Variant report

Variant	rs10930203
Chromosome Location	chr2:151503926-151503927
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10186504	0.97[EUR][1000 genomes]
rs10188741	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10196763	0.89[EUR][1000 genomes]
rs10201751	0.97[EUR][1000 genomes]
rs10432416	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10497064	0.98[ASN][1000 genomes]
rs10497067	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10497068	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10803803	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10930198	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11894862	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11899711	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12052383	0.81[CHB][hapmap]
rs12473120	0.98[ASN][1000 genomes]
rs12614085	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13019271	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13416697	0.90[EUR][1000 genomes]
rs13421850	0.90[EUR][1000 genomes]
rs13430342	0.90[EUR][1000 genomes]
rs1519782	0.97[EUR][1000 genomes]
rs16828368	0.81[CHB][hapmap]
rs16828577	0.89[EUR][1000 genomes]
rs2247416	0.98[ASN][1000 genomes]
rs2290815	0.98[ASN][1000 genomes]
rs2290816	0.98[ASN][1000 genomes]
rs2341059	0.81[CHB][hapmap];0.93[TSI][hapmap];0.80[ASN][1000 genomes]
rs2341060	0.90[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2341061	0.90[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2341062	0.90[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.98[ASN][1000 genomes]
rs2341063	0.98[ASN][1000 genomes]
rs2341064	0.90[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2341065	0.86[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2341066	0.90[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2341067	0.95[ASN][1000 genomes]
rs2341068	0.90[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2341071	0.98[ASN][1000 genomes]
rs2341072	0.93[ASN][1000 genomes]
rs2341073	0.95[ASN][1000 genomes]
rs2341074	0.98[ASN][1000 genomes]
rs2341075	0.93[ASN][1000 genomes]
rs2341078	0.98[ASN][1000 genomes]
rs2341081	0.98[ASN][1000 genomes]
rs2341082	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2341083	0.98[ASN][1000 genomes]
rs2341084	0.98[ASN][1000 genomes]
rs2341085	0.98[ASN][1000 genomes]
rs2341086	0.98[ASN][1000 genomes]
rs2341087	0.98[ASN][1000 genomes]
rs2341088	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2341089	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2341090	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2341091	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2879931	0.98[ASN][1000 genomes]
rs2879932	1.00[EUR][1000 genomes]
rs4233665	0.98[ASN][1000 genomes]
rs4233666	0.98[ASN][1000 genomes]
rs4233667	0.98[ASN][1000 genomes]
rs4297879	0.90[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.98[ASN][1000 genomes]
rs4334493	0.81[CHB][hapmap];0.80[ASN][1000 genomes]
rs4365460	0.98[ASN][1000 genomes]
rs4380232	0.98[ASN][1000 genomes]
rs4408725	0.98[ASN][1000 genomes]
rs4514872	0.98[ASN][1000 genomes]
rs4530365	0.98[ASN][1000 genomes]
rs4530366	0.98[ASN][1000 genomes]
rs4600650	0.98[ASN][1000 genomes]
rs4664150	0.98[ASN][1000 genomes]
rs4664689	0.90[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.98[ASN][1000 genomes]
rs4664692	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6710003	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71338158	0.81[ASN][1000 genomes]
rs7557930	0.98[ASN][1000 genomes]
rs7559963	0.82[ASN][1000 genomes]
rs7560326	0.98[ASN][1000 genomes]
rs7562436	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7569499	0.98[ASN][1000 genomes]
rs7593427	0.98[ASN][1000 genomes]
rs7597424	0.98[ASN][1000 genomes]
rs7602198	0.98[ASN][1000 genomes]
rs9287861	0.98[ASN][1000 genomes]
rs9287862	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001838	chr2:150819672-151745876	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv535980	chr2:150819672-151745876	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv532473	chr2:151164210-151701860	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv834415	chr2:151374254-151558649	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	esv2757836	chr2:151457277-151844210	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	esv2759096	chr2:151457277-151844210	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	esv2756950	chr2:151502539-151749973	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10930203	ARL5A	cis	cerebellum	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151494600-151504600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:151501600-151519400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:151502200-151504400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr2:151502200-151505200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr2:151503000-151504000	Enhancers	Osteobl	bone
6	chr2:151503400-151504000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:151503400-151504000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:151503400-151504000	Enhancers	NHLF	lung
9	chr2:151503400-151505400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:151503600-151504000	Enhancers	A549	lung
11	chr2:151503600-151504400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr2:151503600-151505000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:151503600-151505600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:151503800-151504000	Enhancers	Muscle Satellite Cultured Cells	--
15	chr2:151503800-151504000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:151503800-151504400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:151503800-151504600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:151503800-151504800	Enhancers	H9 Cell Line	embryonic stem cell
19	chr2:151503800-151504800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:151503800-151504800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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