Variant report

Variant	rs200853
Chromosome Location	chr6:5082246-5082247
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr6:5082187-5082409	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr6:5082182-5083187	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr6:5082078-5083881	HepG2	liver:	n/a	n/a
4	CTCF	chr6:5082220-5082370	GM12867	blood:	n/a	n/a
5	HEY1	chr6:5081823-5084134	HepG2	liver:	n/a	n/a
6	POLR2A	chr6:5081927-5084347	HepG2	liver:	n/a	n/a
7	FOS	chr6:5082183-5082506	MCF10A-Er-Src	breast:	n/a	n/a
8	ZBTB7A	chr6:5081957-5082328	HepG2	liver:	n/a	n/a
9	SMARCC1	chr6:5082119-5083365	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr6:5082074-5083393	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:5080171..5082939-chr6:5089292..5092079,2	MCF-7	breast:
2	chr6:5072255..5076149-chr6:5080723..5083422,4	K562	blood:
3	chr6:5079080..5082683-chr6:5086665..5090602,4	K562	blood:
4	chr17:79479335..79479899-chr6:5082111..5082684,2	Hela-S3	cervix:
5	chr6:5081137..5084088-chr6:5116635..5118182,2	MCF-7	breast:
6	chr6:5082094..5085573-chr6:5086074..5088451,3	K562	blood:

No data

Variant related genes	Relation type
PPP1R3G	TF binding region
ENSG00000184009	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1265351	0.91[CHD][hapmap];0.90[MEX][hapmap]
rs13340416	0.89[ASN][1000 genomes]
rs200852	1.00[CHD][hapmap];0.95[MEX][hapmap];0.92[MKK][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs200854	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.96[TSI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs200855	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs200856	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs374283	0.89[ASN][1000 genomes]
rs376210	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs378259	0.89[ASN][1000 genomes]
rs397654	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs398302	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs421273	0.89[ASN][1000 genomes]
rs436556	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9378928	0.91[CHD][hapmap]
rs9378930	0.89[ASN][1000 genomes]
rs9378931	0.89[ASN][1000 genomes]
rs9392070	0.82[CHD][hapmap]
rs9392650	0.89[CHB][hapmap];1.00[CHD][hapmap];0.89[ASN][1000 genomes]
rs9392653	0.91[CHD][hapmap]
rs9405254	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023527	chr6:4729592-5387176	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv462622	chr6:4904380-5172009	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv600871	chr6:4904380-5172009	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv600872	chr6:4975313-5342190	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1031837	chr6:4996667-5418726	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Strong transcription 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	23 gene(s)	inside rSNPs	diseases
6	nsv1017380	chr6:5007870-5152551	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
7	nsv1017373	chr6:5066785-5128943	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv538112	chr6:5066785-5128943	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1034681	chr6:5070351-5387176	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
10	nsv538113	chr6:5070351-5387176	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
11	nsv1018152	chr6:5077025-5387176	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs200853	LYRM4	cis	parietal	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5071800-5082400	Weak transcription	Fetal Intestine Small	intestine
2	chr6:5075400-5082600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr6:5077600-5082800	Weak transcription	Spleen	Spleen
4	chr6:5080000-5084800	Enhancers	NHDF-Ad	bronchial
5	chr6:5080400-5085400	Flanking Active TSS	HepG2	liver
6	chr6:5080600-5082600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:5080600-5083400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:5080600-5083800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr6:5080800-5083400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr6:5081000-5084400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr6:5081600-5082400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr6:5081600-5082600	Enhancers	NH-A	brain
13	chr6:5081600-5084000	Enhancers	NHEK	skin
14	chr6:5081800-5082400	Enhancers	Hela-S3	cervix
15	chr6:5081800-5084200	Weak transcription	Right Ventricle	heart
16	chr6:5081800-5084200	Enhancers	NHLF	lung
17	chr6:5082000-5082600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr6:5082000-5082800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr6:5082000-5083400	Enhancers	Muscle Satellite Cultured Cells	--
20	chr6:5082000-5083400	Enhancers	Osteobl	bone
21	chr6:5082000-5084000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:5082000-5084400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr6:5082000-5084400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:5082000-5084400	Enhancers	A549	lung
25	chr6:5082000-5084800	Enhancers	HMEC	breast
26	chr6:5082200-5084400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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