Variant report

Variant	rs4650654
Chromosome Location	chr1:184125729-184125730
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	chr1:184124153..184125884-chr1:184130179..184133095,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1034477	1.00[ASN][1000 genomes]
rs10797941	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11576332	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11582961	1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11585756	1.00[ASN][1000 genomes]
rs12086203	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12402790	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12403064	0.94[ASN][1000 genomes]
rs12408961	0.94[ASN][1000 genomes]
rs12411231	0.94[ASN][1000 genomes]
rs12725276	1.00[ASN][1000 genomes]
rs12729638	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12734950	0.88[ASN][1000 genomes]
rs12751711	1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12759837	0.83[ASN][1000 genomes]
rs1409812	1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs16822379	1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1926873	0.88[ASN][1000 genomes]
rs1991170	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34010717	1.00[ASN][1000 genomes]
rs34876045	0.88[ASN][1000 genomes]
rs35178058	1.00[ASN][1000 genomes]
rs35514700	1.00[ASN][1000 genomes]
rs35947721	1.00[ASN][1000 genomes]
rs56239295	0.88[ASN][1000 genomes]
rs58322431	0.94[ASN][1000 genomes]
rs61477737	1.00[ASN][1000 genomes]
rs68130131	1.00[ASN][1000 genomes]
rs73053551	0.94[ASN][1000 genomes]
rs765224	1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs765225	1.00[JPT][hapmap];0.88[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	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1006655	chr1:183922288-184186677	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4650654	CACNA1E	cis	cerebellum	SCAN

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184114000-184125800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:184121000-184132200	Weak transcription	HSMMtube	muscle
3	chr1:184121600-184132000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr1:184122200-184129800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:184122400-184125800	Weak transcription	HSMM	muscle
6	chr1:184122400-184126200	Weak transcription	Fetal Lung	lung
7	chr1:184122400-184127600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:184122400-184127600	Weak transcription	Primary B cells from cord blood	blood
9	chr1:184122400-184128400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr1:184122400-184129800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr1:184122600-184131600	Weak transcription	Fetal Stomach	stomach
12	chr1:184123000-184126000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:184123000-184131400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr1:184123200-184127600	Weak transcription	Primary hematopoietic stem cells	blood
15	chr1:184123200-184127600	Weak transcription	NHDF-Ad	bronchial
16	chr1:184123200-184129600	Weak transcription	Right Atrium	heart
17	chr1:184123600-184125800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr1:184123600-184127600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:184123600-184128200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr1:184123600-184128200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr1:184123600-184130400	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr1:184123600-184132800	Weak transcription	Lung	lung
23	chr1:184123800-184125800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr1:184123800-184125800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:184123800-184125800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr1:184123800-184125800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr1:184123800-184126000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr1:184123800-184127600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:184123800-184127800	Weak transcription	Fetal Heart	heart
30	chr1:184123800-184132400	Weak transcription	Left Ventricle	heart
31	chr1:184124000-184127600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr1:184124400-184127600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr1:184124800-184126400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:184124800-184127400	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr1:184125000-184126800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:184125200-184126800	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr1:184125200-184127000	Enhancers	HMEC	breast
38	chr1:184125400-184126000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:184125400-184126200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:184125400-184126400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr1:184125600-184125800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr1:184125600-184125800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:184125600-184126000	Weak transcription	Fetal Kidney	kidney
44	chr1:184125600-184126200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr1:184125600-184126200	Enhancers	NHEK	skin
46	chr1:184125600-184126400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr1:184125600-184127000	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr1:184125600-184127600	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr1:184125600-184128000	Enhancers	Primary monocytes fromperipheralblood	blood

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