Variant report

Variant	rs311683
Chromosome Location	chr6:74126941-74126942
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	6:74099986-74112890..6:74126855-74128780	GM12878	blood:
2	chr6:74117628..74120128-chr6:74125785..74127778,2	K562	blood:
3	6:74078047-74099067..6:74126855-74128780	GM12878	blood:
4	chr6:74122459..74125272-chr6:74125435..74127314,2	K562	blood:

Variant related genes	Relation type
ENSG00000080007	Chromatin interaction
ENSG00000203907	Chromatin interaction
ENSG00000238464	Chromatin interaction
ENSG00000231332	Chromatin interaction
ENSG00000235174	Chromatin interaction
ENSG00000224221	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs311681	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs311682	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs311684	1.00[CEU][hapmap];0.98[GIH][hapmap];0.95[TSI][hapmap];0.98[EUR][1000 genomes]
rs311685	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs311686	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs473675	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs474418	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs496530	0.88[CEU][hapmap];0.93[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs504218	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs508770	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs515650	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs516395	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs526434	0.87[MEX][hapmap]
rs532631	0.83[MEX][hapmap]
rs553123	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs558198	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs561930	0.88[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6928023	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6937939	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs780288	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs311683	EEF1A1	cis	parietal	SCAN
rs311683	MTO1	cis	cerebellum	SCAN

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74115000-74131000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr6:74115800-74131200	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr6:74117800-74131800	Weak transcription	Primary B cells from cord blood	blood
4	chr6:74119200-74149000	Weak transcription	Fetal Intestine Large	intestine
5	chr6:74120600-74131200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr6:74121800-74127800	Weak transcription	K562	blood
7	chr6:74122200-74131200	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr6:74122400-74131200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr6:74122800-74131400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr6:74123000-74130200	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr6:74123200-74160200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr6:74124000-74128200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr6:74124000-74130000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr6:74124000-74131400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:74124400-74131400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:74124400-74139800	Weak transcription	NHDF-Ad	bronchial
17	chr6:74124600-74127000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr6:74124600-74131200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr6:74124600-74131400	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr6:74124600-74131400	Weak transcription	Adipose Nuclei	Adipose
21	chr6:74124800-74129800	Weak transcription	GM12878-XiMat	blood
22	chr6:74124800-74130000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr6:74124800-74131200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr6:74124800-74131400	Weak transcription	A549	lung
25	chr6:74125200-74131400	Weak transcription	Left Ventricle	heart
26	chr6:74125200-74131600	Weak transcription	Aorta	Aorta
27	chr6:74125400-74160800	Weak transcription	Gastric	stomach
28	chr6:74125600-74129000	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr6:74125600-74131800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr6:74125800-74127600	Weak transcription	Primary B cells from peripheral blood	blood
31	chr6:74125800-74131200	Weak transcription	Fetal Intestine Small	intestine
32	chr6:74126000-74127400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr6:74126200-74131400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr6:74126400-74137200	Weak transcription	Placenta	Placenta
35	chr6:74126600-74154200	Weak transcription	Thymus	Thymus
36	chr6:74126800-74128800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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