Variant report

Variant	rs17109008
Chromosome Location	chr14:71583287-71583288
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:71582880..71584385-chr14:71586431..71588999,2	MCF-7	breast:
2	chr14:71580577..71583944-chr14:71584359..71586589,3	K562	blood:
3	chr14:71576318..71579821-chr14:71580472..71584172,4	MCF-7	breast:

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10139448	0.83[ASN][1000 genomes]
rs10142792	0.85[ASN][1000 genomes]
rs10147124	0.94[ASN][1000 genomes]
rs10162428	0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10220379	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10483835	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11846003	0.91[ASN][1000 genomes]
rs11847244	0.88[ASN][1000 genomes]
rs11849831	0.91[ASN][1000 genomes]
rs12432180	0.84[ASN][1000 genomes]
rs12432587	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12433409	0.88[ASN][1000 genomes]
rs12435253	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12436649	0.87[ASN][1000 genomes]
rs12436920	0.92[ASN][1000 genomes]
rs12436970	0.92[ASN][1000 genomes]
rs12436976	0.92[ASN][1000 genomes]
rs12880918	0.92[ASN][1000 genomes]
rs12891445	0.92[ASN][1000 genomes]
rs12895177	0.81[ASN][1000 genomes]
rs12896855	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1468469	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17093729	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17108711	0.81[ASN][1000 genomes]
rs17108753	0.81[ASN][1000 genomes]
rs17108755	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17108869	0.86[ASN][1000 genomes]
rs17108873	0.87[ASN][1000 genomes]
rs17108897	0.90[ASN][1000 genomes]
rs1978163	0.92[ASN][1000 genomes]
rs2051865	0.83[ASN][1000 genomes]
rs2158998	0.92[ASN][1000 genomes]
rs2286312	0.92[ASN][1000 genomes]
rs2286314	0.92[ASN][1000 genomes]
rs2526891	0.81[ASN][1000 genomes]
rs28371425	0.85[ASN][1000 genomes]
rs34007279	0.87[ASN][1000 genomes]
rs34119685	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34740221	0.83[ASN][1000 genomes]
rs34927411	0.94[ASN][1000 genomes]
rs34968850	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34971726	0.92[ASN][1000 genomes]
rs34998980	0.88[ASN][1000 genomes]
rs35041597	0.81[ASN][1000 genomes]
rs35092982	0.81[ASN][1000 genomes]
rs35168506	0.81[ASN][1000 genomes]
rs35523654	0.88[ASN][1000 genomes]
rs35714454	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs35725944	0.83[ASN][1000 genomes]
rs36089307	0.90[ASN][1000 genomes]
rs4488390	0.83[ASN][1000 genomes]
rs4614662	0.89[ASN][1000 genomes]
rs4902872	0.92[ASN][1000 genomes]
rs4902873	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4902874	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4902877	0.89[ASN][1000 genomes]
rs4902878	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4902882	0.91[ASN][1000 genomes]
rs4902883	0.92[ASN][1000 genomes]
rs4902884	0.87[ASN][1000 genomes]
rs61990447	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71425229	0.81[ASN][1000 genomes]
rs71425386	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7146777	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7147788	0.87[ASN][1000 genomes]
rs7148530	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7152435	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7157279	0.87[ASN][1000 genomes]
rs7158548	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs73297555	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7492431	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8015773	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs917066	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9989203	0.85[ASN][1000 genomes]
rs9989204	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041980	chr14:71196358-71767339	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv542125	chr14:71196358-71767339	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1035416	chr14:71212882-71623271	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv542126	chr14:71212882-71623271	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv1037839	chr14:71263886-71625114	Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv542127	chr14:71263886-71625114	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv1038007	chr14:71269747-71667680	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv565043	chr14:71395604-71625112	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv1036929	chr14:71469148-71683412	Strong transcription Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv1044090	chr14:71496198-71780026	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71538800-71584800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:71552000-71588400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:71559800-71584000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr14:71564000-71583600	Weak transcription	Fetal Brain Male	brain
5	chr14:71566800-71583400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr14:71566800-71585800	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr14:71567200-71583800	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr14:71572200-71585400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr14:71572600-71584400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr14:71573600-71583800	Strong transcription	HSMM	muscle
11	chr14:71575800-71586600	Weak transcription	Right Ventricle	heart
12	chr14:71575800-71588200	Weak transcription	Aorta	Aorta
13	chr14:71575800-71589800	Weak transcription	Fetal Brain Female	brain
14	chr14:71576400-71590400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr14:71576600-71584600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr14:71576600-71584800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr14:71576800-71584000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr14:71576800-71584600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr14:71576800-71584600	Weak transcription	Fetal Muscle Leg	muscle
20	chr14:71576800-71584600	Weak transcription	NHLF	lung
21	chr14:71576800-71588200	Weak transcription	Spleen	Spleen
22	chr14:71576800-71597000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr14:71577000-71583400	Weak transcription	Gastric	stomach
24	chr14:71577000-71583600	Weak transcription	Brain Anterior Caudate	brain
25	chr14:71577000-71584800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr14:71577000-71584800	Weak transcription	Pancreas	Pancrea
27	chr14:71577000-71585200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr14:71577000-71585400	Weak transcription	Fetal Kidney	kidney
29	chr14:71577000-71586800	Weak transcription	Fetal Muscle Trunk	muscle
30	chr14:71577000-71588200	Weak transcription	Lung	lung
31	chr14:71577000-71590800	Weak transcription	Brain Germinal Matrix	brain
32	chr14:71577600-71584200	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr14:71577600-71584400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr14:71577600-71584600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr14:71577600-71584600	Weak transcription	Fetal Lung	lung
36	chr14:71577600-71584800	Weak transcription	HSMMtube	muscle
37	chr14:71577600-71585000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr14:71577600-71585200	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr14:71577600-71585400	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr14:71577600-71587400	Weak transcription	Primary T cells from cord blood	blood
41	chr14:71577600-71589600	Weak transcription	Stomach Smooth Muscle	stomach
42	chr14:71577800-71587400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr14:71578200-71584400	Weak transcription	NHDF-Ad	bronchial
44	chr14:71578200-71585600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr14:71578400-71587400	Weak transcription	A549	lung
46	chr14:71578400-71587800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr14:71578600-71584600	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr14:71578600-71586800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr14:71578600-71588600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr14:71578800-71583600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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