Variant report

Variant	rs488115
Chromosome Location	chr11:74731890-74731891
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:74725568..74728361-chr11:74730920..74733863,2	MCF-7	breast:
2	chr11:74731114..74733845-chr11:74735387..74737744,2	K562	blood:
3	chr11:74659749..74661462-chr11:74730590..74733403,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166435	Chromatin interaction
ENSG00000118363	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs4245439	0.86[CHD][hapmap];0.82[MEX][hapmap]
rs594144	0.80[AMR][1000 genomes]
rs997465	0.85[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	nsv832210	chr11:74562782-74732133	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs488115	RNF169	cis	lymphoblastoid	seeQTL
rs488115	RNF169	cis	cerebellum	SCAN
rs488115	KRTAP5-10	cis	parietal	SCAN
rs488115	XRRA1	Cis_1M	lymphoblastoid	RTeQTL
rs488115	XRRA1	cis	lymphoblastoid	seeQTL
rs488115	XRRA1	cis	parietal	SCAN
rs488115	XRRA1	cis	cerebellum	SCAN
rs488115	PLEKHB1	cis	cerebellum	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74718000-74733800	Weak transcription	Brain Substantia Nigra	brain
2	chr11:74718000-74734200	Weak transcription	Right Ventricle	heart
3	chr11:74721600-74733400	Weak transcription	Pancreas	Pancrea
4	chr11:74721600-74734200	Weak transcription	Brain Angular Gyrus	brain
5	chr11:74721600-74734200	Weak transcription	Brain Anterior Caudate	brain
6	chr11:74721600-74734200	Weak transcription	Brain Hippocampus Middle	brain
7	chr11:74721600-74734200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr11:74721600-74734200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr11:74723800-74733800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr11:74724000-74734200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr11:74724600-74735400	Weak transcription	Aorta	Aorta
12	chr11:74725600-74737000	Weak transcription	Thymus	Thymus
13	chr11:74726000-74732000	Weak transcription	Fetal Heart	heart
14	chr11:74726600-74746400	Weak transcription	GM12878-XiMat	blood
15	chr11:74729400-74732600	ZNF genes & repeats	Fetal Intestine Small	intestine
16	chr11:74730600-74734200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr11:74731000-74733400	Weak transcription	Fetal Intestine Large	intestine
18	chr11:74731600-74732800	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr11:74731800-74732000	Enhancers	Right Atrium	heart
20	chr11:74731800-74732200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:74731800-74732400	Enhancers	Fetal Muscle Trunk	muscle
22	chr11:74731800-74732400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr11:74731800-74732600	Enhancers	Left Ventricle	heart
24	chr11:74731800-74732800	Enhancers	Psoas Muscle	Psoas

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