Variant report

Variant	rs202096
Chromosome Location	chr13:30820199-30820200
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1099846	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1099848	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs175730	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs202085	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs202094	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs202095	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs202112	0.80[EUR][1000 genomes]
rs202113	0.82[EUR][1000 genomes]
rs202114	0.82[EUR][1000 genomes]
rs594411	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs648538	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs652053	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs666245	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs674253	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs846486	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs861727	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][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	nsv832572	chr13:30650005-30835256	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs202096	KATNAL1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30791000-30831400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr13:30796800-30831400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr13:30797000-30823400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr13:30799200-30831400	Weak transcription	Aorta	Aorta
5	chr13:30799400-30823200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr13:30799400-30831600	Weak transcription	Right Ventricle	heart
7	chr13:30799600-30823400	Weak transcription	A549	lung
8	chr13:30799600-30823400	Weak transcription	NHEK	skin
9	chr13:30799600-30845200	Weak transcription	HMEC	breast
10	chr13:30801000-30821200	Weak transcription	Fetal Brain Male	brain
11	chr13:30803000-30831400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr13:30803400-30827800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr13:30803600-30830400	Weak transcription	Fetal Heart	heart
14	chr13:30803600-30831400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr13:30803800-30823200	Weak transcription	Fetal Intestine Large	intestine
16	chr13:30804400-30831600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr13:30804800-30823400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr13:30805600-30822600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr13:30805600-30823200	Weak transcription	Liver	Liver
20	chr13:30805600-30823400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr13:30805600-30823400	Weak transcription	Fetal Brain Female	brain
22	chr13:30805600-30823400	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr13:30805600-30831600	Weak transcription	Left Ventricle	heart
24	chr13:30805600-30831600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr13:30805600-30841800	Weak transcription	Ovary	ovary
26	chr13:30805600-30853200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr13:30808200-30823400	Weak transcription	Fetal Lung	lung
28	chr13:30809000-30823400	Weak transcription	Brain Substantia Nigra	brain
29	chr13:30809400-30823200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr13:30809400-30823400	Weak transcription	Brain Hippocampus Middle	brain
31	chr13:30809800-30823200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr13:30810000-30823200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr13:30810000-30831600	Weak transcription	NHLF	lung
34	chr13:30810400-30821800	Weak transcription	Fetal Muscle Leg	muscle
35	chr13:30810600-30823200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr13:30810600-30849200	Weak transcription	Fetal Muscle Trunk	muscle
37	chr13:30811000-30823600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr13:30811400-30822800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr13:30812400-30823200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr13:30813000-30823200	Weak transcription	Thymus	Thymus
41	chr13:30813000-30823400	Weak transcription	Fetal Kidney	kidney
42	chr13:30813000-30823400	Weak transcription	HSMM	muscle
43	chr13:30813000-30827800	Weak transcription	HUVEC	blood vessel
44	chr13:30813000-30849000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr13:30813200-30821400	Weak transcription	Primary hematopoietic stem cells	blood
46	chr13:30814600-30823400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr13:30814800-30823200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr13:30814800-30831400	Weak transcription	NH-A	brain
49	chr13:30815000-30823400	Weak transcription	Primary B cells from cord blood	blood
50	chr13:30815200-30823200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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