Variant report

Variant	rs11766819
Chromosome Location	chr7:116475312-116475313
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	7:116472596-116476326..7:116544149-116547624	H1-hESC	embryonic stem cell:	embryo
2	chr7:116474252..116476864-chr7:116487884..116490792,2	MCF-7	breast:
3	7:115847372-115857098..7:116472596-116476326	H1-hESC	embryonic stem cell:	embryo
4	7:116472596-116476326..7:116728195-116740907	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
ENSG00000135269	Chromatin interaction
ENSG00000226367	Chromatin interaction
ENSG00000004866	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1049618	0.82[ASW][hapmap];0.87[MEX][hapmap]
rs12154364	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs183642	0.80[GIH][hapmap];0.81[LWK][hapmap]
rs193688	0.80[GIH][hapmap]
rs41735	0.81[LWK][hapmap]
rs41743	0.81[JPT][hapmap]
rs41751	0.91[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap];0.81[TSI][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41752	0.91[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap];0.81[TSI][hapmap];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs41753	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41756	0.90[CHB][hapmap];0.91[CHD][hapmap];0.91[JPT][hapmap];0.81[TSI][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41757	0.91[CHB][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41759	0.91[CHB][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41760	0.91[CHB][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41761	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41763	0.91[CHB][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41764	0.91[CHB][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41765	0.91[CHB][hapmap];0.91[CHD][hapmap];0.91[JPT][hapmap];0.83[TSI][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41766	0.93[ASN][1000 genomes]
rs41767	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41768	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41769	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41772	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41774	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41775	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41777	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs41780	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs41785	0.87[EUR][1000 genomes]
rs41790	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41794	0.86[EUR][1000 genomes]
rs42337	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs42383	0.91[CHB][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4730762	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56355906	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs964449	0.82[ASW][hapmap];0.81[CHD][hapmap];0.83[MEX][hapmap]

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	nsv831107	chr7:116414734-116649466	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11766819	CASP4	trans	parietal	SCAN
rs11766819	CAV2	cis	lymphoblastoid	seeQTL

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116472000-116483400	Weak transcription	Right Atrium	heart
2	chr7:116474600-116475400	Enhancers	Liver	Liver
3	chr7:116474600-116475600	Enhancers	HepG2	liver
4	chr7:116474600-116475800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:116474600-116476000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr7:116474600-116476000	Enhancers	Duodenum Mucosa	Duodenum
7	chr7:116474600-116477400	Enhancers	Fetal Intestine Large	intestine
8	chr7:116474800-116475400	Flanking Active TSS	Hela-S3	cervix
9	chr7:116474800-116475600	Enhancers	A549	lung
10	chr7:116474800-116475800	Enhancers	NHEK	skin
11	chr7:116474800-116476600	Enhancers	Fetal Heart	heart
12	chr7:116474800-116476600	Enhancers	Left Ventricle	heart
13	chr7:116474800-116476600	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr7:116474800-116476800	Enhancers	Fetal Intestine Small	intestine
15	chr7:116474800-116477800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:116475000-116475400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:116475000-116475400	Enhancers	NHDF-Ad	bronchial
18	chr7:116475000-116475800	Enhancers	Right Ventricle	heart
19	chr7:116475000-116476000	Weak transcription	Stomach Mucosa	stomach
20	chr7:116475000-116477600	Enhancers	HMEC	breast
21	chr7:116475200-116477800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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