Variant report

Variant	rs7202363
Chromosome Location	chr16:70836370-70836371
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:3)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70780127..70782927-chr16:70835296..70837245,2	K562	blood:
2	chr16:70835151..70836653-chr16:70837410..70838920,2	K562	blood:
3	chr16:70820021..70824247-chr16:70832528..70836441,6	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IL34-3	chr16:70835990-70838077	ENSG00000251103
2	lnc-VAC14-1	chr16:70835986-70836743	ENSG00000262890.1
3	lnc-VAC14-1	chr16:70835990-70838077	NONHSAT143450

No data

Variant related genes	Relation type
ENSG00000260156	Chromatin interaction
ENSG00000103043	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1009285	0.85[ASN][1000 genomes]
rs11863319	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11864614	0.83[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.94[ASN][1000 genomes]
rs11866379	0.92[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12920588	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12924064	0.94[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12926985	0.98[ASN][1000 genomes]
rs12928270	0.96[ASN][1000 genomes]
rs12929374	0.94[ASN][1000 genomes]
rs12934723	0.98[ASN][1000 genomes]
rs12935645	0.98[ASN][1000 genomes]
rs13335758	0.96[ASN][1000 genomes]
rs1551528	0.83[CHB][hapmap];0.94[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1551529	0.83[CHB][hapmap];0.94[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs16970484	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs16970513	0.92[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.86[ASN][1000 genomes]
rs17248914	0.83[CHB][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap]
rs28676580	0.86[ASN][1000 genomes]
rs34268521	0.89[ASN][1000 genomes]
rs35144432	0.93[ASN][1000 genomes]
rs35426120	0.96[ASN][1000 genomes]
rs35665975	0.85[ASN][1000 genomes]
rs3743988	0.86[CEU][hapmap]
rs3760118	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs3855651	0.89[ASN][1000 genomes]
rs4985364	0.86[CEU][hapmap];0.92[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4985423	0.86[CEU][hapmap]
rs4985425	0.86[ASN][1000 genomes]
rs52826576	0.85[ASN][1000 genomes]
rs60190856	0.93[ASN][1000 genomes]
rs6499336	1.00[JPT][hapmap]
rs713511	0.96[ASN][1000 genomes]
rs71384769	0.96[ASN][1000 genomes]
rs71401831	0.89[ASN][1000 genomes]
rs7185921	0.92[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.86[ASN][1000 genomes]
rs7188712	0.85[CEU][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7194091	0.86[CHD][hapmap];0.88[JPT][hapmap]
rs7203578	0.86[CEU][hapmap]
rs8044133	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8052615	0.87[CEU][hapmap];0.92[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.85[TSI][hapmap];0.96[ASN][1000 genomes]
rs8060947	0.86[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9931380	0.93[ASW][hapmap];0.87[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.92[MEX][hapmap];0.85[TSI][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][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	nsv517391	chr16:70666410-70840490	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv457517	chr16:70666722-70840490	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv572945	chr16:70666722-70840490	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1061191	chr16:70754975-71201367	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
5	nsv1059478	chr16:70773597-71237055	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
6	esv2758429	chr16:70807122-71316983	Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
7	esv2758653	chr16:70807122-71316983	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
8	nsv916160	chr16:70809280-71120138	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
9	esv2757641	chr16:70833949-71200049	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7202363	FUK	cis	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70835400-70837600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr16:70835400-70837600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr16:70835400-70838000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr16:70835400-70838000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr16:70835400-70838600	Weak transcription	HUVEC	blood vessel
6	chr16:70835600-70836800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr16:70835600-70837600	Weak transcription	HMEC	breast
8	chr16:70835600-70837800	Weak transcription	NHLF	lung
9	chr16:70835600-70838000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr16:70835600-70842800	Weak transcription	Brain Anterior Caudate	brain
11	chr16:70835800-70837000	Weak transcription	Osteobl	bone
12	chr16:70835800-70837600	Weak transcription	Placenta	Placenta
13	chr16:70835800-70837600	Weak transcription	Hela-S3	cervix
14	chr16:70835800-70837600	Weak transcription	HSMMtube	muscle
15	chr16:70835800-70839200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr16:70836000-70838000	Weak transcription	NH-A	brain

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