Variant report

Variant	rs1783585
Chromosome Location	chr11:72889018-72889019
allele	A/C
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:72888536..72892763-chr11:72896055..72898678,3	MCF-7	breast:
2	chr11:72436199..72436919-chr11:72888860..72889921,4	K562	blood:
3	chr11:72559800..72560329-chr11:72888830..72889720,2	MCF-7	breast:
4	chr11:72542645..72543678-chr11:72888974..72889768,3	MCF-7	breast:
5	chr11:72404618..72405128-chr11:72888455..72889321,2	MCF-7	breast:
6	chr11:72436037..72436995-chr11:72888881..72889742,2	MCF-7	breast:
7	chr11:72851233..72853353-chr11:72886371..72889138,2	MCF-7	breast:
8	chr11:72542141..72543239-chr11:72888709..72890185,13	MCF-7	breast:
9	chr11:72635311..72636425-chr11:72888571..72889736,11	MCF-7	breast:
10	chr11:72558950..72560859-chr11:72888092..72889897,2	MCF-7	breast:
11	chr11:72543826..72544567-chr11:72888841..72889715,2	K562	blood:
12	chr11:72541701..72543210-chr11:72888821..72890263,10	K562	blood:
13	chr11:72525648..72526515-chr11:72888816..72889343,2	MCF-7	breast:
14	chr11:72635338..72636290-chr11:72888988..72889906,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000137478	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12576740	0.84[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1791933	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57351800	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57854130	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58237213	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs60505578	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7108687	0.91[MEX][hapmap]
rs7930305	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053737	chr11:72838564-72956847	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv386	chr11:72849097-72893807	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv832208	chr11:72876184-73091003	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1783585	NCRNA00221	trans	lymphoblastoid	seeQTL

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72880400-72889800	Enhancers	Primary B cells from peripheral blood	blood
2	chr11:72880600-72889600	Enhancers	GM12878-XiMat	blood
3	chr11:72883600-72889200	Enhancers	Left Ventricle	heart
4	chr11:72883600-72889600	Enhancers	Right Atrium	heart
5	chr11:72883600-72890000	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr11:72883800-72889200	Enhancers	Fetal Muscle Leg	muscle
7	chr11:72883800-72889600	Enhancers	Ovary	ovary
8	chr11:72884200-72889400	Enhancers	Fetal Muscle Trunk	muscle
9	chr11:72884200-72889600	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr11:72884400-72889400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr11:72884600-72889600	Enhancers	Pancreas	Pancrea
12	chr11:72886000-72889200	Enhancers	HSMMtube	muscle
13	chr11:72886400-72889200	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr11:72886400-72889600	Enhancers	Right Ventricle	heart
15	chr11:72886600-72889200	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr11:72886600-72889200	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr11:72886600-72889200	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr11:72886600-72889400	Enhancers	Adipose Nuclei	Adipose
19	chr11:72886600-72889400	Enhancers	Placenta Amnion	Placenta Amnion
20	chr11:72886600-72889400	Flanking Active TSS	HepG2	liver
21	chr11:72886600-72889600	Enhancers	Placenta	Placenta
22	chr11:72886800-72889600	Enhancers	Primary B cells from cord blood	blood
23	chr11:72886800-72889600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr11:72886800-72889800	Enhancers	Spleen	Spleen
25	chr11:72887000-72889600	Enhancers	Fetal Stomach	stomach
26	chr11:72887200-72889200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr11:72887200-72889200	Enhancers	NHDF-Ad	bronchial
28	chr11:72887200-72889400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr11:72887200-72889400	Enhancers	Fetal Heart	heart
30	chr11:72887200-72889400	Enhancers	NHEK	skin
31	chr11:72887200-72889600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:72887200-72889600	Enhancers	Esophagus	oesophagus
33	chr11:72887200-72889600	Enhancers	HMEC	breast
34	chr11:72887200-72889800	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr11:72887400-72889800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:72887600-72893600	Weak transcription	Fetal Intestine Small	intestine
37	chr11:72887800-72889200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr11:72887800-72889200	Enhancers	Colonic Mucosa	Colon
39	chr11:72887800-72889600	Enhancers	Brain Substantia Nigra	brain
40	chr11:72888000-72889200	Enhancers	HSMM	muscle
41	chr11:72888000-72889200	Enhancers	NHLF	lung
42	chr11:72888200-72889200	Enhancers	Brain Cingulate Gyrus	brain
43	chr11:72888200-72889200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr11:72888200-72889200	Enhancers	Fetal Lung	lung
45	chr11:72888200-72889200	Enhancers	Stomach Mucosa	stomach
46	chr11:72888200-72889600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr11:72888200-72889600	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr11:72888200-72889600	Enhancers	Brain Angular Gyrus	brain
49	chr11:72888400-72889200	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr11:72888400-72889200	Enhancers	Fetal Brain Male	brain

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