Variant report

Variant	rs4141578
Chromosome Location	chr14:45452037-45452038
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:45427812..45430166-chr14:45450519..45452752,2	MCF-7	breast:

Extended variants
information (count: 151 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:141)

rs_ID	r²[population]
rs10129173	0.98[ASN][1000 genomes]
rs10131066	0.81[ASN][1000 genomes]
rs10131615	0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10132389	1.00[ASN][1000 genomes]
rs10132547	0.85[CHB][hapmap];0.86[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10132949	1.00[CHB][hapmap];0.90[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10134071	0.86[CHB][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs10134598	0.89[JPT][hapmap]
rs10135085	0.89[JPT][hapmap]
rs10135890	1.00[CHB][hapmap];0.90[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10136008	1.00[ASN][1000 genomes]
rs10136855	1.00[ASN][1000 genomes]
rs10136926	0.94[ASN][1000 genomes]
rs10138272	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10139998	1.00[ASN][1000 genomes]
rs10140013	0.95[ASN][1000 genomes]
rs10140049	0.86[CHB][hapmap];0.90[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10140108	0.95[ASN][1000 genomes]
rs10140222	0.88[CHB][hapmap];0.90[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10140318	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10141474	0.87[JPT][hapmap]
rs10143806	0.89[JPT][hapmap]
rs10145092	0.86[CHB][hapmap];0.90[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10145267	1.00[JPT][hapmap]
rs10146395	0.86[ASN][1000 genomes]
rs10147499	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10149484	1.00[ASN][1000 genomes]
rs10152101	0.85[GIH][hapmap];1.00[JPT][hapmap]
rs10483549	0.86[EUR][1000 genomes]
rs1053667	0.86[CHB][hapmap];0.84[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11157423	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs11157424	1.00[CHB][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11844832	0.86[CHB][hapmap];0.84[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs11845088	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11845904	0.88[CHB][hapmap];0.85[GIH][hapmap];0.82[ASN][1000 genomes]
rs11845956	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11846656	1.00[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];1.00[ASN][1000 genomes]
rs11847336	0.89[JPT][hapmap]
rs11848799	1.00[CHB][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11849208	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11849583	1.00[ASN][1000 genomes]
rs11850363	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11852210	0.85[GIH][hapmap]
rs12100842	1.00[CHB][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs17092465	0.85[EUR][1000 genomes]
rs17115611	0.83[EUR][1000 genomes]
rs17115612	0.85[EUR][1000 genomes]
rs17115619	0.85[EUR][1000 genomes]
rs17115633	0.86[EUR][1000 genomes]
rs17115657	0.86[EUR][1000 genomes]
rs17115703	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17115718	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17115787	0.86[CHB][hapmap];0.84[CHD][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs17115809	0.89[JPT][hapmap]
rs17115811	0.89[JPT][hapmap]
rs2016738	0.89[JPT][hapmap]
rs2295158	1.00[GIH][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs2295160	0.90[EUR][1000 genomes]
rs28448551	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs28517769	1.00[ASN][1000 genomes]
rs28558522	0.95[ASN][1000 genomes]
rs28572336	0.97[ASN][1000 genomes]
rs28594810	1.00[ASN][1000 genomes]
rs28622413	1.00[ASN][1000 genomes]
rs28637857	0.89[JPT][hapmap]
rs28681969	1.00[ASN][1000 genomes]
rs28695721	0.95[ASN][1000 genomes]
rs28703636	1.00[ASN][1000 genomes]
rs28756151	0.92[ASN][1000 genomes]
rs2899960	1.00[ASN][1000 genomes]
rs3742591	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3783700	0.89[JPT][hapmap];0.86[AMR][1000 genomes]
rs3783702	0.89[JPT][hapmap]
rs3825627	0.89[JPT][hapmap]
rs3825629	1.00[JPT][hapmap]
rs56706956	1.00[ASN][1000 genomes]
rs56836063	0.81[ASN][1000 genomes]
rs57129780	0.80[ASN][1000 genomes]
rs57614513	1.00[ASN][1000 genomes]
rs57694277	0.86[ASN][1000 genomes]
rs60891427	1.00[ASN][1000 genomes]
rs61707578	1.00[ASN][1000 genomes]
rs6572290	0.85[GIH][hapmap]
rs66488071	0.98[ASN][1000 genomes]
rs66535982	1.00[ASN][1000 genomes]
rs66662385	0.95[ASN][1000 genomes]
rs67643245	1.00[ASN][1000 genomes]
rs7145831	0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7146566	0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7147644	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7147811	1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs7151557	0.80[ASN][1000 genomes]
rs7153451	0.81[ASN][1000 genomes]
rs7158846	1.00[CHB][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs72474137	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72621070	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73334112	0.80[ASN][1000 genomes]
rs73334114	0.81[ASN][1000 genomes]
rs73334131	0.88[ASN][1000 genomes]
rs73334135	0.95[ASN][1000 genomes]
rs73334148	0.95[ASN][1000 genomes]
rs73334154	0.95[ASN][1000 genomes]
rs73334157	0.95[ASN][1000 genomes]
rs73334162	0.95[ASN][1000 genomes]
rs73334165	0.95[ASN][1000 genomes]
rs73334172	0.95[ASN][1000 genomes]
rs73334176	0.95[ASN][1000 genomes]
rs73334913	0.84[ASN][1000 genomes]
rs73346344	0.94[ASN][1000 genomes]
rs73346360	0.98[ASN][1000 genomes]
rs73348060	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73348062	0.95[ASN][1000 genomes]
rs73348065	0.98[ASN][1000 genomes]
rs73348069	1.00[ASN][1000 genomes]
rs73348075	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348076	1.00[ASN][1000 genomes]
rs73348079	0.97[ASN][1000 genomes]
rs73348088	1.00[ASN][1000 genomes]
rs73348095	1.00[ASN][1000 genomes]
rs73348285	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73349816	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73349820	0.81[ASN][1000 genomes]
rs73349835	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73350007	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73350201	1.00[ASN][1000 genomes]
rs73352233	1.00[ASN][1000 genomes]
rs73352238	1.00[ASN][1000 genomes]
rs73352246	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73353641	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73353644	0.86[ASN][1000 genomes]
rs73353647	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73353650	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73353657	0.81[ASN][1000 genomes]
rs7493246	0.98[ASN][1000 genomes]
rs7493823	1.00[ASN][1000 genomes]
rs8006685	0.86[CHB][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs8015453	1.00[ASN][1000 genomes]
rs8018380	0.83[ASN][1000 genomes]
rs8022008	1.00[CHB][hapmap];0.90[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8022608	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9323106	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[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	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	esv1801436	chr14:45441932-45476174	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	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
10	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

