Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr11:17458026-17458169	MCF10A-Er-Src	breast:	n/a	chr11:17458067-17458077 chr11:17458067-17458076 chr11:17458068-17458077
2	JUND	chr11:17458031-17458173	HepG2	liver:	n/a	chr11:17458067-17458077 chr11:17458067-17458076 chr11:17458068-17458077 chr11:17458066-17458077
3	FOS	chr11:17457907-17458226	MCF10A-Er-Src	breast:	n/a	chr11:17458067-17458077 chr11:17458067-17458076 chr11:17458068-17458077

Variant related genes	Relation type
SDHCP4	TF binding region

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs16934136	0.86[LWK][hapmap]
rs2074317	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2283257	0.82[ASW][hapmap];0.86[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.94[ASN][1000 genomes]
rs4148617	0.83[CEU][hapmap];0.90[JPT][hapmap]
rs4148618	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7110117	0.86[LWK][hapmap]
rs7119439	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72866890	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs873314	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][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	nsv469895	chr11:17368270-17584220	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7108578	ABCC8	cis	Muscle Skeletal	GTEx
rs7108578	DKFZp686O24166	cis	cerebellum	SCAN
rs7108578	SAA1	cis	cerebellum	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17435200-17460600	Weak transcription	Right Atrium	heart
2	chr11:17443800-17462600	Weak transcription	Brain Substantia Nigra	brain
3	chr11:17446400-17460600	Weak transcription	Fetal Intestine Small	intestine
4	chr11:17451800-17458800	Weak transcription	Fetal Thymus	thymus
5	chr11:17452800-17459000	Weak transcription	Lung	lung
6	chr11:17453000-17460200	Weak transcription	Gastric	stomach
7	chr11:17454000-17464000	Weak transcription	Brain Anterior Caudate	brain
8	chr11:17454200-17458800	Weak transcription	Dnd41	blood
9	chr11:17454200-17465800	Weak transcription	Brain Angular Gyrus	brain
10	chr11:17456000-17469200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr11:17456200-17460200	Weak transcription	Fetal Brain Female	brain
12	chr11:17456200-17461000	Weak transcription	Spleen	Spleen
13	chr11:17456600-17460400	Weak transcription	Fetal Lung	lung
14	chr11:17457000-17467200	Weak transcription	Fetal Brain Male	brain
15	chr11:17457200-17459200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr11:17457200-17465400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr11:17457400-17464600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:17457600-17458400	Enhancers	Hela-S3	cervix
19	chr11:17457800-17459000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr11:17457800-17460400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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