Variant report

Variant	rs10133531
Chromosome Location	chr14:68914810-68914811
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68909488..68911402-chr14:68914118..68916911,2	MCF-7	breast:
2	chr14:68914099..68917436-chr14:68918441..68922631,3	K562	blood:
3	chr14:68914261..68916800-chr14:68917548..68919754,2	MCF-7	breast:
4	chr14:68914558..68916684-chr14:69258747..69261233,2	MCF-7	breast:
5	chr14:68912559..68915110-chr14:68915133..68917933,3	MCF-7	breast:
6	chr14:68913998..68916839-chr14:68921023..68922631,2	K562	blood:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10129349	1.00[MEX][hapmap]
rs10131303	0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs10135443	0.83[ASN][1000 genomes]
rs10142381	0.91[ASN][1000 genomes]
rs10144394	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.88[ASN][1000 genomes]
rs10145082	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10145446	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10149278	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10151245	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11625077	0.83[ASN][1000 genomes]
rs11626013	0.83[ASN][1000 genomes]
rs11626015	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[ASN][1000 genomes]
rs11846851	0.83[ASN][1000 genomes]
rs1570107	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs17105573	1.00[MEX][hapmap]
rs17105601	0.84[ASW][hapmap];0.82[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs17105664	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[YRI][hapmap];0.88[ASN][1000 genomes]
rs28376370	0.83[ASN][1000 genomes]
rs28655994	0.83[ASN][1000 genomes]
rs3784127	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.83[ASN][1000 genomes]
rs60145217	0.91[ASN][1000 genomes]
rs7142184	0.83[ASN][1000 genomes]
rs7359118	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs9323509	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv832822	chr14:68874640-69060272	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68906800-68916000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr14:68908600-68917400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr14:68909000-68916200	Weak transcription	Primary B cells from peripheral blood	blood
4	chr14:68909600-68915000	Enhancers	Dnd41	blood
5	chr14:68911400-68915000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr14:68911800-68916200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr14:68911800-68916200	Weak transcription	Brain Anterior Caudate	brain
8	chr14:68911800-68916200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr14:68911800-68916200	Weak transcription	NH-A	brain
10	chr14:68911800-68917200	Weak transcription	Right Atrium	heart
11	chr14:68911800-68917600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr14:68911800-68921200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr14:68912000-68915000	Weak transcription	Pancreas	Pancrea
14	chr14:68912000-68916000	Weak transcription	Fetal Thymus	thymus
15	chr14:68912000-68916000	Weak transcription	NHDF-Ad	bronchial
16	chr14:68912000-68916200	Weak transcription	Brain Hippocampus Middle	brain
17	chr14:68912000-68916200	Weak transcription	Ovary	ovary
18	chr14:68912000-68916200	Weak transcription	HMEC	breast
19	chr14:68912000-68916800	Weak transcription	Brain Germinal Matrix	brain
20	chr14:68912000-68917600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr14:68912000-68917600	Weak transcription	Left Ventricle	heart
22	chr14:68912000-68917600	Weak transcription	Psoas Muscle	Psoas
23	chr14:68912200-68915400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr14:68912200-68916000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr14:68912200-68916000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr14:68912200-68916200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr14:68912200-68916200	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr14:68912200-68916200	Weak transcription	Adipose Nuclei	Adipose
29	chr14:68912200-68916600	Weak transcription	HSMMtube	muscle
30	chr14:68912200-68917200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr14:68912200-68917600	Weak transcription	Osteobl	bone
32	chr14:68912400-68916000	Weak transcription	HSMM	muscle
33	chr14:68912600-68916400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr14:68913400-68916200	Weak transcription	Thymus	Thymus
35	chr14:68913600-68915200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr14:68913600-68916400	Enhancers	Liver	Liver
37	chr14:68914000-68915400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr14:68914000-68916200	Weak transcription	Placenta	Placenta
39	chr14:68914000-68917800	Enhancers	Rectal Smooth Muscle	rectum
40	chr14:68914000-68918400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr14:68914200-68918600	Enhancers	Colon Smooth Muscle	Colon
42	chr14:68914400-68915000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr14:68914400-68916000	Weak transcription	Primary B cells from cord blood	blood
44	chr14:68914400-68916600	Enhancers	Stomach Smooth Muscle	stomach
45	chr14:68914400-68917000	Enhancers	A549	lung
46	chr14:68914400-68918800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr14:68914400-68919000	Enhancers	Fetal Stomach	stomach
48	chr14:68914600-68915000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr14:68914600-68915200	Enhancers	Fetal Muscle Leg	muscle
50	chr14:68914600-68916200	Enhancers	Fetal Lung	lung

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