Variant report

Variant	rs861727
Chromosome Location	chr13:30798807-30798808
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30796832..30799585-chr13:30801538..30805408,3	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1099846	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1099848	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs169332	0.82[ASN][1000 genomes]
rs175730	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1964165	0.90[EUR][1000 genomes]
rs202085	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs202094	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs202095	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs202096	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs202112	0.83[EUR][1000 genomes]
rs202113	0.92[EUR][1000 genomes]
rs202114	0.92[EUR][1000 genomes]
rs594411	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs605095	0.82[ASN][1000 genomes]
rs648538	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs652053	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs666245	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs674253	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs846486	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs846488	0.82[EUR][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
rs861727	KATNAL1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30765600-30807000	Weak transcription	Gastric	stomach
2	chr13:30766400-30804400	Weak transcription	Duodenum Mucosa	Duodenum
3	chr13:30770000-30799200	Weak transcription	HSMMtube	muscle
4	chr13:30770600-30803200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr13:30774400-30812600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr13:30774600-30802800	Weak transcription	Lung	lung
7	chr13:30774600-30805200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr13:30775000-30803000	Weak transcription	Esophagus	oesophagus
9	chr13:30777200-30799000	Weak transcription	Brain Angular Gyrus	brain
10	chr13:30780200-30801000	Weak transcription	Pancreas	Pancrea
11	chr13:30783200-30799000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr13:30790000-30807000	Weak transcription	Small Intestine	intestine
13	chr13:30790800-30799000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr13:30791000-30799000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr13:30791000-30799000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr13:30791000-30799000	Weak transcription	Aorta	Aorta
17	chr13:30791000-30799000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr13:30791000-30802600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr13:30791000-30802600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr13:30791000-30807200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr13:30791000-30808800	Weak transcription	Brain Hippocampus Middle	brain
22	chr13:30791000-30811600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr13:30791000-30831400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr13:30792400-30802600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr13:30794000-30801200	Weak transcription	Colon Smooth Muscle	Colon
26	chr13:30795000-30800000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr13:30795400-30799000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr13:30795800-30805600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr13:30796200-30799400	ZNF genes & repeats	Primary B cells from cord blood	blood
30	chr13:30796200-30799600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
31	chr13:30796200-30799600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr13:30796200-30800400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr13:30796400-30799800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
34	chr13:30796400-30800000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr13:30796400-30801600	ZNF genes & repeats	Dnd41	blood
36	chr13:30796600-30799000	Weak transcription	Ovary	ovary
37	chr13:30796600-30799200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr13:30796600-30799400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr13:30796600-30800000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
40	chr13:30796600-30800400	ZNF genes & repeats	Fetal Brain Female	brain
41	chr13:30796600-30807000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr13:30796600-30808600	Weak transcription	Brain Substantia Nigra	brain
43	chr13:30796800-30799000	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr13:30796800-30799000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr13:30796800-30799000	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr13:30796800-30799000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr13:30796800-30799000	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr13:30796800-30800400	Weak transcription	HSMM	muscle
49	chr13:30796800-30802800	Weak transcription	Fetal Intestine Large	intestine
50	chr13:30796800-30802800	Weak transcription	K562	blood

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