Variant report

Variant	rs11968833
Chromosome Location	chr6:132654831-132654832
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:132653758..132656591-chr6:132657655..132660147,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10484483	0.93[CHB][hapmap];0.97[CHD][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs10499185	0.87[CHB][hapmap]
rs13190939	0.86[CHB][hapmap]
rs13196312	0.87[CHB][hapmap];0.88[GIH][hapmap];0.84[TSI][hapmap]
rs1474617	0.85[EUR][1000 genomes]
rs17061202	0.87[CHB][hapmap];0.88[GIH][hapmap];0.85[TSI][hapmap]
rs17637818	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17792959	0.87[CHB][hapmap]
rs35589902	0.81[AFR][1000 genomes]
rs55777437	0.84[ASN][1000 genomes]
rs59626829	0.89[ASN][1000 genomes]
rs67198650	0.90[ASN][1000 genomes]
rs6909136	0.93[CEU][hapmap];0.84[GIH][hapmap];0.94[TSI][hapmap];0.89[EUR][1000 genomes]
rs6925859	0.93[CEU][hapmap];0.85[EUR][1000 genomes]
rs72994804	0.90[ASN][1000 genomes]
rs73546022	0.85[EUR][1000 genomes]
rs7740843	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs7761051	0.87[CHB][hapmap];0.87[GIH][hapmap];0.85[TSI][hapmap]
rs9321337	0.87[EUR][1000 genomes]
rs9375877	0.83[GIH][hapmap]
rs9493294	0.82[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886674	chr6:132613798-132694751	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv830811	chr6:132623160-132787539	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11968833	POU4F1	trans	cerebellum	SCAN
rs11968833	CTGF	cis	parietal	SCAN

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132635600-132655000	Weak transcription	NH-A	brain
2	chr6:132640400-132662200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:132644000-132657400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr6:132644400-132675400	Weak transcription	Fetal Lung	lung
5	chr6:132645000-132655000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:132651000-132655000	Weak transcription	Fetal Intestine Small	intestine
7	chr6:132652000-132665600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr6:132652800-132657600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr6:132653200-132655000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr6:132653400-132655400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:132654600-132655000	Enhancers	Liver	Liver
12	chr6:132654600-132655200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:132654600-132655600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr6:132654600-132655800	Enhancers	Hela-S3	cervix
15	chr6:132654600-132655800	Flanking Active TSS	HepG2	liver
16	chr6:132654600-132656000	Flanking Active TSS	A549	lung
17	chr6:132654600-132656200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:132654600-132656800	Enhancers	Placenta Amnion	Placenta Amnion
19	chr6:132654600-132658400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr6:132654800-132655000	Enhancers	Fetal Kidney	kidney
21	chr6:132654800-132655000	Active TSS	HSMMtube	muscle
22	chr6:132654800-132655400	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr6:132654800-132655600	Enhancers	Osteobl	bone
24	chr6:132654800-132655800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr6:132654800-132656000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr6:132654800-132656000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr6:132654800-132656000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr6:132654800-132656000	Enhancers	Placenta	Placenta
29	chr6:132654800-132656000	Enhancers	NHLF	lung
30	chr6:132654800-132656200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr6:132654800-132656200	Enhancers	HMEC	breast
32	chr6:132654800-132656200	Enhancers	NHEK	skin
33	chr6:132654800-132656400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr6:132654800-132656800	Enhancers	NHDF-Ad	bronchial
35	chr6:132654800-132657800	Strong transcription	Cortex derived primary cultured neurospheres	brain

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