Variant report

Variant	rs10135653
Chromosome Location	chr14:45487120-45487121
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:45382331..45385097-chr14:45486659..45488651,2	MCF-7	breast:

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10129456	0.80[YRI][hapmap];1.00[AMR][1000 genomes]
rs10130162	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10130287	1.00[AMR][1000 genomes]
rs10131349	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10131585	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10131972	0.90[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10132260	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10132311	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10132401	0.90[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10132454	0.90[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10132492	0.80[YRI][hapmap];1.00[AMR][1000 genomes]
rs10132637	1.00[ASW][hapmap];0.85[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10132697	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10133723	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10134083	1.00[ASW][hapmap];0.80[LWK][hapmap];0.90[MKK][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10135422	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10138405	0.92[AFR][1000 genomes]
rs10139121	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10139464	0.94[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10140308	1.00[ASW][hapmap];0.87[LWK][hapmap];0.90[MKK][hapmap];0.90[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10140534	0.85[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10140661	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10142928	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10143572	0.87[ASW][hapmap];1.00[MEX][hapmap];0.84[YRI][hapmap];1.00[AMR][1000 genomes]
rs10144179	0.90[YRI][hapmap];0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10144729	0.85[YRI][hapmap]
rs10145279	1.00[ASW][hapmap];0.87[LWK][hapmap];0.95[MKK][hapmap];0.90[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10145792	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10145979	0.90[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10146384	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10146650	0.87[ASW][hapmap]
rs10146732	0.80[AFR][1000 genomes]
rs10146930	0.90[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10147794	0.90[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10147950	1.00[AMR][1000 genomes]
rs10148765	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[MKK][hapmap];0.90[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10149416	0.92[AFR][1000 genomes]
rs10149748	0.80[YRI][hapmap]
rs10150209	1.00[CHD][hapmap]
rs10150272	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10151061	1.00[AMR][1000 genomes]
rs10450913	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11157429	0.90[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12100992	0.90[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12101074	0.80[YRI][hapmap]
rs12437023	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs17092470	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17092482	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17115721	0.80[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17115735	0.90[YRI][hapmap]
rs17115737	0.94[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17115745	1.00[ASW][hapmap];0.84[LWK][hapmap];0.95[MKK][hapmap];0.90[YRI][hapmap];0.95[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs28403384	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28406098	0.87[ASW][hapmap];0.80[YRI][hapmap]
rs28408667	1.00[JPT][hapmap];1.00[MEX][hapmap];0.80[YRI][hapmap]
rs28469277	1.00[ASW][hapmap];0.84[LWK][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes]
rs28513220	1.00[AMR][1000 genomes]
rs28520409	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28536084	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28544334	1.00[AMR][1000 genomes]
rs28682279	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28685885	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28688045	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28690299	1.00[AMR][1000 genomes]
rs28802144	1.00[ASW][hapmap];0.80[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28831119	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4497593	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5020583	1.00[JPT][hapmap]
rs57818319	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59432531	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60726876	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7143763	1.00[ASW][hapmap];0.86[LWK][hapmap];1.00[MKK][hapmap];0.90[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7153359	0.87[MKK][hapmap]
rs8003388	0.90[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8008121	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8010366	1.00[AMR][1000 genomes]
rs8022599	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8022776	1.00[JPT][hapmap]
rs879340	1.00[AMR][1000 genomes]
rs961194	1.00[ASW][hapmap];0.80[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047886	chr14:45189653-45543182	Strong transcription Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv542079	chr14:45189653-45543182	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	nsv1042585	chr14:45401506-45497907	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers 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	21 gene(s)	inside rSNPs	diseases
7	nsv1045869	chr14:45415597-45487903	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	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
9	nsv1038384	chr14:45447187-45521583	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1260	chr14:45457666-45502671	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	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

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45437000-45496000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr14:45437000-45507400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr14:45437000-45514600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr14:45438000-45501800	Weak transcription	Fetal Kidney	kidney
5	chr14:45450000-45501800	Weak transcription	Lung	lung
6	chr14:45458200-45487400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr14:45458200-45487400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr14:45458200-45501400	Weak transcription	Colon Smooth Muscle	Colon
9	chr14:45458200-45507400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:45458800-45503400	Weak transcription	HUVEC	blood vessel
11	chr14:45459400-45507600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr14:45460800-45495800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr14:45461200-45501800	Weak transcription	HSMMtube	muscle
14	chr14:45461800-45501400	Weak transcription	NHEK	skin
15	chr14:45462400-45506200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr14:45463600-45507000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr14:45463800-45488200	Weak transcription	Fetal Brain Male	brain
18	chr14:45464400-45507400	Weak transcription	Spleen	Spleen
19	chr14:45464600-45507400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr14:45464600-45507600	Weak transcription	Hela-S3	cervix
21	chr14:45465600-45507800	Weak transcription	Fetal Heart	heart
22	chr14:45465800-45487600	Weak transcription	Placenta	Placenta
23	chr14:45465800-45490200	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr14:45465800-45524000	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr14:45465800-45552600	Weak transcription	HMEC	breast
26	chr14:45466200-45508600	Weak transcription	HepG2	liver
27	chr14:45466400-45487400	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr14:45466400-45487600	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr14:45466400-45488000	Weak transcription	Brain Angular Gyrus	brain
30	chr14:45466400-45503000	Weak transcription	Esophagus	oesophagus
31	chr14:45466400-45508000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr14:45466600-45487400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr14:45466600-45496000	Weak transcription	Pancreas	Pancrea
34	chr14:45466600-45501000	Weak transcription	Aorta	Aorta
35	chr14:45467600-45495800	Weak transcription	Brain Substantia Nigra	brain
36	chr14:45468000-45487400	Weak transcription	Brain Germinal Matrix	brain
37	chr14:45468400-45487800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr14:45468400-45492000	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr14:45468600-45507400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr14:45468800-45487400	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr14:45469400-45506200	Weak transcription	Psoas Muscle	Psoas
42	chr14:45470200-45487600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr14:45470400-45487400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr14:45470400-45487600	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr14:45470400-45493000	Weak transcription	Fetal Thymus	thymus
46	chr14:45470400-45507400	Weak transcription	Right Ventricle	heart
47	chr14:45470600-45487400	Weak transcription	Duodenum Mucosa	Duodenum
48	chr14:45470600-45487400	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr14:45470600-45492200	Weak transcription	Ovary	ovary
50	chr14:45470600-45501400	Weak transcription	Primary B cells from peripheral blood	blood

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