Variant report

Variant	rs73280438
Chromosome Location	chr14:68304843-68304844
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68303849..68305592-chr14:68401335..68404322,2	MCF-7	breast:
2	chr14:68302059..68305269-chr14:68407604..68409424,3	MCF-7	breast:
3	chr14:68302688..68305578-chr14:69257558..69260050,2	MCF-7	breast:
4	chr14:68304077..68306531-chr14:68406424..68408900,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs34805563	1.00[AMR][1000 genomes]
rs35080917	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35106153	1.00[AMR][1000 genomes]
rs35575056	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35577122	1.00[AMR][1000 genomes]
rs35917338	1.00[AMR][1000 genomes]
rs57048278	1.00[AMR][1000 genomes]
rs58431859	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58724136	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59429458	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59922989	1.00[AMR][1000 genomes]
rs60013875	1.00[AMR][1000 genomes]
rs60273960	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60782801	1.00[AMR][1000 genomes]
rs61011477	1.00[AMR][1000 genomes]
rs61214213	1.00[AMR][1000 genomes]
rs61341378	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61584136	1.00[AMR][1000 genomes]
rs73274539	1.00[AMR][1000 genomes]
rs73276671	1.00[AMR][1000 genomes]
rs73276676	1.00[AMR][1000 genomes]
rs73276687	1.00[AMR][1000 genomes]
rs73278432	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278469	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73280405	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73280424	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73280429	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73280465	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73280477	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73280481	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73280491	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73282413	1.00[AMR][1000 genomes]
rs73282473	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042536	chr14:68136913-68343198	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv542122	chr14:68136913-68343198	Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1054697	chr14:68202004-68345982	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 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	chr14:68287400-68312800	Weak transcription	Aorta	Aorta
2	chr14:68287400-68312800	Weak transcription	Esophagus	oesophagus
3	chr14:68287400-68315200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr14:68287600-68306000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr14:68287600-68317800	Weak transcription	Spleen	Spleen
6	chr14:68287800-68305000	Weak transcription	Fetal Kidney	kidney
7	chr14:68287800-68306400	Weak transcription	Fetal Lung	lung
8	chr14:68287800-68310600	Weak transcription	Brain Hippocampus Middle	brain
9	chr14:68287800-68318200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr14:68288000-68306400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr14:68288000-68306400	Weak transcription	HepG2	liver
12	chr14:68288000-68306800	Weak transcription	A549	lung
13	chr14:68288200-68306200	Weak transcription	NHDF-Ad	bronchial
14	chr14:68291400-68312600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr14:68294200-68315000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr14:68294200-68316600	Weak transcription	Placenta	Placenta
17	chr14:68294400-68306400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr14:68294400-68312400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr14:68294600-68305400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr14:68294600-68312000	Weak transcription	Fetal Stomach	stomach
21	chr14:68294600-68312400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr14:68294600-68318200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr14:68294800-68306600	Weak transcription	Fetal Thymus	thymus
24	chr14:68294800-68312800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr14:68295600-68306000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr14:68295600-68306200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr14:68298200-68312800	Weak transcription	Primary T cells from cord blood	blood
28	chr14:68300600-68312800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr14:68300600-68336200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr14:68300800-68306400	Weak transcription	NHEK	skin
31	chr14:68301800-68312800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:68302600-68305800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr14:68302800-68305000	Strong transcription	Dnd41	blood
34	chr14:68303000-68315000	Weak transcription	Primary B cells from peripheral blood	blood
35	chr14:68303200-68305800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr14:68303200-68305800	Weak transcription	Thymus	Thymus
37	chr14:68303200-68311600	Weak transcription	Primary hematopoietic stem cells	blood
38	chr14:68303200-68311600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr14:68303200-68315000	Weak transcription	Primary B cells from cord blood	blood
40	chr14:68303200-68318200	Weak transcription	Ovary	ovary
41	chr14:68303200-68331800	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr14:68303400-68305000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr14:68303400-68312000	Weak transcription	Fetal Intestine Small	intestine
44	chr14:68303600-68305200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr14:68303600-68305400	Weak transcription	GM12878-XiMat	blood
46	chr14:68303800-68312800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr14:68304000-68306200	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr14:68304600-68306000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr14:68304800-68305600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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