Variant report

Variant	rs516395
Chromosome Location	chr6:74099464-74099465
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:74094308..74097512-chr6:74097531..74100716,3	K562	blood:
2	chr6:74089866..74093831-chr6:74097409..74099741,3	K562	blood:
3	chr6:74096906..74100537-chr6:74170433..74175605,6	K562	blood:
4	chr6:74097324..74100434-chr6:74104936..74106644,3	MCF-7	breast:
5	chr6:74097547..74100838-chr6:74107731..74110706,3	K562	blood:
6	chr6:74098592..74101107-chr6:74230395..74231995,2	K562	blood:
7	chr6:74097031..74100005-chr6:74170446..74175605,4	K562	blood:
8	chr6:74099074..74102810-chr6:74103260..74106649,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000080007	Chromatin interaction
ENSG00000238464	Chromatin interaction
ENSG00000203907	Chromatin interaction
ENSG00000207023	Chromatin interaction
ENSG00000156508	Chromatin interaction
ENSG00000135297	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs311681	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs311682	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs311683	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs311684	0.91[EUR][1000 genomes]
rs311685	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs311686	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs473675	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs474418	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs496530	0.97[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs504218	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs508770	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs515650	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs553123	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs558198	0.87[EUR][1000 genomes]
rs561930	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6928023	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6937939	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs780288	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs516395	MTO1	Cis_1M	lymphoblastoid	RTeQTL
rs516395	EEF1A1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74098600-74099600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:74099200-74099600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:74099200-74099800	Enhancers	Primary B cells from peripheral blood	blood
4	chr6:74099200-74099800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:74099200-74099800	Enhancers	Fetal Thymus	thymus
6	chr6:74099200-74100000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr6:74099200-74100400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr6:74099200-74100400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr6:74099200-74104400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr6:74099200-74104400	Weak transcription	Fetal Intestine Small	intestine
11	chr6:74099200-74104400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr6:74099200-74104400	Weak transcription	Thymus	Thymus
13	chr6:74099200-74110200	Weak transcription	Right Atrium	heart
14	chr6:74099400-74099600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr6:74099400-74099800	Enhancers	H1 Cell Line	embryonic stem cell
16	chr6:74099400-74099800	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr6:74099400-74099800	Enhancers	GM12878-XiMat	blood
18	chr6:74099400-74100000	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr6:74099400-74100000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr6:74099400-74100000	Enhancers	Primary T cells fromperipheralblood	blood
21	chr6:74099400-74100000	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr6:74099400-74100200	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr6:74099400-74100200	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr6:74099400-74100200	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr6:74099400-74100400	Enhancers	K562	blood
26	chr6:74099400-74101200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr6:74099400-74101200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr6:74099400-74102000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr6:74099400-74103400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr6:74099400-74104600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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