Variant report

No.	Distal block	Cell Line	Cell type
1	chr6:36163719..36166394-chr6:36216148..36218195,2	K562	blood:
2	chr6:36090994..36093354-chr6:36216938..36218500,2	MCF-7	breast:
3	chr6:36088861..36090519-chr6:36216465..36219444,2	MCF-7	breast:
4	chr6:36215705..36217439-chr6:36274116..36276265,2	MCF-7	breast:
5	chr6:36200507..36203942-chr6:36214708..36217317,3	K562	blood:
6	chr6:36213671..36216100-chr6:36216931..36218929,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000096070	Chromatin interaction
ENSG00000246982	Chromatin interaction

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs2239798	0.87[CEU][hapmap];0.87[TSI][hapmap];0.88[EUR][1000 genomes]
rs4236049	1.00[CEU][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4395718	1.00[CEU][hapmap];0.91[GIH][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4713941	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59200830	0.88[EUR][1000 genomes]
rs9462165	0.93[CEU][hapmap];0.84[MEX][hapmap];0.92[TSI][hapmap];0.92[EUR][1000 genomes]
rs9470226	0.80[CEU][hapmap]
rs9470229	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs9470230	0.87[CEU][hapmap];0.87[TSI][hapmap];0.87[EUR][1000 genomes]
rs9470233	0.87[CEU][hapmap];0.84[MEX][hapmap];0.87[TSI][hapmap];0.86[EUR][1000 genomes]
rs9470234	0.87[CEU][hapmap];0.84[EUR][1000 genomes]
rs9470235	0.87[CEU][hapmap];0.89[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3363467	chr6:35820920-36222197	Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs4713940	ANKS1A	cis	cerebellum	SCAN
rs4713940	KCNK17	cis	cerebellum	SCAN
rs4713940	CLPS	cis	parietal	SCAN
rs4713940	MAPK13	cis	cerebellum	SCAN
rs4713940	MAPK14	cis	cerebellum	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36203800-36220200	Weak transcription	Right Atrium	heart
2	chr6:36209200-36218200	Enhancers	Fetal Intestine Small	intestine
3	chr6:36211200-36218200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr6:36212200-36218200	Enhancers	Fetal Intestine Large	intestine
5	chr6:36214600-36217600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr6:36214600-36217800	Enhancers	HUVEC	blood vessel
7	chr6:36215000-36218200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr6:36215200-36218000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr6:36215200-36218000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr6:36215200-36218200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr6:36215400-36217200	Enhancers	HMEC	breast
12	chr6:36215400-36217400	Enhancers	NHEK	skin
13	chr6:36215600-36220200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:36215800-36217200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr6:36215800-36217200	Enhancers	HepG2	liver
16	chr6:36215800-36217600	Enhancers	NHDF-Ad	bronchial
17	chr6:36216000-36220000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr6:36216200-36217600	Enhancers	NHLF	lung
19	chr6:36216800-36217200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr6:36216800-36217800	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr6:36217000-36217200	Enhancers	NH-A	brain
22	chr6:36217000-36218200	Enhancers	Monocytes-CD14+_RO01746	blood

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