Variant report

Variant	rs11235120
Chromosome Location	chr11:87080713-87080714
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:87078820..87081451-chr11:87082089..87084879,2	K562	blood:
2	chr11:87079816..87081973-chr11:87112546..87114739,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10898681	0.90[EUR][1000 genomes]
rs11235127	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11235132	0.84[EUR][1000 genomes]
rs11235138	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11600925	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11601111	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11602448	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11603113	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11605122	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11605218	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11606026	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12416915	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12417501	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12788486	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12789671	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12789890	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12795299	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12798396	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17213237	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17213307	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34122249	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34312067	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35063134	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35129719	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35445892	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4429080	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61909589	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7102171	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][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	nsv1043562	chr11:86755535-87547185	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv541120	chr11:86755535-87547185	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1046288	chr11:86757573-87158571	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv555714	chr11:87058981-87399218	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1039172	chr11:87068731-87385458	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11235120	RAB38	cis	parietal	SCAN

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:87048400-87095400	Weak transcription	Aorta	Aorta
2	chr11:87071200-87088200	Weak transcription	Liver	Liver
3	chr11:87077600-87081000	Enhancers	Osteobl	bone
4	chr11:87077600-87088600	Weak transcription	Left Ventricle	heart
5	chr11:87077800-87080800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:87078400-87081200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr11:87078400-87081400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:87079000-87081000	Enhancers	Placenta Amnion	Placenta Amnion
9	chr11:87079200-87081200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr11:87079200-87081200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr11:87079200-87081200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:87079200-87082400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:87079200-87082800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr11:87079400-87080800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr11:87079400-87081400	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr11:87079400-87081400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr11:87079400-87081400	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr11:87079400-87082000	Enhancers	H1 Cell Line	embryonic stem cell
19	chr11:87079600-87080800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr11:87079600-87081200	Enhancers	Spleen	Spleen
21	chr11:87079600-87082200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr11:87079800-87081200	Enhancers	Primary hematopoietic stem cells	blood
23	chr11:87080000-87081200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr11:87080000-87085200	Weak transcription	Adipose Nuclei	Adipose
25	chr11:87080200-87081000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr11:87080200-87081200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr11:87080200-87081200	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr11:87080400-87080800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr11:87080400-87081000	Weak transcription	Fetal Kidney	kidney
30	chr11:87080400-87081400	Enhancers	NHEK	skin
31	chr11:87080400-87081800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr11:87080400-87084000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr11:87080600-87081200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr11:87080600-87081200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr11:87080600-87081600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr11:87080600-87081600	Enhancers	HUVEC	blood vessel
37	chr11:87080600-87084000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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