Variant report

Variant	rs9508689
Chromosome Location	chr13:30850443-30850444
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]
rs11839528	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11841168	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs202086	0.88[ASN][1000 genomes]
rs202087	0.84[ASN][1000 genomes]
rs202092	0.92[ASN][1000 genomes]
rs202111	0.88[ASN][1000 genomes]
rs624552	0.96[ASN][1000 genomes]
rs645899	0.92[ASN][1000 genomes]
rs651612	0.92[ASN][1000 genomes]
rs7320179	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs846489	0.96[ASN][1000 genomes]
rs846491	0.96[ASN][1000 genomes]
rs9508682	0.84[ASN][1000 genomes]
rs9508683	0.92[ASN][1000 genomes]
rs9508686	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9508687	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv899962	chr13:30831422-30863235	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9508689	KATNAL1	cis	brain	BrainEAC

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30805600-30853200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr13:30826800-30860400	Weak transcription	Esophagus	oesophagus
3	chr13:30828600-30857600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr13:30832200-30855400	Weak transcription	Fetal Brain Male	brain
5	chr13:30832200-30861000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr13:30832200-30863400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr13:30832200-30863800	Weak transcription	HSMMtube	muscle
8	chr13:30832400-30859400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr13:30834600-30853000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr13:30837200-30853000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr13:30837800-30860000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr13:30840400-30859800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr13:30841600-30853200	Weak transcription	Adipose Nuclei	Adipose
14	chr13:30842000-30853200	Weak transcription	Fetal Kidney	kidney
15	chr13:30842400-30853600	Weak transcription	Colon Smooth Muscle	Colon
16	chr13:30842400-30858200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr13:30842400-30863800	Weak transcription	Ovary	ovary
18	chr13:30842800-30853400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr13:30843000-30851200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr13:30843000-30853400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr13:30843000-30857600	Weak transcription	A549	lung
22	chr13:30843000-30880200	Weak transcription	Fetal Stomach	stomach
23	chr13:30843600-30855800	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr13:30844000-30854800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr13:30844800-30853200	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr13:30845200-30866200	Weak transcription	Small Intestine	intestine
27	chr13:30845600-30853200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr13:30845600-30863400	Weak transcription	K562	blood
29	chr13:30845800-30853000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr13:30847000-30859800	Weak transcription	Brain Germinal Matrix	brain
31	chr13:30847200-30859400	Weak transcription	Brain Anterior Caudate	brain
32	chr13:30847200-30860400	Weak transcription	Brain Substantia Nigra	brain
33	chr13:30847200-30876000	Weak transcription	Lung	lung
34	chr13:30847400-30860800	Weak transcription	Spleen	Spleen
35	chr13:30847400-30867800	Weak transcription	Right Ventricle	heart
36	chr13:30847400-30870200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr13:30847600-30851200	Weak transcription	HUVEC	blood vessel
38	chr13:30847600-30857200	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr13:30848000-30862600	Weak transcription	HepG2	liver
40	chr13:30848200-30853200	Weak transcription	Left Ventricle	heart
41	chr13:30848200-30857600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr13:30848800-30851000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr13:30848800-30851000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr13:30848800-30853200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr13:30849000-30851600	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr13:30849000-30853200	Weak transcription	Liver	Liver
47	chr13:30849000-30856000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr13:30849000-30862800	Weak transcription	Fetal Heart	heart
49	chr13:30849200-30850600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr13:30849200-30851200	Strong transcription	Fetal Brain Female	brain

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