Variant report

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:150400674..150403275-chr6:150407304..150409849,2	K562	blood:
2	chr6:150401711..150402469-chr6:150716292..150716821,2	K562	blood:
3	chr6:150401548..150402447-chr6:150655810..150657501,10	K562	blood:
4	chr6:150401452..150402235-chr6:150654477..150655029,2	MCF-7	breast:
5	chr6:150401151..150402465-chr6:150656027..150656922,6	MCF-7	breast:
6	chr6:150401196..150403539-chr6:150662242..150665059,2	K562	blood:
7	chr6:150399642..150402199-chr6:150464178..150465810,2	MCF-7	breast:
8	chr6:150401003..150402693-chr6:150655609..150656984,12	MCF-7	breast:
9	chr6:150400447..150403376-chr6:150651283..150654200,2	K562	blood:
10	chr6:150401082..150403253-chr6:150656281..150658165,2	MCF-7	breast:
11	chr6:150401453..150402381-chr6:150464218..150464794,3	MCF-7	breast:
12	chr6:150388542..150390431-chr6:150401978..150404443,2	MCF-7	breast:
13	chr6:150401704..150402247-chr6:150654478..150655258,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000198729	Chromatin interaction
ENSG00000131019	Chromatin interaction

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs13199618	0.82[ASN][1000 genomes]
rs13201209	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1537649	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2009345	0.81[JPT][hapmap]
rs2010259	0.95[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.90[ASN][1000 genomes]
rs2184452	0.82[ASN][1000 genomes]
rs35742354	0.81[EUR][1000 genomes]
rs472469	0.82[ASN][1000 genomes]
rs4869816	0.81[JPT][hapmap]
rs550193	0.80[JPT][hapmap]
rs612770	0.90[ASN][1000 genomes]
rs682942	0.81[EUR][1000 genomes]
rs7767719	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs912557	0.82[ASN][1000 genomes]
rs912558	0.95[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs9322242	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9322243	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs932744	0.81[JPT][hapmap]
rs9371701	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9383663	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9397137	0.95[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs9397624	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9479622	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][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	nsv517022	chr6:150145001-150426272	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1026236	chr6:150360882-150408946	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv886770	chr6:150395424-150499889	Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs470138	LRP11	cis	cerebellum	SCAN
rs470138	LRP11	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150391200-150410000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:150400000-150402200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr6:150400600-150402200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr6:150400800-150402200	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr6:150400800-150408400	Weak transcription	NHEK	skin
6	chr6:150401000-150408200	Weak transcription	HMEC	breast
7	chr6:150401000-150408400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:150401000-150408400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr6:150401800-150402200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
10	chr6:150401800-150402200	Enhancers	Stomach Mucosa	stomach
11	chr6:150402000-150402200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
12	chr6:150402000-150402200	Flanking Active TSS	Brain Anterior Caudate	brain
13	chr6:150402000-150402200	Enhancers	Esophagus	oesophagus
14	chr6:150402000-150402200	Enhancers	Placenta Amnion	Placenta Amnion
15	chr6:150402000-150402200	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr6:150402000-150402200	Enhancers	Skeletal Muscle Female	skeletal muscle

Quick Search: