Variant report

Variant	rs3812874
Chromosome Location	chr13:61989175-61989176
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17059806	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2210134	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3812875	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4366613	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57079391	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9570576	0.80[JPT][hapmap];0.83[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv900245	chr13:61873379-62057698	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv948661	chr13:61906251-62179649	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv2761266	chr13:61928642-62690828	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv510587	chr13:61979753-61994053	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv832628	chr13:61985540-62153692	Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:61987200-61990200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr13:61987200-61990200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr13:61987400-61989800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr13:61987600-61989200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr13:61987600-61989600	Active TSS	Aorta	Aorta
6	chr13:61987600-61989800	Active TSS	Colon Smooth Muscle	Colon
7	chr13:61987600-61989800	Active TSS	Rectal Smooth Muscle	rectum
8	chr13:61987600-61990200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
9	chr13:61987600-61990200	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr13:61987600-61990600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr13:61987600-61990600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr13:61987600-61990800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
13	chr13:61987800-61989200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
14	chr13:61987800-61989200	Bivalent/Poised TSS	Fetal Thymus	thymus
15	chr13:61987800-61989400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr13:61987800-61989400	Bivalent/Poised TSS	HUVEC	blood vessel
17	chr13:61987800-61989600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr13:61987800-61989600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
19	chr13:61987800-61989800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr13:61987800-61989800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr13:61987800-61989800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
22	chr13:61987800-61989800	Active TSS	Right Atrium	heart
23	chr13:61987800-61990000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr13:61987800-61990000	Active TSS	Brain Angular Gyrus	brain
25	chr13:61987800-61990000	Active TSS	Fetal Kidney	kidney
26	chr13:61987800-61990200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
27	chr13:61987800-61990200	Active TSS	Fetal Heart	heart
28	chr13:61987800-61990200	Active TSS	Right Ventricle	heart
29	chr13:61988000-61989200	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr13:61988000-61989400	Enhancers	Spleen	Spleen
31	chr13:61988000-61989800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr13:61988000-61989800	Active TSS	Colonic Mucosa	Colon
33	chr13:61988000-61990000	Active TSS	Brain Anterior Caudate	brain
34	chr13:61988000-61990200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
35	chr13:61988000-61990200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr13:61988000-61990600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
37	chr13:61988200-61989200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
38	chr13:61988200-61989800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr13:61988200-61989800	Active TSS	Brain Substantia Nigra	brain
40	chr13:61988200-61989800	Active TSS	Gastric	stomach
41	chr13:61988200-61989800	Active TSS	Left Ventricle	heart
42	chr13:61988200-61990000	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr13:61988400-61989400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
44	chr13:61988400-61989600	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr13:61988400-61989600	Active TSS	Stomach Mucosa	stomach
46	chr13:61988400-61989800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr13:61988400-61989800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr13:61988400-61990000	Flanking Active TSS	Liver	Liver
49	chr13:61988400-61990000	Active TSS	Brain Hippocampus Middle	brain
50	chr13:61988600-61989200	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast

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