Variant report

Variant	rs73280453
Chromosome Location	chr14:68334518-68334519
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68324487..68326340-chr14:68333176..68336067,3	MCF-7	breast:
2	chr14:68314860..68317034-chr14:68333283..68336153,3	MCF-7	breast:
3	chr14:68334516..68336214-chr14:68741208..68743110,2	MCF-7	breast:
4	chr14:68331430..68334740-chr14:69259249..69262451,3	MCF-7	breast:
5	chr14:68332688..68334540-chr14:68933334..68934849,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction
ENSG00000182185	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17104673	0.87[AFR][1000 genomes]
rs17104683	0.87[AFR][1000 genomes]
rs17104753	0.87[AFR][1000 genomes]
rs33929366	0.87[AFR][1000 genomes]
rs60059053	1.00[AFR][1000 genomes]
rs73280420	0.87[AFR][1000 genomes]
rs73280460	1.00[AFR][1000 genomes]
rs73280462	1.00[AFR][1000 genomes]
rs73280485	0.87[AFR][1000 genomes]
rs73280488	0.87[AFR][1000 genomes]
rs73280489	0.87[AFR][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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68300600-68336200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr14:68320800-68338600	Weak transcription	Primary B cells from peripheral blood	blood
3	chr14:68322600-68334800	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr14:68324000-68335600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr14:68324600-68354800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr14:68325600-68334800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr14:68327800-68335800	Weak transcription	NHEK	skin
8	chr14:68328000-68367800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr14:68331200-68338400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr14:68331600-68335000	Weak transcription	Fetal Muscle Leg	muscle
11	chr14:68331600-68357000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr14:68331800-68335200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr14:68332400-68334600	Strong transcription	Fetal Thymus	thymus
14	chr14:68332600-68334600	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr14:68333200-68334600	ZNF genes & repeats	Dnd41	blood
16	chr14:68333200-68334800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr14:68333400-68334800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
18	chr14:68333600-68334600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
19	chr14:68333800-68334600	Strong transcription	Primary T cells from cord blood	blood
20	chr14:68333800-68334800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
21	chr14:68333800-68336600	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr14:68334000-68334600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:68334000-68334600	ZNF genes & repeats	Primary B cells from cord blood	blood
24	chr14:68334200-68334600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr14:68334200-68334600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
26	chr14:68334200-68335000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
27	chr14:68334200-68335000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr14:68334200-68335200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr14:68334200-68348200	Weak transcription	Lung	lung
30	chr14:68334400-68334600	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr14:68334400-68334600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr14:68334400-68335000	ZNF genes & repeats	Fetal Intestine Small	intestine
33	chr14:68334400-68335200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
34	chr14:68334400-68335200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
35	chr14:68334400-68335200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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