Variant report

Variant	rs60306966
Chromosome Location	chr11:102117987-102117988
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:19)

rs_ID	r²[population]
rs10791570	0.92[EUR][1000 genomes]
rs10895275	0.81[ASN][1000 genomes]
rs10895276	0.81[ASN][1000 genomes]
rs10895280	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10895282	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10895283	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11225163	0.81[ASN][1000 genomes]
rs11225177	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12226331	0.81[ASN][1000 genomes]
rs3858420	0.82[ASN][1000 genomes]
rs4475891	0.82[ASN][1000 genomes]
rs57592482	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61280272	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7110557	0.81[ASN][1000 genomes]
rs7112802	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7124247	0.81[ASN][1000 genomes]
rs718891	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7927668	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7931576	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102081200-102118600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:102095200-102118600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr11:102097800-102119600	Weak transcription	Right Atrium	heart
4	chr11:102098400-102118600	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr11:102104600-102118600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr11:102105000-102118600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr11:102105200-102118600	Weak transcription	Fetal Muscle Leg	muscle
8	chr11:102105200-102118600	Weak transcription	Fetal Stomach	stomach
9	chr11:102105200-102118600	Weak transcription	Left Ventricle	heart
10	chr11:102106000-102118600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:102106200-102118600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr11:102106200-102118600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr11:102106400-102118600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr11:102110200-102118600	Weak transcription	Fetal Intestine Large	intestine
15	chr11:102113200-102118600	Weak transcription	Colon Smooth Muscle	Colon
16	chr11:102113400-102118600	Weak transcription	Fetal Lung	lung
17	chr11:102113400-102124200	Weak transcription	Pancreas	Pancrea
18	chr11:102113600-102118600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr11:102113600-102118600	Weak transcription	Fetal Intestine Small	intestine
20	chr11:102113600-102118600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr11:102113800-102118600	Weak transcription	Adipose Nuclei	Adipose
22	chr11:102116000-102118200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr11:102116000-102118600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:102116000-102126600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr11:102116200-102118600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr11:102116200-102122200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:102116200-102123000	Weak transcription	Osteobl	bone
28	chr11:102116200-102123200	Weak transcription	NHEK	skin
29	chr11:102116600-102122200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr11:102116800-102118600	Weak transcription	Fetal Brain Male	brain
31	chr11:102116800-102123200	Weak transcription	Hela-S3	cervix
32	chr11:102117200-102118600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:102117200-102119000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr11:102117200-102122000	Weak transcription	NHDF-Ad	bronchial
35	chr11:102117200-102130200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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