Variant report

Variant	rs60079521
Chromosome Location	chr11:34622188-34622189
allele	C/T
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:34621491..34624249-chr11:34628284..34630730,3	K562	blood:
2	chr11:34622016..34626475-chr11:34634436..34638216,4	K562	blood:
3	chr11:34620874..34623895-chr11:34625978..34628773,4	K562	blood:
4	chr11:34608832..34611723-chr11:34620873..34624079,3	K562	blood:
5	chr11:34621214..34622751-chr11:34769844..34772782,2	MCF-7	breast:
6	chr11:34621759..34624230-chr11:34829278..34830946,2	K562	blood:
7	chr11:34620936..34622716-chr11:34642781..34645186,2	K562	blood:
8	chr11:34621045..34623041-chr11:34631011..34633370,3	K562	blood:
9	chr11:34621233..34623041-chr11:34631125..34633370,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000135373	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1377497	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1551291	0.91[AMR][1000 genomes]
rs286946	0.80[AMR][1000 genomes]
rs286949	0.80[AMR][1000 genomes]
rs286950	0.80[AMR][1000 genomes]
rs286952	0.80[AMR][1000 genomes]
rs55815243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56267737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58418741	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58684591	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59692197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60324781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7122724	0.85[AMR][1000 genomes]

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	nsv832116	chr11:34539536-34673900	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34608400-34643600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:34619200-34623000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr11:34620000-34626600	Enhancers	NHEK	skin
4	chr11:34620400-34622400	Enhancers	HUVEC	blood vessel
5	chr11:34620400-34623400	Enhancers	HSMM	muscle
6	chr11:34620400-34624600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:34620600-34622200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr11:34620600-34622200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr11:34620600-34622400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr11:34620600-34622600	Enhancers	HMEC	breast
11	chr11:34620600-34622600	Enhancers	NHDF-Ad	bronchial
12	chr11:34620600-34623000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr11:34620600-34623000	Enhancers	Osteobl	bone
14	chr11:34620600-34623200	Enhancers	NH-A	brain
15	chr11:34620600-34623200	Enhancers	NHLF	lung
16	chr11:34620600-34624000	Enhancers	Fetal Lung	lung
17	chr11:34620600-34628400	Enhancers	Fetal Intestine Small	intestine
18	chr11:34620600-34628600	Enhancers	Fetal Intestine Large	intestine
19	chr11:34620800-34622600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr11:34620800-34622800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr11:34620800-34622800	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr11:34620800-34623000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr11:34620800-34623000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr11:34620800-34623000	Enhancers	Esophagus	oesophagus
25	chr11:34620800-34623000	Enhancers	Right Atrium	heart
26	chr11:34620800-34623400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:34620800-34623400	Flanking Active TSS	A549	lung
28	chr11:34620800-34623600	Enhancers	Fetal Muscle Leg	muscle
29	chr11:34620800-34623600	Enhancers	Fetal Stomach	stomach
30	chr11:34620800-34625800	Enhancers	Pancreas	Pancrea
31	chr11:34621000-34622200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr11:34621000-34622600	Enhancers	Stomach Mucosa	stomach
33	chr11:34621000-34622800	Enhancers	Left Ventricle	heart
34	chr11:34621000-34623200	Enhancers	Lung	lung
35	chr11:34621000-34623400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr11:34621000-34623400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr11:34621200-34622600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr11:34621200-34622800	Enhancers	Adipose Nuclei	Adipose
39	chr11:34621200-34623400	Enhancers	Hela-S3	cervix
40	chr11:34621200-34623400	Flanking Active TSS	HepG2	liver
41	chr11:34621200-34624200	Weak transcription	Gastric	stomach
42	chr11:34621400-34622200	Enhancers	Right Ventricle	heart
43	chr11:34621400-34622400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
44	chr11:34621400-34623000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr11:34621400-34623200	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr11:34621400-34623400	Enhancers	Liver	Liver
47	chr11:34621600-34622200	Flanking Active TSS	K562	blood
48	chr11:34621600-34622800	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr11:34621600-34623400	Enhancers	Fetal Heart	heart
50	chr11:34621800-34622200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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