Variant report

Variant	rs12881755
Chromosome Location	chr14:65801811-65801812
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:65687538..65689210-chr14:65800729..65803430,2	MCF-7	breast:
2	chr14:65799114..65802639-chr14:65877920..65880470,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000033170	Chromatin interaction
ENSG00000255002	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs11621121	0.88[CHB][hapmap];0.83[CHD][hapmap];0.88[ASN][1000 genomes]
rs11623920	0.88[ASN][1000 genomes]
rs11627598	0.88[ASN][1000 genomes]
rs12878872	0.91[ASN][1000 genomes]
rs12880725	0.88[ASN][1000 genomes]
rs12881911	0.88[ASN][1000 genomes]
rs12886005	0.91[ASN][1000 genomes]
rs12886168	0.91[ASN][1000 genomes]
rs12893094	0.85[ASN][1000 genomes]
rs12895337	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1954052	0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs28740895	0.84[ASN][1000 genomes]
rs4899174	0.91[ASN][1000 genomes]
rs4902391	0.89[ASN][1000 genomes]
rs4902393	0.88[CHB][hapmap];0.86[ASN][1000 genomes]
rs7143666	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7152441	0.80[ASN][1000 genomes]
rs7157006	0.88[ASN][1000 genomes]
rs7158347	0.88[ASN][1000 genomes]
rs747541	0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs8014475	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs899959	0.85[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	nsv832817	chr14:65637069-65810406	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
2	nsv832818	chr14:65706859-65882320	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1036403	chr14:65724229-66208114	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
4	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
5	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs12881755	CHURC1	cis	cerebellum	SCAN
rs12881755	CHURC1	cis	parietal	SCAN
rs12881755	SIX1	cis	cerebellum	SCAN
rs12881755	FUT8	cis	cerebellum	SCAN

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65795400-65804600	Enhancers	Primary B cells from peripheral blood	blood
2	chr14:65796000-65807200	Enhancers	Placenta	Placenta
3	chr14:65798000-65803000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr14:65798400-65802600	Enhancers	Primary hematopoietic stem cells	blood
5	chr14:65798400-65803400	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr14:65798600-65802400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr14:65798800-65802200	Enhancers	Small Intestine	intestine
8	chr14:65798800-65802600	Enhancers	Primary B cells from cord blood	blood
9	chr14:65798800-65803000	Enhancers	GM12878-XiMat	blood
10	chr14:65799000-65802200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr14:65799000-65803400	Enhancers	Adipose Nuclei	Adipose
12	chr14:65799200-65803400	Enhancers	NHEK	skin
13	chr14:65799200-65805400	Enhancers	Fetal Intestine Large	intestine
14	chr14:65799400-65804200	Enhancers	Stomach Mucosa	stomach
15	chr14:65799800-65803400	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr14:65800200-65803400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr14:65800200-65805400	Enhancers	Fetal Intestine Small	intestine
18	chr14:65800400-65803000	Enhancers	NH-A	brain
19	chr14:65800400-65803200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr14:65800600-65802600	Enhancers	Fetal Muscle Leg	muscle
21	chr14:65800600-65803400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr14:65800600-65804000	Enhancers	Fetal Thymus	thymus
23	chr14:65800600-65804200	Enhancers	Primary T cells from cord blood	blood
24	chr14:65800800-65802200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
25	chr14:65800800-65802400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr14:65800800-65802600	Enhancers	Fetal Stomach	stomach
27	chr14:65800800-65802600	Enhancers	Ovary	ovary
28	chr14:65800800-65803400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr14:65800800-65803400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr14:65800800-65803400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr14:65800800-65803400	Enhancers	Fetal Lung	lung
32	chr14:65800800-65803400	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr14:65800800-65803600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr14:65800800-65803600	Enhancers	Placenta Amnion	Placenta Amnion
35	chr14:65801000-65802400	Enhancers	HepG2	liver
36	chr14:65801000-65803400	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr14:65801000-65803600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr14:65801000-65803800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr14:65801000-65804000	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr14:65801200-65802000	Enhancers	Pancreas	Pancrea
41	chr14:65801200-65802000	Enhancers	Right Atrium	heart
42	chr14:65801200-65803400	Enhancers	Primary T cells fromperipheralblood	blood
43	chr14:65801400-65802200	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr14:65801400-65802200	Enhancers	Hela-S3	cervix
45	chr14:65801400-65802400	Weak transcription	Gastric	stomach
46	chr14:65801400-65802400	Weak transcription	Lung	lung
47	chr14:65801400-65802400	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr14:65801400-65802600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr14:65801400-65802600	Enhancers	Fetal Muscle Trunk	muscle
50	chr14:65801400-65803000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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