Variant report

Variant	rs1960181
Chromosome Location	chr11:9046767-9046768
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1136966	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12796375	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1969627	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1984775	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1984790	0.87[EUR][1000 genomes]
rs2060157	1.00[ASN][1000 genomes]
rs2653609	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2742483	1.00[ASN][1000 genomes]
rs34004082	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34191466	1.00[ASN][1000 genomes]
rs35578021	1.00[ASN][1000 genomes]
rs4061640	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56277831	1.00[ASN][1000 genomes]
rs7108116	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7110170	0.81[EUR][1000 genomes]
rs7130454	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs71476814	1.00[ASN][1000 genomes]
rs72856032	1.00[ASN][1000 genomes]
rs7396115	1.00[ASN][1000 genomes]
rs7936201	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7941341	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv896984	chr11:8988550-9090408	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv33264	chr11:9007612-9311131	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv896985	chr11:9013002-9152463	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1960181	C11orf17	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9035200-9051800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:9036600-9048400	Weak transcription	Pancreas	Pancrea
3	chr11:9038200-9064000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr11:9038600-9047000	Weak transcription	Brain Substantia Nigra	brain
5	chr11:9038800-9047400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr11:9039000-9052000	Weak transcription	Spleen	Spleen
7	chr11:9039000-9058800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr11:9039600-9048200	Weak transcription	Fetal Stomach	stomach
9	chr11:9039600-9049600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr11:9039600-9052000	Weak transcription	Lung	lung
11	chr11:9039600-9057800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:9039800-9047200	Weak transcription	NHDF-Ad	bronchial
13	chr11:9040000-9047000	Weak transcription	Adipose Nuclei	Adipose
14	chr11:9041800-9052400	Weak transcription	Gastric	stomach
15	chr11:9042200-9048000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:9042400-9050200	Weak transcription	Colonic Mucosa	Colon
17	chr11:9043400-9059200	Weak transcription	Right Atrium	heart
18	chr11:9043800-9051800	Weak transcription	Left Ventricle	heart
19	chr11:9043800-9052400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:9045400-9047600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:9045600-9047800	Enhancers	Fetal Brain Female	brain
22	chr11:9045600-9049800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr11:9045800-9047200	Strong transcription	Fetal Intestine Large	intestine
24	chr11:9045800-9047200	Weak transcription	HSMMtube	muscle
25	chr11:9045800-9052000	Weak transcription	Fetal Intestine Small	intestine
26	chr11:9046000-9047600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr11:9046200-9049000	Strong transcription	Stomach Smooth Muscle	stomach
28	chr11:9046600-9047400	Flanking Active TSS	Fetal Brain Male	brain
29	chr11:9046600-9047800	Enhancers	Fetal Lung	lung
30	chr11:9046600-9047800	Enhancers	Fetal Muscle Leg	muscle

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