Variant report

Variant	rs17755752
Chromosome Location	chr14:68910151-68910152
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68905969..68908035-chr14:68908553..68911248,2	MCF-7	breast:
2	chr14:68909488..68911402-chr14:68914118..68916911,2	MCF-7	breast:
3	chr14:68771399..68773960-chr14:68910018..68913627,3	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10130220	0.86[EUR][1000 genomes]
rs1108007	1.00[JPT][hapmap]
rs11621276	1.00[MKK][hapmap]
rs11624164	1.00[LWK][hapmap];1.00[MKK][hapmap]
rs11624333	1.00[MKK][hapmap]
rs11846360	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11847185	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11849916	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1468278	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17105463	1.00[JPT][hapmap]
rs17105469	1.00[JPT][hapmap]
rs17105515	1.00[JPT][hapmap]
rs17105675	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17755657	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs17755734	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17828691	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs17828721	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17828763	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17828907	1.00[MKK][hapmap]
rs1956535	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2331705	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34256824	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35190649	0.84[ASN][1000 genomes]
rs3784121	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.92[ASN][1000 genomes]
rs7149983	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73276281	0.84[ASN][1000 genomes]
rs73276290	0.84[ASN][1000 genomes]
rs7359088	0.91[GIH][hapmap]
rs8013944	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv832822	chr14:68874640-69060272	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17755752	KIAA0247	cis	cerebellum	SCAN
rs17755752	MTHFD1	cis	cerebellum	SCAN

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68895200-68914400	Weak transcription	A549	lung
2	chr14:68903000-68911200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr14:68906200-68911200	Weak transcription	Spleen	Spleen
4	chr14:68906200-68911400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr14:68906200-68912200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr14:68906400-68911400	Weak transcription	Fetal Lung	lung
7	chr14:68906400-68912000	Enhancers	NHDF-Ad	bronchial
8	chr14:68906800-68911200	Weak transcription	Right Atrium	heart
9	chr14:68906800-68916000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:68907000-68911200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr14:68907200-68911200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr14:68907800-68911200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr14:68908000-68911200	Weak transcription	Liver	Liver
14	chr14:68908000-68913000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr14:68908600-68910200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr14:68908600-68912200	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr14:68908600-68917400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr14:68908800-68911000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr14:68909000-68910800	Weak transcription	Colon Smooth Muscle	Colon
20	chr14:68909000-68912600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr14:68909000-68916200	Weak transcription	Primary B cells from peripheral blood	blood
22	chr14:68909200-68912000	Enhancers	Fetal Muscle Leg	muscle
23	chr14:68909600-68910200	Enhancers	Adipose Nuclei	Adipose
24	chr14:68909600-68912000	Enhancers	Ovary	ovary
25	chr14:68909600-68912000	Enhancers	Psoas Muscle	Psoas
26	chr14:68909600-68912000	Enhancers	HMEC	breast
27	chr14:68909600-68912200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr14:68909600-68912200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr14:68909600-68912200	Enhancers	Muscle Satellite Cultured Cells	--
30	chr14:68909600-68912200	Enhancers	HSMMtube	muscle
31	chr14:68909600-68912200	Enhancers	Osteobl	bone
32	chr14:68909600-68912600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr14:68909600-68912800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr14:68909600-68915000	Enhancers	Dnd41	blood
35	chr14:68909800-68910800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr14:68909800-68910800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr14:68909800-68912400	Enhancers	HSMM	muscle
38	chr14:68910000-68910200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr14:68910000-68910200	Enhancers	Thymus	Thymus
40	chr14:68910000-68910200	Enhancers	NH-A	brain
41	chr14:68910000-68911400	Weak transcription	NHLF	lung
42	chr14:68910000-68912000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr14:68910000-68912000	Enhancers	Skeletal Muscle Male	skeletal muscle

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