Variant report

Variant	rs71476814
Chromosome Location	chr11:9080227-9080228
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:9079042..9082011-chr11:9084095..9086895,2	MCF-7	breast:
2	chr11:9079563..9082027-chr11:9110788..9112419,2	K562	blood:
3	chr11:9070098..9074605-chr11:9077166..9080417,4	K562	blood:

Variant related genes	Relation type
ENSG00000264984	Chromatin interaction
ENSG00000175356	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1136966	1.00[ASN][1000 genomes]
rs12796375	1.00[ASN][1000 genomes]
rs1960181	1.00[ASN][1000 genomes]
rs1969627	1.00[ASN][1000 genomes]
rs1984775	1.00[ASN][1000 genomes]
rs2060157	1.00[ASN][1000 genomes]
rs2653609	1.00[ASN][1000 genomes]
rs2742483	1.00[ASN][1000 genomes]
rs34004082	1.00[ASN][1000 genomes]
rs34191466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35578021	1.00[ASN][1000 genomes]
rs3763904	0.80[AMR][1000 genomes]
rs4061640	1.00[ASN][1000 genomes]
rs56277831	1.00[ASN][1000 genomes]
rs68168878	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7126825	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7127387	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7130454	1.00[ASN][1000 genomes]
rs72856032	1.00[ASN][1000 genomes]
rs7396115	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7936201	1.00[ASN][1000 genomes]
rs7941341	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
5	nsv467704	chr11:9059192-9125301	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	nsv553454	chr11:9059192-9125301	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
7	nsv467706	chr11:9077652-9114999	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
8	nsv553455	chr11:9077652-9114999	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs71476814	SCUBE2	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9058400-9099800	Weak transcription	Aorta	Aorta
2	chr11:9066000-9081800	Weak transcription	Small Intestine	intestine
3	chr11:9069000-9080400	Weak transcription	Fetal Intestine Large	intestine
4	chr11:9069000-9092400	Weak transcription	Fetal Intestine Small	intestine
5	chr11:9069200-9083800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr11:9070200-9087400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:9070200-9097200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr11:9070400-9098400	Weak transcription	Colonic Mucosa	Colon
9	chr11:9070600-9087800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr11:9070600-9091600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:9071200-9087200	Weak transcription	Fetal Brain Male	brain
12	chr11:9074800-9080600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr11:9075000-9081200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr11:9075000-9088000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:9075000-9092600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr11:9075200-9087200	Weak transcription	Pancreas	Pancrea
17	chr11:9076000-9085800	Weak transcription	Placenta	Placenta
18	chr11:9076200-9085800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr11:9076200-9087000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr11:9076200-9087200	Weak transcription	HSMM	muscle
21	chr11:9077400-9080600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr11:9078400-9082000	Weak transcription	Gastric	stomach
23	chr11:9078600-9080600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:9078600-9092800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr11:9078800-9080400	Weak transcription	Adipose Nuclei	Adipose
26	chr11:9078800-9098000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:9079000-9080600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:9079000-9089600	Weak transcription	Fetal Lung	lung
29	chr11:9079000-9091200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:9079000-9096200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr11:9079400-9080600	Weak transcription	Fetal Stomach	stomach
32	chr11:9079600-9082000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr11:9079600-9087600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr11:9079600-9088200	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr11:9079800-9080600	Weak transcription	Fetal Muscle Leg	muscle
36	chr11:9079800-9087800	Weak transcription	Fetal Muscle Trunk	muscle

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