Variant report

Variant	rs1753286
Chromosome Location	chr6:36970271-36970272
allele	C/G
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:36952379..36955102-chr6:36965979..36971792,7	MCF-7	breast:
2	chr6:36966223..36968273-chr6:36968808..36971122,3	K562	blood:
3	chr6:36967024..36973771-chr6:36979699..36986633,7	K562	blood:
4	chr6:36951360..36957548-chr6:36964706..36970928,10	K562	blood:
5	chr6:36954231..36957100-chr6:36969352..36972549,3	K562	blood:
6	chr6:36571817..36573634-chr6:36968977..36971484,2	K562	blood:
7	chr6:36952074..36956895-chr6:36967839..36978010,11	MCF-7	breast:
8	chr6:36962998..36965678-chr6:36969207..36971647,3	K562	blood:
9	chr6:36951556..36954050-chr6:36967032..36970466,4	K562	blood:
10	chr6:36959704..36962585-chr6:36968931..36971107,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000146192	Chromatin interaction
ENSG00000137409	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12524747	0.81[AMR][1000 genomes]
rs12524778	0.84[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.80[TSI][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1318960	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1318961	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13217627	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1570116	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.80[TSI][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16889364	0.88[CEU][hapmap];0.89[TSI][hapmap];0.86[EUR][1000 genomes]
rs1753284	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2293390	0.94[CHB][hapmap];0.83[CHD][hapmap]
rs2770123	1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35466616	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4714028	0.81[CEU][hapmap]
rs4714029	0.97[ASN][1000 genomes]
rs6915109	0.82[AMR][1000 genomes]
rs6915207	0.84[CEU][hapmap];0.82[AMR][1000 genomes]
rs708009	0.97[ASN][1000 genomes]
rs708011	0.96[ASN][1000 genomes]
rs708013	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7739340	0.87[MKK][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7739958	0.94[CHB][hapmap];0.88[CHD][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs7743783	0.84[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.80[TSI][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7762333	0.82[AMR][1000 genomes]
rs9368977	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9380631	0.97[ASN][1000 genomes]
rs9394393	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9470451	0.92[CEU][hapmap];0.84[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030015	chr6:36818510-37104446	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv916833	chr6:36826524-37029833	Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv885815	chr6:36915906-36979583	Active TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv5263	chr6:36941625-36972109	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
5	nsv518386	chr6:36942746-37037670	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv602952	chr6:36951210-36978745	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv885816	chr6:36965099-36999682	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1753286	FTSJD2	cis	brain	seeQTL
rs1753286	PI16	cis	parietal	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36966400-36973400	Weak transcription	Esophagus	oesophagus
2	chr6:36966600-36973800	Weak transcription	Right Atrium	heart
3	chr6:36966800-36973400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr6:36966800-36975000	Weak transcription	Psoas Muscle	Psoas
5	chr6:36967000-36973600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr6:36967400-36973400	Weak transcription	Left Ventricle	heart
7	chr6:36967600-36972000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:36967800-36973800	Weak transcription	Pancreas	Pancrea
9	chr6:36968800-36971800	Enhancers	Primary B cells from peripheral blood	blood
10	chr6:36968800-36972200	Enhancers	Primary B cells from cord blood	blood
11	chr6:36969800-36973000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr6:36970000-36972800	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr6:36970200-36972400	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr6:36970200-36973400	Weak transcription	Spleen	Spleen

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