Variant report

Variant	rs3751021
Chromosome Location	chr11:119532976-119532977
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs58142644	1.00[AMR][1000 genomes]
rs59270995	1.00[AMR][1000 genomes]
rs59444734	1.00[AMR][1000 genomes]
rs59781657	1.00[AMR][1000 genomes]
rs59997117	1.00[ASN][1000 genomes]
rs60008550	0.83[ASN][1000 genomes]
rs60023994	1.00[AMR][1000 genomes]
rs61030138	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs61122873	1.00[AMR][1000 genomes]
rs73571253	1.00[AMR][1000 genomes]
rs73572185	1.00[AMR][1000 genomes]
rs73572202	1.00[AMR][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:55 , 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	chr11:119530600-119536800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr11:119530800-119533200	Weak transcription	Brain Angular Gyrus	brain
19	chr11:119530800-119534200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr11:119531000-119533800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:119531000-119534200	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr11:119531000-119534600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr11:119531000-119534600	Weak transcription	Ovary	ovary
24	chr11:119531000-119536200	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr11:119531000-119542000	Weak transcription	Colonic Mucosa	Colon
26	chr11:119531200-119533000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr11:119531200-119533800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr11:119531200-119533800	Strong transcription	Fetal Intestine Small	intestine
29	chr11:119531200-119534200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr11:119531200-119541800	Weak transcription	Fetal Heart	heart
31	chr11:119531400-119533000	Weak transcription	Brain Substantia Nigra	brain
32	chr11:119531400-119533200	Weak transcription	Brain Hippocampus Middle	brain
33	chr11:119531400-119534400	Weak transcription	Fetal Brain Female	brain
34	chr11:119531400-119536200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr11:119531600-119533800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr11:119531600-119534000	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr11:119531600-119536200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr11:119531800-119534600	Weak transcription	Right Ventricle	heart
39	chr11:119531800-119536600	Strong transcription	Esophagus	oesophagus
40	chr11:119531800-119539800	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr11:119532000-119533600	Strong transcription	Brain Germinal Matrix	brain
42	chr11:119532000-119536200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr11:119532200-119533000	Weak transcription	Placenta	Placenta
44	chr11:119532200-119534200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr11:119532200-119534200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
46	chr11:119532200-119534200	Strong transcription	Fetal Stomach	stomach
47	chr11:119532400-119533200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr11:119532400-119533200	Strong transcription	Pancreas	Pancrea
49	chr11:119532400-119534000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr11:119532400-119535200	Enhancers	Brain Cingulate Gyrus	brain

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