Variant report

Variant	rs60008550
Chromosome Location	chr11:119530672-119530673
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10892428	0.80[AMR][1000 genomes]
rs11217379	0.80[AFR][1000 genomes]
rs11217385	0.80[AMR][1000 genomes]
rs11603655	0.90[AMR][1000 genomes]
rs11604218	0.90[AMR][1000 genomes]
rs3751021	0.83[ASN][1000 genomes]
rs58142644	0.92[ASN][1000 genomes]
rs59781657	0.92[ASN][1000 genomes]
rs59997117	0.83[ASN][1000 genomes]
rs61030138	1.00[ASN][1000 genomes]
rs61122873	0.92[ASN][1000 genomes]
rs61247604	0.92[ASN][1000 genomes]
rs73573188	0.90[AMR][1000 genomes]
rs7944707	0.90[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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119522800-119532400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:119523000-119532000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr11:119523200-119531200	Weak transcription	Pancreas	Pancrea
4	chr11:119523200-119534200	Weak transcription	Spleen	Spleen
5	chr11:119523200-119541800	Weak transcription	Left Ventricle	heart
6	chr11:119523600-119536200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr11:119528000-119531200	Weak transcription	Fetal Intestine Small	intestine
8	chr11:119528600-119531800	Weak transcription	Esophagus	oesophagus
9	chr11:119528600-119534200	Weak transcription	NHEK	skin
10	chr11:119528600-119534600	Enhancers	Fetal Muscle Leg	muscle
11	chr11:119528800-119532200	Enhancers	Fetal Muscle Trunk	muscle
12	chr11:119528800-119534400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr11:119528800-119534600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr11:119529000-119531400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:119529400-119531800	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr11:119529400-119533800	Weak transcription	Brain Anterior Caudate	brain
17	chr11:119529400-119534400	Weak transcription	Fetal Intestine Large	intestine
18	chr11:119529600-119533800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr11:119529600-119535800	Weak transcription	HMEC	breast
20	chr11:119529800-119536200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr11:119530000-119530800	Enhancers	Placenta	Placenta
22	chr11:119530000-119532200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr11:119530000-119534200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:119530200-119531000	Enhancers	Duodenum Mucosa	Duodenum
25	chr11:119530200-119534000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr11:119530200-119546000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr11:119530400-119541600	Weak transcription	Small Intestine	intestine
28	chr11:119530600-119530800	Enhancers	Brain Cingulate Gyrus	brain
29	chr11:119530600-119531000	Enhancers	Ovary	ovary
30	chr11:119530600-119531600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr11:119530600-119532800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr11:119530600-119536800	Weak transcription	Stomach Smooth Muscle	stomach

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