Variant report

Variant	rs11779647
Chromosome Location	chr8:98987643-98987644
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:98880636..98882554-chr8:98986565..98988277,2	MCF-7	breast:
2	chr8:98985735..98990217-chr8:98991050..98995817,5	K562	blood:

Variant related genes	Relation type
ENSG00000132561	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11775531	0.88[MEX][hapmap]
rs2256367	0.81[MEX][hapmap]
rs2513837	0.81[MEX][hapmap]
rs2877453	0.83[MEX][hapmap]
rs62521959	0.83[EUR][1000 genomes]
rs7006113	0.94[MEX][hapmap]
rs9693435	0.91[CEU][hapmap];0.87[MEX][hapmap];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv891214	chr8:98849303-98990399	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv528695	chr8:98960813-99022009	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11779647	RGS22	cis	cerebellum	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:98968200-98993800	Weak transcription	Esophagus	oesophagus
2	chr8:98970000-98992200	Weak transcription	Brain Hippocampus Middle	brain
3	chr8:98974400-98991200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr8:98976200-98996200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr8:98980000-98991600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr8:98980200-98994800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:98981000-98991200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr8:98982800-98994000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr8:98983000-98990600	Weak transcription	Duodenum Mucosa	Duodenum
10	chr8:98983000-98994000	Weak transcription	Left Ventricle	heart
11	chr8:98983800-98990800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr8:98985600-98991000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:98985600-98991000	Weak transcription	NHDF-Ad	bronchial
14	chr8:98985600-98991200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:98985600-98991200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr8:98985600-98992000	Weak transcription	Fetal Stomach	stomach
17	chr8:98985600-98992200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr8:98985600-98993600	Weak transcription	Brain Angular Gyrus	brain
19	chr8:98985600-98993600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr8:98985600-98993800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr8:98985600-98995800	Weak transcription	A549	lung
22	chr8:98986000-98989800	Weak transcription	Ovary	ovary
23	chr8:98986000-98991400	Weak transcription	Adipose Nuclei	Adipose
24	chr8:98986000-98993800	Weak transcription	Brain Substantia Nigra	brain
25	chr8:98986000-98997400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr8:98986200-98991000	Weak transcription	Osteobl	bone
27	chr8:98987000-98988600	Strong transcription	Fetal Muscle Leg	muscle
28	chr8:98987000-98992800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr8:98987400-98998400	Weak transcription	Pancreas	Pancrea

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