Variant report

Variant	rs495385
Chromosome Location	chr6:74352365-74352366
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:74207206..74209084-chr6:74351350..74353881,2	K562	blood:
2	chr6:74344506..74346128-chr6:74349882..74352388,2	K562	blood:
3	chr6:74224069..74225864-chr6:74351456..74354072,2	K562	blood:
4	chr6:74349347..74351323-chr6:74352268..74354035,2	MCF-7	breast:
5	chr6:74320124..74323054-chr6:74351713..74353933,2	MCF-7	breast:
6	chr6:74349101..74350730-chr6:74352362..74353916,2	K562	blood:

Extended variants
information (count: 133 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:123)

rs_ID	r²[population]
rs12177538	0.90[AFR][1000 genomes]
rs16883979	0.89[AFR][1000 genomes]
rs1691341	0.91[TSI][hapmap]
rs1691345	0.80[ASN][1000 genomes]
rs1691348	0.80[ASN][1000 genomes]
rs1703459	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1703460	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1703461	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs1703464	0.85[AFR][1000 genomes]
rs1703465	0.88[AFR][1000 genomes]
rs1703466	0.87[AFR][1000 genomes]
rs1741886	0.96[YRI][hapmap];0.88[AFR][1000 genomes]
rs1741888	0.88[AFR][1000 genomes]
rs1741895	0.83[TSI][hapmap]
rs1741899	0.96[AFR][1000 genomes]
rs1808000	0.88[AFR][1000 genomes]
rs364734	0.83[TSI][hapmap]
rs3757108	0.83[TSI][hapmap]
rs3846751	0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs4032316	0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs4079357	0.91[TSI][hapmap]
rs473078	0.91[TSI][hapmap]
rs474661	0.82[ASW][hapmap];0.85[LWK][hapmap];0.84[MKK][hapmap];0.96[TSI][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes]
rs475461	0.80[ASN][1000 genomes]
rs476838	0.91[TSI][hapmap]
rs485349	0.88[AFR][1000 genomes]
rs487490	0.91[AFR][1000 genomes]
rs490454	0.96[AFR][1000 genomes]
rs493068	0.96[AFR][1000 genomes]
rs494841	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs498907	0.86[ASN][1000 genomes]
rs498990	0.87[ASN][1000 genomes]
rs5007648	0.96[AFR][1000 genomes]
rs5007649	0.87[AFR][1000 genomes]
rs5007650	0.87[AFR][1000 genomes]
rs5007651	0.84[AFR][1000 genomes]
rs5007652	0.86[AFR][1000 genomes]
rs504477	0.85[AFR][1000 genomes]
rs506157	0.96[YRI][hapmap];0.88[AFR][1000 genomes]
rs518566	0.91[AFR][1000 genomes]
rs520589	0.96[AFR][1000 genomes]
rs527606	0.88[ASW][hapmap];1.00[LWK][hapmap];0.99[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs534211	0.96[AFR][1000 genomes]
rs543642	0.91[TSI][hapmap]
rs549852	0.89[JPT][hapmap];0.80[ASN][1000 genomes]
rs555840	0.82[ASW][hapmap];0.85[LWK][hapmap];0.84[MKK][hapmap];0.96[TSI][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes]
rs555957	0.96[AFR][1000 genomes]
rs556147	0.82[AFR][1000 genomes]
rs558641	0.88[AFR][1000 genomes]
rs558839	0.96[AFR][1000 genomes]
rs562131	0.86[ASN][1000 genomes]
rs562557	0.96[AFR][1000 genomes]
rs564364	0.96[AFR][1000 genomes]
rs569263	0.80[AFR][1000 genomes]
rs570050	0.92[YRI][hapmap];0.88[AFR][1000 genomes]
rs57315094	0.96[AFR][1000 genomes]
rs580531	0.96[YRI][hapmap];0.88[AFR][1000 genomes]
rs583149	0.88[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs584078	1.00[YRI][hapmap]
rs58417654	0.96[AFR][1000 genomes]
rs584571	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs58783392	0.96[AFR][1000 genomes]
rs595884	0.87[AFR][1000 genomes]
rs596414	0.88[AFR][1000 genomes]
rs609439	0.88[AFR][1000 genomes]
rs609790	0.96[YRI][hapmap];0.88[AFR][1000 genomes]
rs609829	0.96[YRI][hapmap];0.88[AFR][1000 genomes]
rs610260	0.82[ASW][hapmap];0.85[LWK][hapmap];0.84[MKK][hapmap];0.96[TSI][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes]
rs611580	0.96[YRI][hapmap];0.88[AFR][1000 genomes]
rs615956	0.89[JPT][hapmap];0.80[ASN][1000 genomes]
rs622967	0.96[AFR][1000 genomes]
rs62438457	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs624632	0.83[AFR][1000 genomes]
rs625086	0.88[AFR][1000 genomes]
rs625512	0.96[YRI][hapmap];0.88[AFR][1000 genomes]
rs635752	0.80[AFR][1000 genomes]
rs636166	0.91[TSI][hapmap]
rs636605	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs6453684	0.88[AFR][1000 genomes]
rs656748	0.88[AFR][1000 genomes]
rs657212	0.82[ASW][hapmap];0.85[LWK][hapmap];0.84[MKK][hapmap];0.96[TSI][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes]
rs664953	0.81[ASN][1000 genomes]
rs673176	0.88[AFR][1000 genomes]
rs673511	0.88[AFR][1000 genomes]
rs674482	0.87[AFR][1000 genomes]
rs674938	0.88[AFR][1000 genomes]
rs674989	0.88[AFR][1000 genomes]
rs676704	0.96[AFR][1000 genomes]
rs676952	0.86[ASN][1000 genomes]
rs677073	0.95[AFR][1000 genomes]
rs678054	0.96[YRI][hapmap];0.96[AFR][1000 genomes]
rs680391	0.96[AFR][1000 genomes]
rs685491	0.92[YRI][hapmap];0.89[AFR][1000 genomes]
rs686317	0.92[YRI][hapmap];0.88[AFR][1000 genomes]
rs687210	0.82[ASW][hapmap];0.98[LWK][hapmap];0.97[MKK][hapmap];0.96[TSI][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes]
rs6930178	0.96[AFR][1000 genomes]
rs6940526	0.96[AFR][1000 genomes]
rs6940706	0.82[AFR][1000 genomes]
rs6940886	0.94[AFR][1000 genomes]
rs71542212	0.96[AFR][1000 genomes]
rs766708	0.84[AFR][1000 genomes]
rs7739206	0.96[AFR][1000 genomes]
rs7747069	0.96[AFR][1000 genomes]
