Variant report

Variant	rs10013211
Chromosome Location	chr4:7008078-7008079
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:6989642..6991738-chr4:7006793..7008969,2	K562	blood:
2	chr4:7004705..7009453-chr4:7009806..7014166,7	K562	blood:
3	chr4:6994292..6996377-chr4:7005906..7008194,2	MCF-7	breast:
4	chr4:6989598..6991738-chr4:7007469..7010160,2	K562	blood:

Variant related genes	Relation type
ENSG00000132405	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10009332	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10013696	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10015163	0.93[ASW][hapmap];0.96[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.92[MEX][hapmap];0.88[MKK][hapmap];0.98[TSI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10019256	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10019900	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs10022657	0.92[CEU][hapmap];0.83[YRI][hapmap]
rs10022869	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10032908	0.92[CEU][hapmap]
rs10155208	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10804990	0.95[JPT][hapmap]
rs10937762	0.92[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap]
rs10937763	0.95[JPT][hapmap]
rs10937768	0.95[JPT][hapmap]
rs10937769	0.83[ASN][1000 genomes]
rs10937771	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11723686	0.84[ASN][1000 genomes]
rs11728984	1.00[JPT][hapmap]
rs11731681	0.82[ASN][1000 genomes]
rs11732389	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs12119	0.82[CEU][hapmap];0.81[CHD][hapmap];0.80[LWK][hapmap];0.87[MEX][hapmap];0.83[MKK][hapmap];0.82[TSI][hapmap]
rs12512922	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12648134	0.82[CEU][hapmap];0.83[GIH][hapmap];0.87[MEX][hapmap];0.85[MKK][hapmap];0.87[TSI][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12650200	0.92[CEU][hapmap];0.93[GIH][hapmap];0.87[MEX][hapmap];0.96[TSI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12650264	0.92[CEU][hapmap];0.95[GIH][hapmap];0.87[MEX][hapmap];0.88[MKK][hapmap];0.96[TSI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13140943	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13435015	0.85[JPT][hapmap]
rs17742611	1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17743234	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2301820	0.96[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.83[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2301821	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28380685	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28392702	0.82[ASN][1000 genomes]
rs34173965	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35490604	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35772786	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3857168	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3857169	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3857170	1.00[CEU][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3892145	0.93[ASW][hapmap];0.96[CEU][hapmap];0.85[CHB][hapmap];0.84[CHD][hapmap];0.95[GIH][hapmap];0.96[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3892976	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs41516949	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs4234790	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4261987	0.82[ASN][1000 genomes]
rs4315786	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.86[MKK][hapmap];0.98[TSI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4346651	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs4432749	0.90[JPT][hapmap]
rs4484301	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4608812	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs4689558	0.95[CHD][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.80[TSI][hapmap]
rs4689562	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs4689571	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4689572	0.85[ASW][hapmap];1.00[CEU][hapmap];0.88[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56307635	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58935653	0.81[ASN][1000 genomes]
rs6446552	0.83[CHD][hapmap];1.00[JPT][hapmap]
rs6446553	1.00[JPT][hapmap]
rs6831368	0.81[CHB][hapmap];0.82[CHD][hapmap];0.95[JPT][hapmap]
rs6834007	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6848114	0.81[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap]
rs7668673	0.85[JPT][hapmap]
rs7670187	0.82[CHB][hapmap];0.81[CHD][hapmap]
rs7672632	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9291121	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs9291123	0.90[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs9790586	0.82[CHD][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs9999127	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878530	chr4:6888932-7058473	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv34033	chr4:6973270-7390621	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv2757919	chr4:6988148-7269901	Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	esv2759221	chr4:6988148-7269901	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv428436	chr4:6988148-7269901	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv593547	chr4:7002344-7032180	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv469847	chr4:7003525-7168441	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv878531	chr4:7006541-7129556	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10013211	GRPEL1	cis	cerebellum	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:6990400-7008800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:6991000-7021800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:6993800-7008400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr4:6994000-7008600	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr4:6994000-7035600	Strong transcription	Fetal Stomach	stomach
6	chr4:6994000-7043200	Weak transcription	Right Atrium	heart
7	chr4:6994200-7035400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr4:6994400-7013400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr4:6994600-7021400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:6995000-7009200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr4:6995000-7020800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr4:6995200-7008400	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr4:6995200-7008600	Strong transcription	Fetal Intestine Small	intestine
14	chr4:6995400-7008600	Strong transcription	Fetal Intestine Large	intestine
15	chr4:6995400-7013600	Strong transcription	Fetal Thymus	thymus
16	chr4:6995800-7008200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:6995800-7008400	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr4:6995800-7032800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:6996000-7014800	Strong transcription	Primary B cells from peripheral blood	blood
20	chr4:6996000-7035200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr4:6996400-7034800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr4:6996600-7021400	Strong transcription	Brain Germinal Matrix	brain
23	chr4:6997800-7013800	Strong transcription	Thymus	Thymus
24	chr4:7000200-7021600	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr4:7000400-7008200	Strong transcription	HepG2	liver
26	chr4:7000600-7034400	Strong transcription	Dnd41	blood
27	chr4:7001200-7010600	Weak transcription	Fetal Heart	heart
28	chr4:7001200-7010800	Weak transcription	Small Intestine	intestine
29	chr4:7001400-7010400	Weak transcription	NHDF-Ad	bronchial
30	chr4:7001400-7034600	Strong transcription	Primary T cells from cord blood	blood
31	chr4:7001600-7008200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr4:7001600-7009600	Weak transcription	Stomach Mucosa	stomach
33	chr4:7001600-7017200	Strong transcription	Placenta	Placenta
34	chr4:7001600-7035200	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr4:7001600-7035400	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr4:7001800-7020000	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr4:7001800-7029000	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr4:7001800-7035000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr4:7002000-7034400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr4:7002200-7020600	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr4:7002200-7035400	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr4:7002400-7034400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr4:7002800-7008200	Weak transcription	A549	lung
44	chr4:7003400-7013800	Strong transcription	Spleen	Spleen
45	chr4:7003600-7009400	Strong transcription	Fetal Muscle Trunk	muscle
46	chr4:7003600-7032600	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr4:7003800-7008800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr4:7003800-7010400	Weak transcription	Fetal Brain Male	brain
49	chr4:7003800-7010600	Weak transcription	Ovary	ovary
50	chr4:7004000-7010600	Weak transcription	Pancreas	Pancrea

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