Variant report

Variant	rs2277272
Chromosome Location	chr11:45674170-45674171
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr11:45674129-45674205	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:45673703..45676177-chr11:45681263..45683293,2	K562	blood:
2	chr11:45673604..45675879-chr11:45677397..45678906,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTD-2210P24.4.1-2	chr11:45674019-45674241	ENSG00000255091.1
2	lnc-CTD-2210P24.4.1-2	chr11:45674019-45674355	NONHSAT019042

No data

Variant related genes	Relation type
CHST1	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10838503	0.91[CHB][hapmap];0.83[CHD][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs11038595	0.88[ASN][1000 genomes]
rs11038602	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11038604	0.95[ASN][1000 genomes]
rs11038605	0.86[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11038611	0.80[ASN][1000 genomes]
rs1992849	0.90[ASN][1000 genomes]
rs3740702	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3802762	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.87[MEX][hapmap];0.82[MKK][hapmap];0.96[TSI][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4148898	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.87[MEX][hapmap];0.93[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4148902	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4148903	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.96[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4540819	0.88[ASN][1000 genomes]
rs4755331	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4755334	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs66798082	0.82[ASN][1000 genomes]
rs72896778	0.95[ASN][1000 genomes]
rs9787901	0.81[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2277272	CHST1	cis	cerebellum	SCAN

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45665600-45674400	Weak transcription	HMEC	breast
2	chr11:45665600-45680000	Weak transcription	Gastric	stomach
3	chr11:45669800-45676400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:45669800-45676400	Weak transcription	HUVEC	blood vessel
5	chr11:45669800-45676600	Weak transcription	Left Ventricle	heart
6	chr11:45670000-45680200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:45670600-45675400	Strong transcription	Dnd41	blood
8	chr11:45670600-45676600	Weak transcription	Brain Hippocampus Middle	brain
9	chr11:45671200-45676200	Weak transcription	Fetal Brain Male	brain
10	chr11:45671800-45674200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:45672600-45675200	Weak transcription	Aorta	Aorta
12	chr11:45672600-45675800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr11:45672600-45676400	Weak transcription	Right Ventricle	heart
14	chr11:45672800-45674200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr11:45673200-45674200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr11:45673200-45675400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr11:45673200-45677000	Weak transcription	Ovary	ovary
18	chr11:45673400-45674200	Bivalent Enhancer	Fetal Stomach	stomach
19	chr11:45673400-45674400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr11:45673400-45674600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr11:45673400-45675800	Weak transcription	Brain Anterior Caudate	brain
22	chr11:45673400-45677000	Weak transcription	Lung	lung
23	chr11:45673600-45674200	Enhancers	Placenta Amnion	Placenta Amnion
24	chr11:45673600-45674600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr11:45673600-45676000	Weak transcription	Brain Germinal Matrix	brain
26	chr11:45673600-45677200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr11:45673800-45674200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr11:45673800-45674200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:45673800-45674200	Bivalent/Poised TSS	Hela-S3	cervix
30	chr11:45673800-45674400	Strong transcription	Spleen	Spleen
31	chr11:45673800-45674600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr11:45673800-45674600	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr11:45673800-45675000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr11:45673800-45676600	Weak transcription	Fetal Brain Female	brain
35	chr11:45673800-45677400	Enhancers	Fetal Muscle Leg	muscle
36	chr11:45674000-45674600	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr11:45674000-45674800	Enhancers	Muscle Satellite Cultured Cells	--
38	chr11:45674000-45674800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr11:45674000-45674800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:45674000-45674800	Enhancers	Brain Angular Gyrus	brain
41	chr11:45674000-45675000	Enhancers	NHEK	skin
42	chr11:45674000-45675000	Enhancers	Osteobl	bone
43	chr11:45674000-45675600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr11:45674000-45677200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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