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45434600-45465000	Weak transcription	Fetal Thymus	thymus
2	chr14:45436200-45486600	Weak transcription	Gastric	stomach
3	chr14:45436800-45461400	Weak transcription	K562	blood
4	chr14:45437000-45465000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:45437000-45465800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr14:45437000-45473200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr14:45437000-45496000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr14:45437000-45507400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr14:45437000-45514600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr14:45437200-45466000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr14:45437200-45469400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr14:45438000-45501800	Weak transcription	Fetal Kidney	kidney
13	chr14:45438200-45465400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr14:45439200-45464400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr14:45440000-45465400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr14:45440400-45465800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr14:45441400-45469400	Weak transcription	Primary T cells from cord blood	blood
18	chr14:45442200-45458000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr14:45442800-45457800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr14:45444400-45452400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:45448600-45455600	Weak transcription	Fetal Intestine Small	intestine
22	chr14:45448800-45458000	Weak transcription	Right Atrium	heart
23	chr14:45449200-45454400	Weak transcription	Primary B cells from cord blood	blood
24	chr14:45449200-45457800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr14:45449200-45460000	Weak transcription	Stomach Mucosa	stomach
26	chr14:45449200-45466000	Weak transcription	Fetal Intestine Large	intestine
27	chr14:45449400-45452200	Weak transcription	Fetal Brain Female	brain
28	chr14:45449400-45482000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr14:45449600-45459200	Weak transcription	Brain Substantia Nigra	brain
30	chr14:45449800-45465800	Weak transcription	Fetal Stomach	stomach
31	chr14:45450000-45457800	Weak transcription	Fetal Muscle Leg	muscle
32	chr14:45450000-45457800	Weak transcription	Left Ventricle	heart
33	chr14:45450000-45458000	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr14:45450000-45501800	Weak transcription	Lung	lung
35	chr14:45451400-45452800	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr14:45451400-45458200	Weak transcription	Psoas Muscle	Psoas
37	chr14:45451400-45466000	Weak transcription	Aorta	Aorta
38	chr14:45451600-45452400	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr14:45451600-45452400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr14:45451600-45452600	Enhancers	Brain Anterior Caudate	brain
41	chr14:45451600-45452800	Enhancers	Brain Angular Gyrus	brain
42	chr14:45451800-45452400	Enhancers	Brain Cingulate Gyrus	brain
43	chr14:45451800-45452400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr14:45451800-45452600	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr14:45452000-45452400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr14:45452000-45452800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr14:45452000-45452800	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr14:45452000-45459200	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr14:45452000-45482200	Weak transcription	NHDF-Ad	bronchial

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