Variant report

Variant	rs8018014
Chromosome Location	chr14:45669205-45669206
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17115914	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs28565418	1.00[EUR][1000 genomes]
rs2899962	1.00[EUR][1000 genomes]
rs34097926	1.00[EUR][1000 genomes]
rs34402741	1.00[EUR][1000 genomes]
rs45607635	1.00[EUR][1000 genomes]
rs59375426	1.00[EUR][1000 genomes]
rs61746895	0.92[EUR][1000 genomes]
rs7141132	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];1.00[EUR][1000 genomes]
rs7143436	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7145397	1.00[EUR][1000 genomes]
rs7149582	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs73350258	1.00[EUR][1000 genomes]
rs8008760	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][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
rs8018014	FANCM	cis	multi-tissue	Pritchard

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45606000-45679600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr14:45607400-45678400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr14:45608000-45683000	Weak transcription	K562	blood
4	chr14:45614400-45675000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr14:45629800-45680800	Weak transcription	HepG2	liver
6	chr14:45630800-45704400	Weak transcription	Fetal Brain Male	brain
7	chr14:45631000-45675000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr14:45631800-45711400	Weak transcription	Brain Hippocampus Middle	brain
9	chr14:45632800-45707000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr14:45633800-45721200	Weak transcription	Aorta	Aorta
11	chr14:45635200-45678400	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr14:45635200-45678800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr14:45636000-45669800	Weak transcription	Fetal Stomach	stomach
14	chr14:45636000-45675400	Weak transcription	Fetal Intestine Small	intestine
15	chr14:45636400-45673800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr14:45636400-45675600	Weak transcription	Fetal Muscle Leg	muscle
17	chr14:45636600-45669800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr14:45636600-45675600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr14:45636600-45682800	Weak transcription	Fetal Lung	lung
20	chr14:45636800-45670600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr14:45636800-45671400	Weak transcription	Placenta	Placenta
22	chr14:45637000-45669600	Weak transcription	Hela-S3	cervix
23	chr14:45637000-45670600	Weak transcription	A549	lung
24	chr14:45637200-45671000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr14:45637600-45673200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr14:45643400-45681000	Weak transcription	Pancreas	Pancrea
27	chr14:45643800-45692800	Weak transcription	Fetal Kidney	kidney
28	chr14:45645600-45671200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr14:45654200-45680400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr14:45654600-45675600	Weak transcription	Thymus	Thymus
31	chr14:45655200-45675600	Weak transcription	Lung	lung
32	chr14:45655600-45719200	Weak transcription	Stomach Smooth Muscle	stomach
33	chr14:45655800-45680800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr14:45656200-45679400	Weak transcription	Fetal Brain Female	brain
35	chr14:45656600-45675000	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr14:45656600-45691800	Weak transcription	Small Intestine	intestine
37	chr14:45657000-45681000	Weak transcription	Brain Angular Gyrus	brain
38	chr14:45657000-45681000	Weak transcription	Esophagus	oesophagus
39	chr14:45657000-45681200	Weak transcription	Brain Germinal Matrix	brain
40	chr14:45657000-45681400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:45657200-45683400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr14:45657400-45675400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr14:45658000-45680800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr14:45658200-45680800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr14:45658600-45670000	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr14:45658600-45671200	Weak transcription	Liver	Liver
47	chr14:45658600-45675400	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr14:45658600-45678600	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr14:45658600-45680800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr14:45658600-45681200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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