119529600-119533800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:119529600-119535800	Weak transcription	HMEC	breast
12	chr11:119529800-119536200	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr11:119530000-119534200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:119530200-119534000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr11:119530200-119546000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:119530400-119541600	Weak transcription	Small Intestine	intestine
17	chr11:119530600-119532800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr11:119530600-119536800	Weak transcription	Stomach Smooth Muscle	stomach
19	chr11:119530800-119533200	Weak transcription	Brain Angular Gyrus	brain
20	chr11:119530800-119534200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr11:119531000-119533800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:119531000-119534200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr11:119531000-119534600	Weak transcription	Duodenum Mucosa	Duodenum
24	chr11:119531000-119534600	Weak transcription	Ovary	ovary
25	chr11:119531000-119536200	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr11:119531000-119542000	Weak transcription	Colonic Mucosa	Colon
27	chr11:119531200-119533000	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr11:119531200-119533800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr11:119531200-119533800	Strong transcription	Fetal Intestine Small	intestine
30	chr11:119531200-119534200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr11:119531200-119541800	Weak transcription	Fetal Heart	heart
32	chr11:119531400-119533000	Weak transcription	Brain Substantia Nigra	brain
33	chr11:119531400-119533200	Weak transcription	Brain Hippocampus Middle	brain
34	chr11:119531400-119534400	Weak transcription	Fetal Brain Female	brain
35	chr11:119531400-119536200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:119531600-119533800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr11:119531600-119534000	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr11:119531600-119536200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr11:119531800-119534600	Weak transcription	Right Ventricle	heart
40	chr11:119531800-119536600	Strong transcription	Esophagus	oesophagus
41	chr11:119531800-119539800	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr11:119532000-119533600	Strong transcription	Brain Germinal Matrix	brain
43	chr11:119532000-119536200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr11:119532200-119533000	Weak transcription	Placenta	Placenta
45	chr11:119532200-119534200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr11:119532200-119534200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
47	chr11:119532200-119534200	Strong transcription	Fetal Stomach	stomach
48	chr11:119532400-119532800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr11:119532400-119533200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr11:119532400-119533200	Strong transcription	Pancreas	Pancrea

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