Variant report

Variant	rs1784408
Chromosome Location	chr11:102469509-102469510
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:102460887..102463879-chr11:102468746..102470729,3	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1631411	0.82[YRI][hapmap]
rs1711437	0.89[LWK][hapmap];0.87[MKK][hapmap];0.81[TSI][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes]
rs1711439	0.89[LWK][hapmap];0.88[MKK][hapmap];0.81[TSI][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes]
rs1784420	0.84[AFR][1000 genomes]
rs1784448	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1962082	0.81[MKK][hapmap]
rs751547	0.86[LWK][hapmap];0.88[MKK][hapmap];0.81[TSI][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes]

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	esv1815657	chr11:102413582-102490794	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv832252	chr11:102445479-102627879	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1784408	BIRC2	cis	cerebellum	SCAN
rs1784408	CARD16	cis	parietal	SCAN

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102462200-102470000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr11:102464000-102470800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:102466000-102470600	Weak transcription	Small Intestine	intestine
4	chr11:102466800-102474200	Enhancers	HepG2	liver
5	chr11:102467200-102470000	Enhancers	A549	lung
6	chr11:102467600-102470800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:102468000-102470200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:102468800-102470200	Enhancers	HUVEC	blood vessel
9	chr11:102469000-102470600	Enhancers	Hela-S3	cervix
10	chr11:102469000-102470600	Enhancers	HMEC	breast
11	chr11:102469000-102470600	Enhancers	NH-A	brain
12	chr11:102469000-102471600	Enhancers	Fetal Intestine Large	intestine
13	chr11:102469200-102469600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr11:102469200-102470600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr11:102469200-102470600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr11:102469200-102470600	Enhancers	NHEK	skin
17	chr11:102469200-102470600	Enhancers	NHLF	lung
18	chr11:102469200-102470600	Enhancers	Osteobl	bone
19	chr11:102469200-102471600	Enhancers	NHDF-Ad	bronchial
20	chr11:102469200-102471800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr11:102469200-102471800	Enhancers	Stomach Mucosa	stomach
22	chr11:102469200-102475800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:102469200-102476200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr11:102469400-102469600	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr11:102469400-102469600	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr11:102469400-102469800	Enhancers	Pancreas	Pancrea
27	chr11:102469400-102470200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr11:102469400-102470600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr11:102469400-102470600	Enhancers	HSMM	muscle
30	chr11:102469400-102471400	Enhancers	Fetal Intestine Small	intestine
31	chr11:102469400-102471600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:102469400-102471600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr11:102469400-102471800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr11:102469400-102473400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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