Variant report

Variant	rs613787
Chromosome Location	chr6:74212827-74212828
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	6:74062967-74076046..6:74208016-74225478	GM12878	blood:
2	chr6:74212218..74214246-chr6:74217033..74219133,3	K562	blood:
3	6:74078047-74099067..6:74208016-74225478	GM12878	blood:
4	chr6:74210531..74213292-chr6:74229555..74231557,3	MCF-7	breast:
5	chr6:74212439..74215009-chr6:74224269..74226857,3	K562	blood:
6	6:74160392-74184826..6:74208016-74225478	GM12878	blood:
7	chr6:74212677..74214700-chr6:74230113..74232065,2	MCF-7	breast:
8	6:74099986-74112890..6:74208016-74225478	Hela-S3	cervix:
9	chr6:74212332..74214676-chr6:74216412..74218597,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000238464	Chromatin interaction
ENSG00000203907	Chromatin interaction
ENSG00000156508	Chromatin interaction
ENSG00000135297	Chromatin interaction
ENSG00000207023	Chromatin interaction
ENSG00000080007	Chromatin interaction
ENSG00000203909	Chromatin interaction
ENSG00000235174	Chromatin interaction
ENSG00000164430	Chromatin interaction
ENSG00000203908	Chromatin interaction
ENSG00000224221	Chromatin interaction
ENSG00000231332	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1128073	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12661226	0.82[ASN][1000 genomes]
rs1874229	0.82[EUR][1000 genomes]
rs1874230	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2073466	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2882584	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3822960	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4257823	0.94[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs514582	0.98[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs569652	0.98[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs577372	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs673265	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs693434	0.92[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs7741376	0.98[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs7751342	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7773147	0.84[AMR][1000 genomes]
rs9341425	0.81[ASN][1000 genomes]
rs9352001	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9352003	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9352004	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9352006	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9360681	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3410973	chr6:73716033-74419545	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv830693	chr6:74049342-74216080	Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv886158	chr6:74126084-74436825	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
4	nsv1027968	chr6:74155378-74521923	Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv538305	chr6:74155378-74521923	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
6	nsv1017716	chr6:74173173-74401162	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
7	nsv1023250	chr6:74189642-74605976	Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
8	nsv538306	chr6:74189642-74605976	Strong transcription Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
9	esv2763576	chr6:74197638-74277249	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	160 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs613787	EEF1A1	Cis_1M	lymphoblastoid	RTeQTL
rs613787	MTO1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74172200-74229200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:74181800-74214800	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr6:74187600-74228400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:74192000-74214200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr6:74192000-74225000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:74192200-74226000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:74192400-74225000	Weak transcription	Stomach Mucosa	stomach
8	chr6:74197800-74213200	Weak transcription	Fetal Heart	heart
9	chr6:74197800-74225200	Weak transcription	Colonic Mucosa	Colon
10	chr6:74198600-74213800	Weak transcription	Gastric	stomach
11	chr6:74198800-74213000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr6:74198800-74225000	Weak transcription	Fetal Brain Male	brain
13	chr6:74199000-74224200	Weak transcription	A549	lung
14	chr6:74200000-74215000	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr6:74200000-74215200	Strong transcription	Liver	Liver
16	chr6:74200400-74214000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr6:74200400-74214000	Strong transcription	Fetal Intestine Large	intestine
18	chr6:74200400-74214600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr6:74200600-74214600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr6:74200600-74214800	Strong transcription	Fetal Thymus	thymus
21	chr6:74200800-74214400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr6:74200800-74214800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr6:74201000-74215400	Strong transcription	Fetal Intestine Small	intestine
24	chr6:74201400-74214600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:74201800-74213200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr6:74203600-74214000	Strong transcription	Fetal Lung	lung
27	chr6:74203600-74214600	Strong transcription	Fetal Muscle Trunk	muscle
28	chr6:74203600-74215000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr6:74205600-74214600	Strong transcription	Primary T cells from cord blood	blood
30	chr6:74206000-74225000	Weak transcription	Pancreas	Pancrea
31	chr6:74207000-74213800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr6:74207000-74214000	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr6:74207000-74214200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr6:74207000-74214200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr6:74207000-74214200	Strong transcription	Adipose Nuclei	Adipose
36	chr6:74207000-74214600	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr6:74207000-74214600	Strong transcription	Fetal Stomach	stomach
38	chr6:74207000-74214800	Strong transcription	Primary B cells from peripheral blood	blood
39	chr6:74207000-74215000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr6:74207000-74215000	Strong transcription	Duodenum Mucosa	Duodenum
41	chr6:74207400-74213600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr6:74207400-74215000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr6:74208000-74225200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr6:74208200-74213600	Weak transcription	Brain Cingulate Gyrus	brain
45	chr6:74208200-74221400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr6:74208400-74213600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr6:74208400-74225000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr6:74208400-74226000	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr6:74208400-74226400	Weak transcription	Ovary	ovary
50	chr6:74209000-74224800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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