Variant report

Variant	rs1149580
Chromosome Location	chr11:76549513-76549514
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:76546670..76552147-chr11:76556220..76560576,6	K562	blood:
2	chr11:76547374..76550137-chr11:76551533..76553464,2	K562	blood:
3	chr11:76494016..76496721-chr11:76548285..76549802,2	MCF-7	breast:
4	chr11:76548072..76552147-chr11:76556220..76559677,3	K562	blood:
5	chr11:76432516..76433468-chr11:76549439..76550375,4	K562	blood:
6	chr11:76444677..76445883-chr11:76549434..76550433,4	K562	blood:
7	chr11:76481325..76485010-chr11:76548090..76550777,4	MCF-7	breast:
8	chr11:76521066..76521915-chr11:76549449..76550037,3	K562	blood:
9	chr11:76517896..76518709-chr11:76549236..76550386,4	K562	blood:
10	chr11:76444600..76445268-chr11:76549508..76550407,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000182704	Chromatin interaction
ENSG00000255100	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs10899290	0.97[ASN][1000 genomes]
rs10899291	0.97[ASN][1000 genomes]
rs1149576	0.84[ASN][1000 genomes]
rs1149578	1.00[CHB][hapmap];0.99[ASN][1000 genomes]
rs1149579	1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1224950	0.90[ASN][1000 genomes]
rs1225130	1.00[ASN][1000 genomes]
rs1225138	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[ASN][1000 genomes]
rs1225145	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1225146	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1225148	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12270437	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12785471	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12793753	0.97[ASN][1000 genomes]
rs2372385	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4944123	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72941813	0.97[ASN][1000 genomes]
rs7930010	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7931306	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7938899	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs894066	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1149580	CAPN5	cis	parietal	SCAN
rs1149580	RPS3	cis	cerebellum	SCAN
rs1149580	ALG8	cis	parietal	SCAN
rs1149580	GDPD5	cis	parietal	SCAN

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76545000-76551200	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr11:76546000-76550600	Enhancers	Adipose Nuclei	Adipose
3	chr11:76546400-76551200	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr11:76546800-76551600	Enhancers	K562	blood
5	chr11:76547000-76549600	Enhancers	Hela-S3	cervix
6	chr11:76547000-76549600	Enhancers	HMEC	breast
7	chr11:76547000-76550000	Enhancers	Gastric	stomach
8	chr11:76547000-76550000	Enhancers	Pancreas	Pancrea
9	chr11:76547000-76550600	Enhancers	Lung	lung
10	chr11:76547000-76550800	Enhancers	Placenta	Placenta
11	chr11:76547000-76551200	Enhancers	Duodenum Mucosa	Duodenum
12	chr11:76547000-76551200	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr11:76547200-76549600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr11:76547200-76549600	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr11:76547200-76550000	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr11:76547200-76550400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr11:76547200-76550400	Enhancers	Fetal Muscle Leg	muscle
18	chr11:76547200-76550600	Enhancers	Colonic Mucosa	Colon
19	chr11:76547200-76550600	Enhancers	Esophagus	oesophagus
20	chr11:76547400-76549600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr11:76547400-76551200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr11:76547600-76549800	Enhancers	Brain Substantia Nigra	brain
23	chr11:76547600-76550600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr11:76547800-76550000	Enhancers	Left Ventricle	heart
25	chr11:76547800-76550200	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr11:76547800-76550200	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr11:76547800-76550400	Enhancers	Brain Hippocampus Middle	brain
28	chr11:76548000-76550200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr11:76548000-76550200	Weak transcription	NHEK	skin
30	chr11:76548000-76550800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr11:76548000-76551400	Enhancers	Stomach Mucosa	stomach
32	chr11:76548200-76550000	Enhancers	Brain Cingulate Gyrus	brain
33	chr11:76548200-76552800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:76548400-76549600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr11:76548400-76549800	Enhancers	Brain Angular Gyrus	brain
36	chr11:76548400-76550200	Weak transcription	A549	lung
37	chr11:76548400-76550800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:76548600-76550000	Enhancers	Brain Anterior Caudate	brain
39	chr11:76548600-76552000	Enhancers	HUVEC	blood vessel
40	chr11:76548800-76549600	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr11:76548800-76549600	Enhancers	Right Atrium	heart
42	chr11:76548800-76549800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr11:76548800-76550000	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr11:76548800-76550600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr11:76548800-76551000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr11:76549000-76549600	Enhancers	Fetal Brain Male	brain
47	chr11:76549000-76550000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr11:76549000-76550200	Enhancers	Small Intestine	intestine
49	chr11:76549000-76550600	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr11:76549000-76550600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland

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