Variant report

Variant	rs17115860
Chromosome Location	chr14:45636507-45636508
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10129236	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10130368	1.00[CHB][hapmap]
rs10130377	1.00[CHB][hapmap]
rs10137415	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10138997	1.00[CHB][hapmap]
rs10141474	1.00[CHB][hapmap]
rs10142759	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10143508	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10143794	0.89[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10149578	0.89[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.93[MEX][hapmap];0.82[TSI][hapmap];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10151937	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10220594	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11157433	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11845507	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12433547	0.86[CHB][hapmap];0.85[CHD][hapmap]
rs12433565	0.86[CHB][hapmap];0.85[CHD][hapmap]
rs1252957	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1252959	0.89[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.89[YRI][hapmap];0.83[EUR][1000 genomes]
rs1252960	0.89[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.83[EUR][1000 genomes]
rs1252963	0.83[EUR][1000 genomes]
rs1252966	0.93[ASW][hapmap];0.89[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.93[LWK][hapmap];0.94[MEX][hapmap];0.88[MKK][hapmap];0.87[TSI][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1266209	0.86[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.94[MEX][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes]
rs1268576	0.93[ASW][hapmap];0.89[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.96[LWK][hapmap];0.94[MEX][hapmap];0.91[MKK][hapmap];0.87[TSI][hapmap];0.89[YRI][hapmap];0.83[EUR][1000 genomes]
rs1367580	0.82[ASW][hapmap];0.90[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1431050	1.00[CHB][hapmap];0.85[CHD][hapmap];0.90[GIH][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17115912	1.00[ASW][hapmap];0.89[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.96[LWK][hapmap];0.94[MEX][hapmap];0.86[MKK][hapmap];0.87[TSI][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs17636302	0.86[CHB][hapmap]
rs1969713	0.82[EUR][1000 genomes]
rs2033385	1.00[CHB][hapmap]
rs2145148	0.86[CHB][hapmap]
rs2415883	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2750119	0.89[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.94[MEX][hapmap];0.87[TSI][hapmap];0.83[EUR][1000 genomes]
rs28421670	0.94[EUR][1000 genomes]
rs28531936	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3736772	1.00[CHB][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3825624	0.86[CHB][hapmap]
rs3825625	1.00[CHB][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];0.88[ASN][1000 genomes]
rs4900667	0.86[CHB][hapmap]
rs4906564	1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4906566	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4906568	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57607457	0.83[EUR][1000 genomes]
rs58790242	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6572296	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7141145	0.90[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7147246	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]
rs7148613	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]
rs7160373	0.93[ASW][hapmap];0.89[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.96[LWK][hapmap];0.94[MEX][hapmap];0.91[MKK][hapmap];0.87[TSI][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs73350248	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8009193	1.00[CHB][hapmap]
rs8017844	1.00[CHB][hapmap]
rs8020533	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs911040	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs911041	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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
15	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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17115860	FANCM	cis	lymphoblastoid	seeQTL
rs17115860	FANCM	cis	multi-tissue	Pritchard

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45606000-45679600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr14:45606400-45641200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr14:45607000-45660000	Weak transcription	Ovary	ovary
4	chr14:45607200-45638800	Weak transcription	Fetal Brain Female	brain
5	chr14:45607200-45639000	Weak transcription	Liver	Liver
6	chr14:45607400-45636600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr14:45607400-45650200	Weak transcription	NH-A	brain
8	chr14:45607400-45656000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr14:45607400-45678400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr14:45608000-45683000	Weak transcription	K562	blood
11	chr14:45608200-45639400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr14:45608400-45668400	Weak transcription	NHDF-Ad	bronchial
13	chr14:45610200-45636800	Weak transcription	NHEK	skin
14	chr14:45610200-45667400	Weak transcription	HMEC	breast
15	chr14:45614000-45638000	Weak transcription	Lung	lung
16	chr14:45614400-45637800	Weak transcription	Spleen	Spleen
17	chr14:45614400-45675000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr14:45614600-45639800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr14:45614800-45640600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr14:45614800-45666000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr14:45619000-45650800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr14:45622200-45638800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr14:45623200-45647200	Weak transcription	Fetal Heart	heart
24	chr14:45624800-45636600	Weak transcription	Hela-S3	cervix
25	chr14:45625000-45637800	Weak transcription	Small Intestine	intestine
26	chr14:45626800-45637800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr14:45629800-45680800	Weak transcription	HepG2	liver
28	chr14:45630000-45639400	Strong transcription	Dnd41	blood
29	chr14:45630800-45704400	Weak transcription	Fetal Brain Male	brain
30	chr14:45631000-45675000	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr14:45631400-45642600	Weak transcription	Thymus	Thymus
32	chr14:45631600-45638400	Weak transcription	Fetal Intestine Large	intestine
33	chr14:45631800-45639800	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr14:45631800-45711400	Weak transcription	Brain Hippocampus Middle	brain
35	chr14:45632000-45637400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr14:45632200-45637400	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr14:45632200-45637600	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr14:45632400-45636600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr14:45632400-45637000	Strong transcription	Primary B cells from cord blood	blood
40	chr14:45632400-45637600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:45632400-45637600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr14:45632400-45639200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr14:45632600-45658000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr14:45632800-45638000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr14:45632800-45707000	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr14:45633000-45636600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr14:45633000-45637400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr14:45633200-45636600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr14:45633200-45637000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr14:45633200-45637400	Strong transcription	Primary monocytes fromperipheralblood	blood

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