Variant report

Variant	rs12587232
Chromosome Location	chr14:69027866-69027867
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68926068..68927730-chr14:69025760..69028340,2	MCF-7	breast:
2	chr14:69027264..69032673-chr14:69034374..69038789,10	MCF-7	breast:
3	chr14:69019342..69021876-chr14:69025131..69028551,3	MCF-7	breast:
4	chr14:69027252..69028985-chr14:69183923..69186800,2	MCF-7	breast:
5	chr14:69027748..69038857-chr14:69257974..69264472,24	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10134446	0.80[TSI][hapmap]
rs2189517	0.80[TSI][hapmap]
rs2525530	0.80[TSI][hapmap];0.81[EUR][1000 genomes]
rs2679	0.82[CEU][hapmap];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
3	esv1795754	chr14:69017623-69079110	Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv1832715	chr14:69017623-69079110	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12587232	ATP6V1D	cis	cerebellum	SCAN
rs12587232	SRSF5	cis	parietal	SCAN

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69017400-69030400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:69017800-69028200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr14:69018200-69029600	Weak transcription	Fetal Intestine Small	intestine
4	chr14:69019000-69028200	Weak transcription	Fetal Lung	lung
5	chr14:69019200-69028200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr14:69019400-69028400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr14:69019800-69029800	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr14:69020400-69028400	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr14:69020400-69030000	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr14:69021000-69036200	Weak transcription	Brain Germinal Matrix	brain
11	chr14:69021200-69028400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:69021200-69028400	Weak transcription	Fetal Kidney	kidney
13	chr14:69021200-69028600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr14:69021400-69030000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr14:69022000-69028600	Weak transcription	Thymus	Thymus
16	chr14:69022200-69031400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr14:69022400-69028400	Weak transcription	Right Ventricle	heart
18	chr14:69022400-69028600	Weak transcription	Stomach Mucosa	stomach
19	chr14:69022400-69029800	Weak transcription	NH-A	brain
20	chr14:69022600-69028000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr14:69022600-69028200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr14:69022600-69028400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr14:69022600-69029400	Weak transcription	HMEC	breast
24	chr14:69022600-69032600	Weak transcription	NHDF-Ad	bronchial
25	chr14:69022800-69028000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr14:69022800-69028000	Weak transcription	A549	lung
27	chr14:69022800-69028200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr14:69022800-69028200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr14:69022800-69028200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr14:69022800-69029200	Weak transcription	NHEK	skin
31	chr14:69023000-69028200	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr14:69023200-69028200	Weak transcription	HSMMtube	muscle
33	chr14:69023200-69028400	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr14:69023200-69029200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr14:69023200-69029400	Weak transcription	Aorta	Aorta
36	chr14:69024200-69029600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr14:69025200-69028000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr14:69025200-69028800	Weak transcription	Primary B cells from peripheral blood	blood
39	chr14:69025200-69029000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr14:69025200-69031200	Weak transcription	HUVEC	blood vessel
41	chr14:69025400-69028000	Weak transcription	Primary hematopoietic stem cells	blood
42	chr14:69025400-69028000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr14:69025400-69028400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr14:69025400-69029000	Weak transcription	Spleen	Spleen
45	chr14:69025400-69029800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr14:69026400-69033600	Enhancers	Ovary	ovary
47	chr14:69027200-69033400	Enhancers	Liver	Liver
48	chr14:69027400-69029800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr14:69027400-69029800	Enhancers	HepG2	liver
50	chr14:69027400-69030000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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