Variant report

Variant	rs10465483
Chromosome Location	chr1:174988963-174988964
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	chr1:174966455..174979047-chr1:174985921..174994239,29	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116161	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10489330	1.00[YRI][hapmap]
rs4650666	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs6658861	0.90[CHB][hapmap];0.97[CHD][hapmap];0.86[JPT][hapmap]
rs6688577	0.90[CHB][hapmap];0.94[CHD][hapmap];0.86[JPT][hapmap];0.83[LWK][hapmap];0.93[MKK][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv947512	chr1:174984818-175000909	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10465483	KCNA5	trans	cerebellum	SCAN
rs10465483	CACYBP	cis	lymphoblastoid	seeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174970000-174991800	Weak transcription	Stomach Mucosa	stomach
2	chr1:174971000-174991600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:174973000-174990600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:174973600-174990400	Strong transcription	Primary T cells from cord blood	blood
5	chr1:174973800-174989800	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr1:174974200-174990200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr1:174974800-174989400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr1:174977400-174991800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:174977800-174991800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr1:174978200-174991400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr1:174983000-174991000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr1:174983000-174991600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr1:174983600-174991400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr1:174985600-174989400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:174986200-174991400	Weak transcription	Psoas Muscle	Psoas
16	chr1:174987000-174990200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:174987000-174991600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:174987000-174991600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr1:174987000-174991600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:174987000-174991600	Weak transcription	HSMM	muscle
21	chr1:174987000-174991800	Weak transcription	Esophagus	oesophagus
22	chr1:174987200-174990400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:174987200-174991400	Weak transcription	Brain Substantia Nigra	brain
24	chr1:174987200-174991600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr1:174987200-174991800	Weak transcription	Aorta	Aorta
26	chr1:174987200-174991800	Weak transcription	Ovary	ovary
27	chr1:174987200-174991800	Weak transcription	Pancreas	Pancrea
28	chr1:174987200-174992000	Weak transcription	Small Intestine	intestine
29	chr1:174987400-174991600	Weak transcription	Fetal Intestine Small	intestine
30	chr1:174987600-174990000	Weak transcription	NHEK	skin
31	chr1:174987600-174990200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr1:174987600-174990800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:174987600-174991000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr1:174987600-174991200	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr1:174987600-174991400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr1:174987600-174991600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr1:174987600-174991600	Weak transcription	Brain Hippocampus Middle	brain
38	chr1:174987600-174991600	Weak transcription	Fetal Lung	lung
39	chr1:174987600-174991600	Weak transcription	Rectal Smooth Muscle	rectum
40	chr1:174987600-174991600	Weak transcription	NH-A	brain
41	chr1:174987600-174991800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:174987600-174991800	Weak transcription	Brain Germinal Matrix	brain
43	chr1:174987800-174989600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr1:174987800-174990000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:174987800-174990000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:174987800-174990000	Weak transcription	Fetal Intestine Large	intestine
47	chr1:174987800-174990000	Weak transcription	HepG2	liver
48	chr1:174987800-174990200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr1:174987800-174990200	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr1:174987800-174990200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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