Variant report

Variant	rs1008455
Chromosome Location	chr1:47673802-47673803
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 5 )

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

rs_ID	r²[population]
rs13373881	0.85[AFR][1000 genomes]
rs1419051	0.82[ASN][1000 genomes]
rs2181223	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2249665	0.95[CHB][hapmap];0.91[CHD][hapmap];0.85[MEX][hapmap];0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2758742	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2798349	0.90[CHB][hapmap]
rs2798355	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2821083	0.81[ASN][1000 genomes]
rs2821084	0.82[CHB][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs2821085	0.82[ASN][1000 genomes]
rs2821086	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs1008455	KIF2C	cis	cerebellum	SCAN
rs1008455	MPL	cis	parietal	SCAN
rs1008455	DMAP1	cis	cerebellum	SCAN
rs1008455	LRRC41	cis	cerebellum	SCAN
rs1008455	FOXE3	cis	cerebellum	SCAN

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47659000-47675800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr1:47664600-47676000	Weak transcription	K562	blood
3	chr1:47671400-47674600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:47673200-47674200	Enhancers	HUVEC	blood vessel
5	chr1:47673200-47674800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:47673400-47674000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
7	chr1:47673400-47674200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:47673400-47674800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:47673400-47675600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:47673400-47677600	Enhancers	HMEC	breast
11	chr1:47673600-47674000	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
12	chr1:47673600-47674000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
13	chr1:47673600-47674200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:47673600-47674400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:47673600-47674400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:47673600-47674800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:47673600-47674800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:47673600-47675000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:47673600-47675000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:47673600-47675000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
21	chr1:47673600-47675200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr1:47673600-47676600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:47673800-47674000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
24	chr1:47673800-47674000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
25	chr1:47673800-47674000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
26	chr1:47673800-47674000	Enhancers	Brain Germinal Matrix	brain
27	chr1:47673800-47674400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr1:47673800-47674400	Bivalent Enhancer	NHEK	skin
29	chr1:47673800-47674800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:47673800-47675000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
31	chr1:47673800-47676000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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