Variant report

Variant	rs7147246
Chromosome Location	chr14:45683554-45683555
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:45679707..45681443-chr14:45682954..45685431,2	MCF-7	breast:

Extended variants
information (count: 70 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10129236	0.85[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10130368	0.89[CHB][hapmap]
rs10130377	0.84[CHB][hapmap]
rs10137415	0.85[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10138997	0.86[CHB][hapmap]
rs10141474	0.85[CHB][hapmap]
rs10142759	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10143508	0.85[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10143794	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10149578	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10151937	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs10220594	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11157433	0.85[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11845507	0.85[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12433547	0.82[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12433565	0.82[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1252957	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1252959	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1252960	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1252963	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1252966	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1266209	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1268576	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1367580	1.00[CHB][hapmap];0.81[JPT][hapmap];0.88[YRI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1431050	0.86[CHB][hapmap]
rs17115860	0.85[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17115912	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17636302	0.82[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2033385	0.86[CHB][hapmap]
rs2145148	1.00[CHB][hapmap]
rs2415883	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2750119	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28531936	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34101857	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3736772	0.89[CHB][hapmap]
rs3825624	0.82[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3825625	0.86[CHB][hapmap]
rs3916169	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4900665	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4900666	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4900667	0.82[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4906564	0.89[CHB][hapmap]
rs4906566	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4906568	0.85[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57607457	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58790242	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6572296	0.85[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7141145	0.81[JPT][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7148613	0.85[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7160373	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73350248	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73350255	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8009193	0.86[CHB][hapmap]
rs8010456	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8017844	0.86[CHB][hapmap]
rs8020533	0.85[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.88[YRI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs911040	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs911041	0.85[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901841	chr14:45198196-45719643	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv1795667	chr14:45361680-45721052	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv1803131	chr14:45441932-45726848	Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv933364	chr14:45467086-45705844	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv901842	chr14:45506857-45713358	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv901843	chr14:45506857-45833490	Enhancers Strong transcription Flanking Active TSS Weak transcription 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 target site	40 gene(s)	inside rSNPs	diseases
7	nsv832785	chr14:45520670-45710741	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv530814	chr14:45604432-46198418	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
9	nsv901844	chr14:45606287-46063731	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
10	nsv1044445	chr14:45606779-45807171	Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
11	nsv901845	chr14:45619217-45772910	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
12	nsv1045297	chr14:45631260-45755992	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7147246	FANCM	cis	multi-tissue	Pritchard

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45630800-45704400	Weak transcription	Fetal Brain Male	brain
2	chr14:45631800-45711400	Weak transcription	Brain Hippocampus Middle	brain
3	chr14:45632800-45707000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr14:45633800-45721200	Weak transcription	Aorta	Aorta
5	chr14:45643800-45692800	Weak transcription	Fetal Kidney	kidney
6	chr14:45655600-45719200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr14:45656600-45691800	Weak transcription	Small Intestine	intestine
8	chr14:45660600-45707000	Weak transcription	Gastric	stomach
9	chr14:45660800-45703400	Weak transcription	Psoas Muscle	Psoas
10	chr14:45662800-45711400	Weak transcription	Brain Anterior Caudate	brain
11	chr14:45664000-45696000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr14:45668600-45683800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr14:45669000-45686800	Weak transcription	HSMMtube	muscle
14	chr14:45669600-45712000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:45669800-45699400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr14:45670000-45711400	Weak transcription	Brain Substantia Nigra	brain
17	chr14:45670000-45711600	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr14:45671000-45684600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr14:45671000-45698800	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr14:45672800-45687800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr14:45672800-45697800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr14:45673200-45706400	Strong transcription	Fetal Thymus	thymus
23	chr14:45674200-45687200	Strong transcription	Adipose Nuclei	Adipose
24	chr14:45674200-45687600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr14:45674600-45719200	Weak transcription	Colonic Mucosa	Colon
26	chr14:45675000-45684000	Strong transcription	Primary B cells from cord blood	blood
27	chr14:45675000-45685000	Strong transcription	Fetal Muscle Trunk	muscle
28	chr14:45675000-45688000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr14:45675000-45711600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr14:45675200-45711600	Weak transcription	Colon Smooth Muscle	Colon
31	chr14:45675400-45684400	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr14:45675600-45687600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr14:45675600-45687800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr14:45675600-45699800	Weak transcription	Right Ventricle	heart
35	chr14:45676200-45711600	Weak transcription	NHLF	lung
36	chr14:45677200-45704800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr14:45677600-45688400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr14:45678000-45690000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr14:45678200-45687600	Strong transcription	Primary B cells from peripheral blood	blood
40	chr14:45678400-45688200	Strong transcription	Duodenum Mucosa	Duodenum
41	chr14:45678400-45711800	Strong transcription	Dnd41	blood
42	chr14:45678600-45683600	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr14:45678600-45683600	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr14:45678600-45686800	Strong transcription	Primary T cells from cord blood	blood
45	chr14:45678600-45688000	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr14:45678800-45684000	Strong transcription	Primary hematopoietic stem cells	blood
47	chr14:45679000-45683800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr14:45679200-45691000	Weak transcription	Brain Cingulate Gyrus	brain
49	chr14:45679600-45683800	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr14:45679600-45684400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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