Variant report

Variant	rs1255771
Chromosome Location	chr14:63991111-63991112
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:63989618..63991820-chr14:63993862..63996489,2	MCF-7	breast:
2	chr14:63989432..63993660-chr14:63995210..63997319,3	MCF-7	breast:
3	chr14:63990536..63993005-chr14:64106908..64108647,2	MCF-7	breast:
4	chr14:63989950..63993504-chr14:63993757..63996174,3	K562	blood:
5	chr14:63989950..63993504-chr14:63993757..63996174,4	K562	blood:

Variant related genes	Relation type
ENSG00000140006	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10129891	0.80[EUR][1000 genomes]
rs1152449	0.80[CEU][hapmap];0.95[CHB][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1255631	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1255638	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1255639	0.86[TSI][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1255718	0.81[CEU][hapmap];0.89[CHB][hapmap];0.82[CHD][hapmap];0.88[GIH][hapmap];0.89[TSI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1255720	0.95[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1255721	0.89[CHB][hapmap];0.80[CHD][hapmap];0.88[GIH][hapmap];0.89[TSI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1255722	0.81[GIH][hapmap];0.86[TSI][hapmap]
rs1255723	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1255731	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1255743	0.89[CHB][hapmap]
rs1255757	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1255765	0.85[ASN][1000 genomes]
rs1255776	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1255777	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1255788	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1271563	0.89[CHB][hapmap];0.80[CHD][hapmap];0.85[GIH][hapmap];0.89[TSI][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2754223	0.81[CEU][hapmap];0.88[GIH][hapmap];0.86[TSI][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28834707	0.90[ASN][1000 genomes]
rs3783738	0.88[JPT][hapmap]
rs6573522	0.86[TSI][hapmap];0.81[EUR][1000 genomes]
rs7158805	0.92[EUR][1000 genomes]
rs8009717	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs964954	0.81[CEU][hapmap];0.95[CHB][hapmap];0.82[CHD][hapmap];0.88[GIH][hapmap];0.89[TSI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];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	nsv527251	chr14:63400786-64068806	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv530774	chr14:63591348-64029881	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1255771	MTHFD1	cis	cerebellum	SCAN

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63951000-64003200	Weak transcription	Ovary	ovary
2	chr14:63960000-64005000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr14:63960200-64008600	Weak transcription	HSMMtube	muscle
4	chr14:63967600-63996400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr14:63969200-63991200	Weak transcription	Right Atrium	heart
6	chr14:63970200-64008600	Weak transcription	Aorta	Aorta
7	chr14:63971200-64000800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr14:63972000-64000200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr14:63972200-64003400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr14:63972400-64002800	Weak transcription	HMEC	breast
11	chr14:63972600-64008800	Weak transcription	Esophagus	oesophagus
12	chr14:63974800-64007800	Weak transcription	Fetal Brain Male	brain
13	chr14:63975000-63991200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:63975000-64008800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr14:63975200-64000600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr14:63975600-64005800	Weak transcription	K562	blood
17	chr14:63977200-64002400	Weak transcription	HSMM	muscle
18	chr14:63978200-63991200	Weak transcription	Pancreas	Pancrea
19	chr14:63978200-63993200	Weak transcription	Thymus	Thymus
20	chr14:63978400-63999400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr14:63978800-63992800	Weak transcription	Fetal Thymus	thymus
22	chr14:63978800-63993200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr14:63979200-64002600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr14:63980800-63991600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr14:63980800-64000400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr14:63980800-64008000	Weak transcription	Small Intestine	intestine
27	chr14:63981600-63996400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr14:63981600-63997600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr14:63981600-64002800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr14:63981800-63991400	Weak transcription	Gastric	stomach
31	chr14:63981800-63997400	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr14:63981800-64003200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr14:63981800-64004400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr14:63981800-64008000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr14:63982000-64001600	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr14:63982000-64002800	Weak transcription	HUVEC	blood vessel
37	chr14:63983400-64000600	Weak transcription	A549	lung
38	chr14:63983400-64002800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr14:63983600-63991600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr14:63983600-63999400	Weak transcription	Fetal Brain Female	brain
41	chr14:63983600-64000800	Weak transcription	Osteobl	bone
42	chr14:63983600-64003000	Weak transcription	Hela-S3	cervix
43	chr14:63983600-64003000	Weak transcription	NH-A	brain
44	chr14:63983600-64003200	Weak transcription	NHDF-Ad	bronchial
45	chr14:63984400-63991200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr14:63984400-63996600	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr14:63984400-64002000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr14:63985200-63991400	Weak transcription	Lung	lung
49	chr14:63986400-64000800	Weak transcription	Placenta	Placenta
50	chr14:63987600-64000800	Weak transcription	NHEK	skin

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