Variant report

Variant	rs961194
Chromosome Location	chr14:45442991-45442992
allele	C/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	chr14:45429641..45432850-chr14:45440380..45446083,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000179454	Chromatin interaction
ENSG00000198718	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10129201	0.83[YRI][hapmap];0.85[AFR][1000 genomes]
rs10129456	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10130162	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10130287	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10131349	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10131585	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10131595	0.94[YRI][hapmap];0.89[AFR][1000 genomes]
rs10131972	0.89[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10132260	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10132311	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10132401	0.89[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10132454	0.89[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10132492	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10132637	1.00[ASW][hapmap];1.00[MEX][hapmap];0.94[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10132697	1.00[AMR][1000 genomes]
rs10132762	1.00[MEX][hapmap]
rs10133723	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10134083	1.00[ASW][hapmap];1.00[MEX][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs10135422	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10135494	0.83[AFR][1000 genomes]
rs10135653	1.00[ASW][hapmap];0.80[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10138405	0.83[AFR][1000 genomes]
rs10139121	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10139464	0.94[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10140308	1.00[ASW][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10140534	0.85[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10140661	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10142928	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10143572	0.87[ASW][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10144179	0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10144729	0.85[YRI][hapmap]
rs10145279	1.00[ASW][hapmap];0.83[MKK][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10145792	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10145979	0.89[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10146384	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10146650	0.87[ASW][hapmap]
rs10146930	0.89[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10147413	1.00[MEX][hapmap];0.83[YRI][hapmap]
rs10147547	0.94[YRI][hapmap];0.85[AFR][1000 genomes]
rs10147794	0.89[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10147950	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10148765	1.00[ASW][hapmap];1.00[MEX][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10149416	0.84[AFR][1000 genomes]
rs10149748	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs10150272	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10151061	1.00[AMR][1000 genomes]
rs10450913	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11157429	0.89[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12100992	0.89[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12101074	0.80[YRI][hapmap]
rs17092470	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17092482	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17115678	1.00[MEX][hapmap];0.83[YRI][hapmap]
rs17115714	0.94[YRI][hapmap];0.86[AFR][1000 genomes]
rs17115721	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17115735	0.84[YRI][hapmap]
rs17115737	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17115745	1.00[ASW][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs28403384	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28406098	0.87[ASW][hapmap];0.80[YRI][hapmap]
rs28408667	0.89[YRI][hapmap]
rs28469277	1.00[ASW][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes]
rs28513220	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28520409	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28536084	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28544334	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28682279	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28685885	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28688045	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28690299	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28802144	1.00[ASW][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28831119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4497593	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57818319	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59432531	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60726876	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7143763	1.00[ASW][hapmap];1.00[MEX][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7153359	1.00[MEX][hapmap]
rs7494426	0.82[YRI][hapmap]
rs8003388	0.89[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8008121	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8010366	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8022599	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs879340	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	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	nsv1259	chr14:45419323-45444660	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
10	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
11	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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45428800-45443400	Active TSS	GM12878-XiMat	blood
2	chr14:45434600-45465000	Weak transcription	Fetal Thymus	thymus
3	chr14:45436200-45445600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr14:45436200-45486600	Weak transcription	Gastric	stomach
5	chr14:45436800-45461400	Weak transcription	K562	blood
6	chr14:45437000-45444200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr14:45437000-45449000	Weak transcription	Fetal Stomach	stomach
8	chr14:45437000-45451800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr14:45437000-45465000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr14:45437000-45465800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr14:45437000-45473200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr14:45437000-45496000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr14:45437000-45507400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr14:45437000-45514600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr14:45437200-45449400	Weak transcription	Liver	Liver
16	chr14:45437200-45466000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr14:45437200-45469400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr14:45438000-45501800	Weak transcription	Fetal Kidney	kidney
19	chr14:45438200-45444000	Weak transcription	Brain Substantia Nigra	brain
20	chr14:45438200-45448600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr14:45438200-45449000	Weak transcription	Adipose Nuclei	Adipose
22	chr14:45438200-45465400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr14:45438600-45445200	Weak transcription	Ovary	ovary
24	chr14:45438600-45448400	Weak transcription	Fetal Intestine Large	intestine
25	chr14:45438600-45451800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr14:45438800-45445000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr14:45438800-45447800	Weak transcription	Fetal Intestine Small	intestine
28	chr14:45438800-45449600	Weak transcription	Left Ventricle	heart
29	chr14:45439000-45443200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr14:45439200-45448400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr14:45439200-45464400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr14:45439400-45448400	Weak transcription	Psoas Muscle	Psoas
33	chr14:45439400-45449000	Weak transcription	Brain Angular Gyrus	brain
34	chr14:45440000-45465400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr14:45440400-45465800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr14:45441400-45448800	Weak transcription	Primary B cells from cord blood	blood
37	chr14:45441400-45449200	Weak transcription	Fetal Lung	lung
38	chr14:45441400-45469400	Weak transcription	Primary T cells from cord blood	blood
39	chr14:45442200-45443400	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr14:45442200-45445400	Weak transcription	Dnd41	blood
41	chr14:45442200-45458000	Weak transcription	Primary hematopoietic stem cells	blood
42	chr14:45442400-45443400	Enhancers	Brain Anterior Caudate	brain
43	chr14:45442600-45443800	Weak transcription	Fetal Heart	heart
44	chr14:45442800-45457800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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