Variant report

Variant	rs73624520
Chromosome Location	chr13:110800629-110800630
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11841329	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16975290	1.00[EUR][1000 genomes]
rs521699	1.00[EUR][1000 genomes]
rs56294719	1.00[EUR][1000 genomes]
rs57652802	1.00[EUR][1000 genomes]
rs58702949	1.00[EUR][1000 genomes]
rs58824458	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60015252	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60279490	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61661904	1.00[EUR][1000 genomes]
rs626680	1.00[EUR][1000 genomes]
rs645511	1.00[EUR][1000 genomes]
rs666338	1.00[EUR][1000 genomes]
rs7319834	1.00[EUR][1000 genomes]
rs7320392	1.00[EUR][1000 genomes]
rs7326006	1.00[EUR][1000 genomes]
rs7332823	1.00[EUR][1000 genomes]
rs7333839	1.00[EUR][1000 genomes]
rs7333840	1.00[EUR][1000 genomes]
rs7337040	1.00[EUR][1000 genomes]
rs73611449	1.00[EUR][1000 genomes]
rs73622502	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73624503	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73624510	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73624516	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73624531	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7982267	1.00[EUR][1000 genomes]
rs7983033	1.00[EUR][1000 genomes]
rs7984919	1.00[EUR][1000 genomes]
rs7992629	1.00[EUR][1000 genomes]
rs7992797	1.00[EUR][1000 genomes]
rs8000352	1.00[EUR][1000 genomes]
rs9301428	1.00[EUR][1000 genomes]
rs9301430	1.00[EUR][1000 genomes]
rs9583454	1.00[EUR][1000 genomes]
rs9583455	1.00[EUR][1000 genomes]
rs9583456	1.00[EUR][1000 genomes]
rs9583457	1.00[EUR][1000 genomes]
rs9583462	1.00[EUR][1000 genomes]
rs9588062	1.00[EUR][1000 genomes]
rs9588085	1.00[EUR][1000 genomes]
rs9588086	1.00[EUR][1000 genomes]
rs9588087	1.00[EUR][1000 genomes]
rs9588099	1.00[EUR][1000 genomes]
rs9588106	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901006	chr13:110748857-110806490	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv456115	chr13:110756664-110806490	Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv563100	chr13:110756664-110806490	Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv1052147	chr13:110765635-110917782	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv901007	chr13:110793123-110813709	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
6	esv3398820	chr13:110796251-110800649	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110791200-110800800	Weak transcription	Fetal Intestine Large	intestine
2	chr13:110791200-110802400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr13:110791200-110807200	Weak transcription	Colonic Mucosa	Colon
4	chr13:110791200-110811600	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr13:110791200-110811800	Weak transcription	Right Atrium	heart
6	chr13:110791200-110825600	Weak transcription	Esophagus	oesophagus
7	chr13:110791400-110800800	Weak transcription	Placenta	Placenta
8	chr13:110791400-110801000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr13:110791400-110802200	Weak transcription	Fetal Heart	heart
10	chr13:110791400-110802400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr13:110791400-110802400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr13:110791400-110802400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr13:110791400-110802400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr13:110791400-110802600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr13:110791400-110802600	Weak transcription	Pancreas	Pancrea
16	chr13:110791400-110802600	Weak transcription	Spleen	Spleen
17	chr13:110791400-110802600	Weak transcription	NHEK	skin
18	chr13:110791400-110802600	Weak transcription	NHLF	lung
19	chr13:110791400-110802800	Weak transcription	Liver	Liver
20	chr13:110791400-110802800	Weak transcription	Fetal Intestine Small	intestine
21	chr13:110791400-110806600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr13:110791400-110812800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr13:110791400-110813400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr13:110791400-110820800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr13:110791400-110825800	Weak transcription	A549	lung
26	chr13:110791400-110868400	Weak transcription	Psoas Muscle	Psoas
27	chr13:110791600-110801000	Weak transcription	HMEC	breast
28	chr13:110791600-110802200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr13:110791600-110802400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr13:110791600-110802400	Weak transcription	Colon Smooth Muscle	Colon
31	chr13:110792600-110801400	Weak transcription	Fetal Lung	lung
32	chr13:110795600-110802600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr13:110795800-110826000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr13:110796000-110809200	Weak transcription	Brain Hippocampus Middle	brain
35	chr13:110796800-110801000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr13:110796800-110801400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr13:110796800-110802600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr13:110796800-110804000	Strong transcription	Fetal Muscle Trunk	muscle
39	chr13:110796800-110805600	Strong transcription	Adipose Nuclei	Adipose
40	chr13:110797200-110801000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr13:110797400-110804000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr13:110797600-110800800	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr13:110797600-110802600	Weak transcription	Fetal Stomach	stomach
44	chr13:110797800-110809200	Strong transcription	Stomach Smooth Muscle	stomach
45	chr13:110798000-110800800	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr13:110798200-110808600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr13:110798400-110802800	Strong transcription	Fetal Muscle Leg	muscle
48	chr13:110798400-110825400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr13:110798600-110802400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr13:110798600-110808200	Strong transcription	Aorta	Aorta

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