Variant report

Variant	rs7151163
Chromosome Location	chr14:64857096-64857097
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:64805337..64807131-chr14:64855517..64857176,2	MCF-7	breast:
2	chr14:64853586..64859592-chr14:64968792..64973445,7	MCF-7	breast:
3	chr14:64852241..64854032-chr14:64855685..64858299,2	K562	blood:

Variant related genes	Relation type
ENSG00000089775	Chromatin interaction
ENSG00000126804	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10131195	0.89[EUR][1000 genomes]
rs10145700	0.92[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs10146204	0.83[EUR][1000 genomes]
rs1076991	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap]
rs11158538	1.00[CEU][hapmap];0.80[YRI][hapmap];0.99[EUR][1000 genomes]
rs12100642	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12434608	0.81[EUR][1000 genomes]
rs1256093	0.82[CEU][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12894546	0.83[EUR][1000 genomes]
rs28570137	0.89[EUR][1000 genomes]
rs2983733	0.89[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2983736	0.89[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.80[YRI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2983738	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs2983739	0.94[EUR][1000 genomes]
rs2983741	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2983742	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2983746	0.94[EUR][1000 genomes]
rs2983747	0.87[EUR][1000 genomes]
rs2987958	0.89[EUR][1000 genomes]
rs2987959	0.86[EUR][1000 genomes]
rs2987960	0.90[EUR][1000 genomes]
rs2987961	0.90[EUR][1000 genomes]
rs2987962	0.85[EUR][1000 genomes]
rs2987963	0.89[EUR][1000 genomes]
rs2987964	0.90[EUR][1000 genomes]
rs2987965	0.83[EUR][1000 genomes]
rs2987969	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs2987970	0.90[EUR][1000 genomes]
rs2987971	0.90[EUR][1000 genomes]
rs2987972	0.84[EUR][1000 genomes]
rs2987973	0.87[EUR][1000 genomes]
rs2987974	0.89[EUR][1000 genomes]
rs2987977	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2987979	0.89[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2987982	0.90[EUR][1000 genomes]
rs2987984	0.86[EUR][1000 genomes]
rs3020436	0.89[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3020438	0.87[EUR][1000 genomes]
rs3020439	0.88[EUR][1000 genomes]
rs3020441	0.89[EUR][1000 genomes]
rs3020442	0.91[EUR][1000 genomes]
rs35020344	0.82[CEU][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs36016358	0.83[EUR][1000 genomes]
rs4902274	0.85[EUR][1000 genomes]
rs57087457	0.98[EUR][1000 genomes]
rs57351847	0.82[EUR][1000 genomes]
rs8003153	0.89[EUR][1000 genomes]
rs8007217	0.90[EUR][1000 genomes]
rs8010584	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8018032	0.89[EUR][1000 genomes]
rs9323449	0.83[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv902019	chr14:64395569-64882380	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7151163	MTHFD1	cis	Thyroid	GTEx
rs7151163	MTHFD1	Cis_1M	lymphoblastoid	RTeQTL
rs7151163	MTHFD1	cis	Skin Sun Exposed Lower leg	GTEx
rs7151163	MTHFD1	cis	Artery Tibial	GTEx

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64855600-64858000	Weak transcription	Lung	lung
2	chr14:64855800-64858200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:64856000-64858800	Weak transcription	Left Ventricle	heart
4	chr14:64856000-64858800	Weak transcription	Pancreas	Pancrea
5	chr14:64856000-64869800	Weak transcription	Placenta	Placenta
6	chr14:64856000-64886200	Weak transcription	Fetal Brain Male	brain
7	chr14:64856000-64913000	Weak transcription	Small Intestine	intestine
8	chr14:64856200-64857200	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr14:64856200-64857200	Enhancers	Primary B cells from peripheral blood	blood
10	chr14:64856200-64857400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr14:64856200-64857400	Weak transcription	Fetal Intestine Small	intestine
12	chr14:64856200-64857600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr14:64856200-64858600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr14:64856200-64858600	Weak transcription	Aorta	Aorta
15	chr14:64856200-64858800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr14:64856200-64860200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr14:64856200-64860200	Weak transcription	Ovary	ovary
18	chr14:64856200-64860200	Weak transcription	Right Ventricle	heart
19	chr14:64856200-64860400	Weak transcription	Spleen	Spleen
20	chr14:64856200-64861200	Weak transcription	Brain Substantia Nigra	brain
21	chr14:64856200-64867200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr14:64856200-64870400	Weak transcription	Fetal Brain Female	brain
23	chr14:64856200-64870400	Weak transcription	Fetal Intestine Large	intestine
24	chr14:64856200-64882200	Weak transcription	HSMMtube	muscle
25	chr14:64856200-64883800	Weak transcription	Esophagus	oesophagus
26	chr14:64856200-64885600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr14:64856200-64886400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr14:64856200-64931200	Weak transcription	Stomach Mucosa	stomach
29	chr14:64856400-64857200	Weak transcription	Fetal Stomach	stomach
30	chr14:64856400-64857600	Weak transcription	Fetal Muscle Leg	muscle
31	chr14:64856400-64857800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr14:64856400-64857800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr14:64856400-64857800	Weak transcription	Brain Anterior Caudate	brain
34	chr14:64856400-64858200	Weak transcription	Fetal Thymus	thymus
35	chr14:64856400-64858800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr14:64856400-64858800	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr14:64856400-64860200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr14:64856400-64860200	Weak transcription	Gastric	stomach
39	chr14:64856400-64861400	Weak transcription	Colonic Mucosa	Colon
40	chr14:64856400-64870400	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr14:64856400-64870600	Weak transcription	Psoas Muscle	Psoas
42	chr14:64856400-64875800	Weak transcription	Thymus	Thymus
43	chr14:64856400-64877800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr14:64856400-64882400	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr14:64856600-64857200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr14:64856600-64857200	Flanking Active TSS	Liver	Liver
47	chr14:64856600-64857400	Weak transcription	Fetal Kidney	kidney
48	chr14:64856600-64857600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr14:64856600-64858200	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr14:64856600-64858200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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