Variant report

Variant	rs12589097
Chromosome Location	chr14:81230870-81230871
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:81226988..81229191-chr14:81230301..81232376,2	MCF-7	breast:
2	chr14:81230364..81233121-chr14:81236333..81239147,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100629	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10498550	1.00[AFR][1000 genomes]
rs12586869	0.83[AFR][1000 genomes]
rs12588767	0.80[ASN][1000 genomes]
rs17111040	1.00[AFR][1000 genomes]
rs17111069	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17111113	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs17111154	0.80[ASN][1000 genomes]
rs2371415	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35654991	0.80[ASN][1000 genomes]
rs73338175	0.80[ASN][1000 genomes]
rs73338184	0.80[ASN][1000 genomes]
rs73344643	0.80[ASN][1000 genomes]
rs73344651	0.80[ASN][1000 genomes]
rs73344656	0.80[ASN][1000 genomes]
rs73344662	0.80[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	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1035295	chr14:81180999-81236636	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81192800-81305400	Weak transcription	Primary B cells from cord blood	blood
2	chr14:81199800-81248600	Weak transcription	Primary T cells from cord blood	blood
3	chr14:81205000-81261000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr14:81207200-81232600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr14:81207600-81265400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr14:81208400-81240400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr14:81208800-81232400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr14:81209600-81248200	Weak transcription	HSMM	muscle
9	chr14:81213400-81231200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr14:81215800-81236200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr14:81221000-81238600	Weak transcription	Ovary	ovary
12	chr14:81221400-81238600	Weak transcription	Thymus	Thymus
13	chr14:81221600-81236200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr14:81222400-81260000	Weak transcription	Fetal Brain Female	brain
15	chr14:81223200-81250800	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr14:81223400-81234000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr14:81227000-81260800	Weak transcription	NH-A	brain
18	chr14:81227400-81258000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr14:81227600-81236200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr14:81228200-81240800	Weak transcription	Fetal Thymus	thymus
21	chr14:81229400-81231200	Weak transcription	Dnd41	blood
22	chr14:81229400-81238800	Weak transcription	Left Ventricle	heart
23	chr14:81229600-81234200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr14:81229800-81231000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr14:81229800-81236200	Weak transcription	NHDF-Ad	bronchial
26	chr14:81230800-81231400	Enhancers	NHEK	skin
27	chr14:81230800-81232000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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