Variant report

Variant	rs7147644
Chromosome Location	chr14:45446360-45446361
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:45442937..45446932-chr14:45447950..45450960,3	MCF-7	breast:
2	chr14:45430346..45432834-chr14:45446058..45448249,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198718	Chromatin interaction
ENSG00000179454	Chromatin interaction

Extended variants
information (count: 148 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:138)

rs_ID	r²[population]
rs10129173	0.98[ASN][1000 genomes]
rs10131066	0.81[ASN][1000 genomes]
rs10131615	0.85[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10132389	1.00[ASN][1000 genomes]
rs10132547	0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10132949	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10134071	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs10134598	0.89[JPT][hapmap]
rs10135085	0.89[JPT][hapmap]
rs10135890	1.00[CHB][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	0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10140108	0.95[ASN][1000 genomes]
rs10140222	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10140318	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10145092	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10145267	0.90[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	1.00[JPT][hapmap]
rs10483549	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1053667	0.85[CHB][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];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11844832	0.85[CHB][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	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs11845956	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11846656	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11847336	0.89[JPT][hapmap]
rs11848799	1.00[CHB][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]
rs11851605	1.00[CEU][hapmap]
rs12100842	1.00[CHB][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]
rs17115674	1.00[CEU][hapmap]
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	0.85[CHB][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[CEU][hapmap];0.90[EUR][1000 genomes]
rs2295160	0.90[EUR][1000 genomes]
rs28448551	1.00[CHB][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[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3783700	0.86[AMR][1000 genomes]
rs3825627	0.89[JPT][hapmap]
rs3825629	0.90[JPT][hapmap]
rs4141578	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
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]
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	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7146566	0.88[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs7147811	1.00[CHB][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs7151557	0.80[ASN][1000 genomes]
rs7153451	0.81[ASN][1000 genomes]
rs7158846	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs72474137	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72621070	1.00[AFR][1000 genomes];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	0.85[CHB][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];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	nsv869289	chr14:44752382-45447415	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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

No data

Chromatin state (count:43 , 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	chr14:45437000-45449000	Weak transcription	Fetal Stomach	stomach
5	chr14:45437000-45451800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr14:45437000-45465000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr14:45437000-45465800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr14:45437000-45473200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr14:45437000-45496000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr14:45437000-45507400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr14:45437000-45514600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr14:45437200-45449400	Weak transcription	Liver	Liver
13	chr14:45437200-45466000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr14:45437200-45469400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr14:45438000-45501800	Weak transcription	Fetal Kidney	kidney
16	chr14:45438200-45448600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr14:45438200-45449000	Weak transcription	Adipose Nuclei	Adipose
18	chr14:45438200-45465400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr14:45438600-45448400	Weak transcription	Fetal Intestine Large	intestine
20	chr14:45438600-45451800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr14:45438800-45447800	Weak transcription	Fetal Intestine Small	intestine
22	chr14:45438800-45449600	Weak transcription	Left Ventricle	heart
23	chr14:45439200-45448400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr14:45439200-45464400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr14:45439400-45448400	Weak transcription	Psoas Muscle	Psoas
26	chr14:45439400-45449000	Weak transcription	Brain Angular Gyrus	brain
27	chr14:45440000-45465400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr14:45440400-45465800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr14:45441400-45448800	Weak transcription	Primary B cells from cord blood	blood
30	chr14:45441400-45449200	Weak transcription	Fetal Lung	lung
31	chr14:45441400-45469400	Weak transcription	Primary T cells from cord blood	blood
32	chr14:45442200-45458000	Weak transcription	Primary hematopoietic stem cells	blood
33	chr14:45442800-45457800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr14:45443400-45448600	Weak transcription	Brain Anterior Caudate	brain
35	chr14:45444000-45448800	Weak transcription	Fetal Muscle Leg	muscle
36	chr14:45444000-45451400	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr14:45444200-45448400	Weak transcription	Hela-S3	cervix
38	chr14:45444200-45448600	Weak transcription	Fetal Heart	heart
39	chr14:45444400-45452000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr14:45444400-45452400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:45444600-45451800	Weak transcription	GM12878-XiMat	blood
42	chr14:45445600-45448800	Weak transcription	Brain Substantia Nigra	brain
43	chr14:45445800-45448400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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