Variant report

Variant	rs11038605
Chromosome Location	chr11:45676784-45676785
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:45671225..45673031-chr11:45675062..45677985,2	K562	blood:
2	chr11:45658659..45661256-chr11:45675243..45676992,2	K562	blood:
3	chr11:45427814..45428397-chr11:45676543..45677286,2	MCF-7	breast:
4	chr11:45676348..45677919-chr11:45792905..45794177,5	K562	blood:
5	chr11:45392488..45393362-chr11:45676466..45677098,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000205106	Chromatin interaction
ENSG00000255267	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10838503	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.91[JPT][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11038595	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11038602	0.80[ASN][1000 genomes]
rs11038604	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11038611	1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs1992849	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2277272	0.86[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs3740702	0.91[CEU][hapmap];0.86[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3802762	0.86[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4148898	0.86[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4148902	0.88[ASN][1000 genomes]
rs4148903	0.86[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4540819	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4755331	0.80[ASN][1000 genomes]
rs4755334	0.91[ASN][1000 genomes]
rs66798082	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72896778	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9787901	0.91[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	nsv897311	chr11:45663568-45691118	Bivalent Enhancer Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv897312	chr11:45663568-45699134	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv897313	chr11:45670395-45699134	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv554197	chr11:45673014-45679212	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv554198	chr11:45674266-45684117	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11038605	CHST1	cis	Esophagus Mucosa	GTEx
rs11038605	CHST1	cis	cerebellum	SCAN

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45665600-45680000	Weak transcription	Gastric	stomach
2	chr11:45670000-45680200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:45673200-45677000	Weak transcription	Ovary	ovary
4	chr11:45673400-45677000	Weak transcription	Lung	lung
5	chr11:45673600-45677200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:45673800-45677400	Enhancers	Fetal Muscle Leg	muscle
7	chr11:45674000-45677200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:45674200-45677000	Enhancers	Fetal Stomach	stomach
9	chr11:45674200-45679800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:45674400-45677000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:45674600-45677000	Weak transcription	HMEC	breast
12	chr11:45674600-45679800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:45674800-45676800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr11:45674800-45676800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:45675600-45677800	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr11:45675600-45679800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr11:45675800-45677000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr11:45675800-45677000	Enhancers	Placenta	Placenta
19	chr11:45675800-45677200	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr11:45675800-45677400	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr11:45675800-45677400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr11:45675800-45677400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr11:45676000-45676800	Enhancers	Psoas Muscle	Psoas
24	chr11:45676000-45677000	Enhancers	Osteobl	bone
25	chr11:45676000-45677600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr11:45676000-45677800	Enhancers	Brain Germinal Matrix	brain
27	chr11:45676200-45676800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:45676200-45677000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr11:45676200-45677400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr11:45676200-45677800	Enhancers	Fetal Brain Male	brain
31	chr11:45676400-45676800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr11:45676400-45676800	Enhancers	Brain Angular Gyrus	brain
33	chr11:45676400-45677200	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr11:45676400-45677200	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr11:45676400-45677200	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr11:45676400-45677400	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr11:45676400-45677400	Enhancers	H1 Cell Line	embryonic stem cell
38	chr11:45676400-45677400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr11:45676400-45677400	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr11:45676400-45677400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr11:45676400-45677400	Enhancers	Brain Substantia Nigra	brain
42	chr11:45676400-45677400	Enhancers	Right Ventricle	heart
43	chr11:45676400-45677400	Enhancers	Spleen	Spleen
44	chr11:45676400-45677800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr11:45676400-45677800	Enhancers	HUVEC	blood vessel
46	chr11:45676600-45676800	Enhancers	Brain Hippocampus Middle	brain
47	chr11:45676600-45677000	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr11:45676600-45677000	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr11:45676600-45677000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr11:45676600-45677000	Bivalent Enhancer	Adipose Nuclei	Adipose

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