Variant report

Variant	rs7148613
Chromosome Location	chr14:45622558-45622559
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr14:45622492-45622573	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
FANCM	TF binding region

Extended variants
information (count: 74 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10129236	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10130368	1.00[CHB][hapmap]
rs10130377	1.00[CHB][hapmap]
rs10134598	0.86[MKK][hapmap]
rs10135890	0.81[MKK][hapmap]
rs10137415	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10138997	1.00[CHB][hapmap];0.81[MKK][hapmap]
rs10141474	1.00[CHB][hapmap]
rs10142759	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10143508	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10143794	0.89[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10149578	0.83[ASW][hapmap];0.89[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.81[MKK][hapmap];0.82[TSI][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10151937	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10220594	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11157433	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11845507	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];0.93[LWK][hapmap];0.83[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12100842	0.86[MKK][hapmap]
rs12433547	0.86[CHB][hapmap];0.85[CHD][hapmap]
rs12433565	0.86[CHB][hapmap];0.85[CHD][hapmap]
rs1252957	0.83[EUR][1000 genomes]
rs1252959	0.89[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.83[EUR][1000 genomes]
rs1252960	0.89[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1252963	0.83[EUR][1000 genomes]
rs1252966	0.89[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.87[TSI][hapmap];0.83[EUR][1000 genomes]
rs1266209	0.86[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes]
rs1268576	0.89[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.87[TSI][hapmap];0.83[EUR][1000 genomes]
rs1367580	0.90[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];0.83[MEX][hapmap];0.89[MKK][hapmap];0.95[TSI][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1431050	1.00[CHB][hapmap];0.85[CHD][hapmap];0.87[GIH][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17115860	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17115912	0.89[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.87[TSI][hapmap];0.85[EUR][1000 genomes]
rs17636302	0.86[CHB][hapmap]
rs1969713	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2033385	1.00[CHB][hapmap];0.90[MKK][hapmap]
rs2145148	0.86[CHB][hapmap]
rs2415883	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2750119	0.83[ASW][hapmap];0.89[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.83[MKK][hapmap];0.87[TSI][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs28421670	0.94[EUR][1000 genomes]
rs28531936	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28637857	0.85[MKK][hapmap]
rs3736772	1.00[CHB][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3825624	0.86[CHB][hapmap]
rs3825625	1.00[CHB][hapmap];0.81[MKK][hapmap]
rs3916169	0.86[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap]
rs4900664	0.86[CHB][hapmap];0.85[CHD][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4900667	0.86[CHB][hapmap]
rs4906564	1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4906566	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4906568	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.83[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57607457	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs58790242	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6572296	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7141145	0.90[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7147246	0.85[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7160373	0.89[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.87[TSI][hapmap];0.83[EUR][1000 genomes]
rs73350248	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8009193	1.00[CHB][hapmap];0.81[MKK][hapmap]
rs8017844	1.00[CHB][hapmap];0.81[MKK][hapmap]
rs8020533	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs911040	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs911041	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	esv1794986	chr14:45368685-45650813	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	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
9	esv1800510	chr14:45572528-45650813	Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	25 gene(s)	inside rSNPs	diseases
10	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
11	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
12	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
13	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
14	esv1795403	chr14:45622265-45650813	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7148613	FANCM	cis	lymphoblastoid	seeQTL
rs7148613	FANCM	cis	multi-tissue	Pritchard

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45606000-45634600	Weak transcription	Esophagus	oesophagus
2	chr14:45606000-45679600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr14:45606400-45641200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr14:45606600-45630600	Weak transcription	Fetal Muscle Leg	muscle
5	chr14:45606600-45634400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr14:45606600-45636400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr14:45607000-45636400	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr14:45607000-45660000	Weak transcription	Ovary	ovary
9	chr14:45607200-45633200	Weak transcription	Fetal Thymus	thymus
10	chr14:45607200-45634800	Weak transcription	HSMM	muscle
11	chr14:45607200-45638800	Weak transcription	Fetal Brain Female	brain
12	chr14:45607200-45639000	Weak transcription	Liver	Liver
13	chr14:45607400-45633200	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr14:45607400-45633200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr14:45607400-45633600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr14:45607400-45633600	Weak transcription	Adipose Nuclei	Adipose
17	chr14:45607400-45633600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr14:45607400-45634400	Weak transcription	Fetal Intestine Small	intestine
19	chr14:45607400-45635600	Weak transcription	Fetal Lung	lung
20	chr14:45607400-45636600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr14:45607400-45650200	Weak transcription	NH-A	brain
22	chr14:45607400-45656000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr14:45607400-45678400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr14:45607600-45624600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr14:45607600-45633400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr14:45607600-45633400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr14:45608000-45683000	Weak transcription	K562	blood
28	chr14:45608200-45633400	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr14:45608200-45635000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr14:45608200-45635600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr14:45608200-45636200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr14:45608200-45639400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr14:45608400-45633600	Weak transcription	HUVEC	blood vessel
34	chr14:45608400-45635000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr14:45608400-45668400	Weak transcription	NHDF-Ad	bronchial
36	chr14:45608800-45633000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr14:45609800-45623800	Weak transcription	Hela-S3	cervix
38	chr14:45610200-45636800	Weak transcription	NHEK	skin
39	chr14:45610200-45667400	Weak transcription	HMEC	breast
40	chr14:45610400-45633000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr14:45614000-45638000	Weak transcription	Lung	lung
42	chr14:45614200-45632400	Weak transcription	Primary B cells from peripheral blood	blood
43	chr14:45614200-45633400	Weak transcription	A549	lung
44	chr14:45614400-45629400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr14:45614400-45633200	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr14:45614400-45637800	Weak transcription	Spleen	Spleen
47	chr14:45614400-45675000	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr14:45614600-45625200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr14:45614600-45632600	Weak transcription	Primary T cells from cord blood	blood
50	chr14:45614600-45633200	Weak transcription	Aorta	Aorta

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