rs7758825	0.85[AFR][1000 genomes]
rs7759157	0.96[AFR][1000 genomes]
rs7764560	0.89[YRI][hapmap];0.85[AFR][1000 genomes]
rs7764768	0.82[AFR][1000 genomes]
rs7764983	0.91[AFR][1000 genomes]
rs9293932	0.96[AFR][1000 genomes]
rs9293933	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs9446947	0.88[AFR][1000 genomes]
rs9446949	0.88[AFR][1000 genomes]
rs9446952	0.88[JPT][hapmap];0.96[AFR][1000 genomes]
rs9446953	0.96[AFR][1000 genomes]
rs9446954	0.95[AFR][1000 genomes]
rs9446955	0.88[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs9446957	0.92[YRI][hapmap];0.89[AFR][1000 genomes]
rs9446958	0.89[AFR][1000 genomes]
rs9446960	0.81[AFR][1000 genomes]
rs9446961	0.88[AFR][1000 genomes]
rs9446962	0.88[AFR][1000 genomes]
rs9446964	0.87[ASW][hapmap];1.00[LWK][hapmap];0.99[MKK][hapmap];0.96[TSI][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes]
rs9446966	0.96[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
3	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
4	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
5	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
6	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
7	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
8	nsv603694	chr6:74275405-74365807	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv1029927	chr6:74300496-74424355	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
10	nsv1027691	chr6:74302980-74417450	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs495385	EEF1A1	Cis_1M	lymphoblastoid	RTeQTL
rs495385	MTO1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74296400-74354800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr6:74296400-74354800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr6:74296400-74355000	Weak transcription	Fetal Brain Male	brain
4	chr6:74297000-74361800	Weak transcription	GM12878-XiMat	blood
5	chr6:74303400-74355000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr6:74307200-74362400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr6:74307600-74356400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:74311200-74355000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr6:74314200-74362800	Weak transcription	Stomach Mucosa	stomach
10	chr6:74315600-74362800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:74316600-74355000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr6:74318400-74355000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr6:74318800-74355200	Weak transcription	Colonic Mucosa	Colon
14	chr6:74319600-74354800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr6:74319800-74354800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr6:74324600-74362800	Weak transcription	Pancreas	Pancrea
17	chr6:74324800-74361600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr6:74325000-74354800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr6:74325000-74355200	Weak transcription	HSMM	muscle
20	chr6:74325200-74355000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr6:74325400-74362800	Weak transcription	Small Intestine	intestine
22	chr6:74334000-74353000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr6:74335200-74352400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:74335600-74352600	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr6:74336800-74352600	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr6:74337000-74352400	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr6:74337200-74352800	Strong transcription	Fetal Intestine Large	intestine
28	chr6:74337400-74352600	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr6:74339200-74362800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr6:74341000-74355000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr6:74341400-74355000	Weak transcription	Aorta	Aorta
32	chr6:74341400-74355000	Weak transcription	Ovary	ovary
33	chr6:74341400-74360400	Weak transcription	HepG2	liver
34	chr6:74341600-74362800	Weak transcription	Esophagus	oesophagus
35	chr6:74341600-74362800	Weak transcription	Gastric	stomach
36	chr6:74341800-74354600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr6:74341800-74354800	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr6:74341800-74355000	Weak transcription	Brain Angular Gyrus	brain
39	chr6:74341800-74362600	Weak transcription	Brain Substantia Nigra	brain
40	chr6:74342000-74362800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr6:74342400-74352600	Strong transcription	Liver	Liver
42	chr6:74342400-74362800	Weak transcription	Lung	lung
43	chr6:74342400-74362800	Weak transcription	Spleen	Spleen
44	chr6:74342600-74354800	Weak transcription	Stomach Smooth Muscle	stomach
45	chr6:74343200-74354800	Weak transcription	Brain Germinal Matrix	brain
46	chr6:74343200-74362600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr6:74343400-74354800	Weak transcription	Fetal Brain Female	brain
48	chr6:74343600-74355000	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr6:74343600-74355400	Weak transcription	Placenta	Placenta
50	chr6:74344200-74355000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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