Variant report

Variant	rs9522013
Chromosome Location	chr13:111607503-111607504
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	chr13:111596342..111598319-chr13:111607475..111610357,3	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11619139	0.80[EUR][1000 genomes]
rs12870400	0.85[EUR][1000 genomes]
rs61969313	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9522015	0.83[EUR][1000 genomes]
rs9522018	0.83[EUR][1000 genomes]
rs9522028	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044340	chr13:111234073-111692994	Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	240 gene(s)	inside rSNPs	diseases
2	nsv1048700	chr13:111265350-111658617	Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	240 gene(s)	inside rSNPs	diseases
3	nsv1050379	chr13:111516429-111701302	Genic enhancers Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv541927	chr13:111516429-111701302	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Active TSS 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 miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv456121	chr13:111583422-111660113	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv563162	chr13:111583422-111660113	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv563164	chr13:111595399-111625091	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1045197	chr13:111596127-111642187	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1048206	chr13:111596127-111651763	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1037826	chr13:111596401-111639765	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv1045417	chr13:111603363-111642187	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv976152	chr13:111604319-111609360	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111604600-111610200	Enhancers	Placenta	Placenta
2	chr13:111605400-111608000	Enhancers	Fetal Muscle Trunk	muscle
3	chr13:111605600-111609600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr13:111605800-111607600	Enhancers	Ovary	ovary
5	chr13:111606200-111607800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr13:111606400-111607800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr13:111606400-111608200	Enhancers	NHLF	lung
8	chr13:111606400-111608800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr13:111606600-111607600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr13:111606600-111607600	Enhancers	Placenta Amnion	Placenta Amnion
11	chr13:111606600-111608000	Enhancers	Stomach Mucosa	stomach
12	chr13:111606600-111608800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr13:111606600-111608800	Enhancers	NHDF-Ad	bronchial
14	chr13:111606800-111607800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr13:111606800-111608200	Enhancers	HUVEC	blood vessel
16	chr13:111606800-111608200	Enhancers	K562	blood
17	chr13:111607000-111607600	Enhancers	Left Ventricle	heart
18	chr13:111607000-111607600	Enhancers	Right Atrium	heart
19	chr13:111607000-111607800	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr13:111607000-111607800	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr13:111607000-111607800	Enhancers	HMEC	breast
22	chr13:111607000-111608000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr13:111607000-111608000	Enhancers	NH-A	brain
24	chr13:111607000-111608200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr13:111607000-111608800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr13:111607000-111608800	Enhancers	Fetal Muscle Leg	muscle
27	chr13:111607200-111607600	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr13:111607200-111607600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr13:111607200-111607600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr13:111607200-111607600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr13:111607200-111607600	Enhancers	Fetal Heart	heart
32	chr13:111607200-111607600	Flanking Active TSS	Hela-S3	cervix
33	chr13:111607200-111607600	Flanking Active TSS	HSMMtube	muscle
34	chr13:111607200-111607600	Flanking Active TSS	Osteobl	bone
35	chr13:111607200-111607800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr13:111607200-111607800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr13:111607200-111607800	Enhancers	NHEK	skin
38	chr13:111607200-111608000	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr13:111607200-111608000	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr13:111607200-111608000	Enhancers	Fetal Stomach	stomach
41	chr13:111607200-111608000	Enhancers	Stomach Smooth Muscle	stomach
42	chr13:111607200-111608200	Enhancers	A549	lung
43	chr13:111607200-111608200	Enhancers	HSMM	muscle
44	chr13:111607400-111607600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr13:111607400-111607600	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr13:111607400-111607600	Enhancers	Right Ventricle	heart
47	chr13:111607400-111607800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr13:111607400-111607800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr13:111607400-111607800	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr13:111607400-111608200	Enhancers	HUES6 Cell Line	embryonic stem cell

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