Variant report

Variant	rs7151629
Chromosome Location	chr14:68765724-68765725
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68762972..68765914-chr14:69258149..69260170,3	MCF-7	breast:
2	chr14:68764415..68769564-chr14:68770855..68774967,6	MCF-7	breast:
3	chr14:68763749..68766581-chr14:68985695..68988216,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10083393	0.90[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs10131654	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs10135678	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10136039	0.83[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs10144669	0.95[CEU][hapmap];0.96[YRI][hapmap];0.96[EUR][1000 genomes]
rs10483807	1.00[GIH][hapmap]
rs11158728	0.90[GIH][hapmap]
rs11158730	1.00[GIH][hapmap]
rs11621881	0.94[EUR][1000 genomes]
rs11627646	0.90[GIH][hapmap]
rs12880109	0.97[GIH][hapmap]
rs12890124	0.90[GIH][hapmap]
rs12892777	1.00[GIH][hapmap]
rs1956523	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs1956526	0.95[GIH][hapmap]
rs1956528	0.90[GIH][hapmap]
rs1956529	0.90[GIH][hapmap]
rs1956532	0.90[GIH][hapmap]
rs2013413	1.00[GIH][hapmap]
rs2064912	0.90[GIH][hapmap]
rs2064914	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2145423	0.90[GIH][hapmap]
rs3784104	0.90[GIH][hapmap]
rs3784106	1.00[CEU][hapmap];0.97[GIH][hapmap];0.97[TSI][hapmap];0.96[EUR][1000 genomes]
rs3784108	0.90[GIH][hapmap]
rs4410007	0.96[EUR][1000 genomes]
rs4899238	0.90[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs4902566	0.83[ASW][hapmap];1.00[CEU][hapmap];0.90[GIH][hapmap];0.93[LWK][hapmap];0.96[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs7147852	0.90[GIH][hapmap]
rs7148322	0.95[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs7148412	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs7149396	0.88[ASW][hapmap];0.95[GIH][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap];0.94[EUR][1000 genomes]
rs7150988	0.90[GIH][hapmap]
rs7493547	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs8013078	1.00[CEU][hapmap];0.93[YRI][hapmap];0.97[EUR][1000 genomes]
rs8013968	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs8017304	0.90[GIH][hapmap]
rs8022860	0.81[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs911254	1.00[GIH][hapmap]
rs911255	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs911258	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs927220	0.88[ASW][hapmap];0.95[CEU][hapmap];0.90[GIH][hapmap];0.85[JPT][hapmap];0.98[LWK][hapmap];0.83[MEX][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9323506	0.87[EUR][1000 genomes]
rs9989152	1.00[CEU][hapmap];0.94[EUR][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	nsv428628	chr14:68674504-68835127	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7151629	MTHFD1	cis	cerebellum	SCAN

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68752400-68768800	Weak transcription	Aorta	Aorta
2	chr14:68753400-68768800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr14:68753600-68768600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr14:68753600-68768800	Weak transcription	Dnd41	blood
5	chr14:68759000-68768400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr14:68760000-68768800	Weak transcription	Thymus	Thymus
7	chr14:68760400-68768800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr14:68760400-68776800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr14:68760600-68768400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr14:68760600-68768600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr14:68760600-68773600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr14:68761000-68767600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr14:68762000-68773400	Weak transcription	Small Intestine	intestine
14	chr14:68762400-68767400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr14:68762800-68767000	Weak transcription	Left Ventricle	heart
16	chr14:68762800-68768800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:68762800-68771400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr14:68763000-68768800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr14:68763400-68766400	Weak transcription	Fetal Heart	heart
20	chr14:68763400-68768400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr14:68763400-68772400	Weak transcription	Pancreas	Pancrea
22	chr14:68763800-68768800	Weak transcription	Primary B cells from cord blood	blood
23	chr14:68765000-68765800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
24	chr14:68765000-68774600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr14:68765200-68767400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr14:68765200-68767400	Weak transcription	Ovary	ovary
27	chr14:68765200-68767600	Weak transcription	Fetal Lung	lung
28	chr14:68765200-68767800	Weak transcription	Fetal Intestine Large	intestine
29	chr14:68765200-68771000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr14:68765400-68768600	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr14:68765400-68768600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr14:68765600-68767400	Weak transcription	Fetal Stomach	stomach
33	chr14:68765600-68767600	Weak transcription	Fetal Kidney	kidney
34	chr14:68765600-68768400	Weak transcription	Fetal Thymus	thymus
35	chr14:68765600-68768800	Weak transcription	Fetal Muscle Leg	muscle

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