Variant report

Variant	rs3020645
Chromosome Location	chr13:49004885-49004886
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:49002533..49005304-chr13:49011624..49014276,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12583516	0.86[EUR][1000 genomes]
rs1894255	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs198561	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs198563	0.82[AFR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs198570	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs198584	0.85[EUR][1000 genomes]
rs198590	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs198604	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs198607	0.83[ASN][1000 genomes]
rs198612	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs198634	0.84[EUR][1000 genomes]
rs3092904	0.85[EUR][1000 genomes]
rs375105	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4151520	0.83[EUR][1000 genomes]
rs471911	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs520342	0.84[EUR][1000 genomes]
rs9316381	0.85[EUR][1000 genomes]
rs9316388	0.80[EUR][1000 genomes]
rs9316393	0.80[EUR][1000 genomes]
rs9568032	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9568034	0.81[AFR][1000 genomes]
rs9568035	0.81[AFR][1000 genomes];0.81[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	nsv832602	chr13:49003159-49167781	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3020645	ITM2B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48976000-49005800	Weak transcription	Hela-S3	cervix
2	chr13:48987600-49005600	Weak transcription	Brain Hippocampus Middle	brain
3	chr13:48987600-49005800	Weak transcription	Aorta	Aorta
4	chr13:48987600-49005800	Weak transcription	HSMM	muscle
5	chr13:48987600-49010400	Weak transcription	Psoas Muscle	Psoas
6	chr13:48987800-49005200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr13:48987800-49006000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr13:48987800-49006200	Weak transcription	A549	lung
9	chr13:48987800-49006400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr13:48988800-49005600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr13:48990200-49005200	Weak transcription	NHDF-Ad	bronchial
12	chr13:48990800-49011600	Weak transcription	Left Ventricle	heart
13	chr13:48990800-49030800	Weak transcription	Ovary	ovary
14	chr13:48991400-49005800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr13:48991400-49006200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr13:48991400-49010200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr13:48991400-49013200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr13:48991400-49018600	Weak transcription	Thymus	Thymus
19	chr13:48991400-49019200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr13:48991400-49030600	Weak transcription	Spleen	Spleen
21	chr13:48991600-49005800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr13:48991600-49010800	Weak transcription	Fetal Stomach	stomach
23	chr13:48991800-49005600	Weak transcription	Fetal Lung	lung
24	chr13:48991800-49010000	Weak transcription	Primary B cells from peripheral blood	blood
25	chr13:48991800-49018800	Weak transcription	Fetal Thymus	thymus
26	chr13:48992000-49005200	Weak transcription	Primary T cells from cord blood	blood
27	chr13:48992000-49005800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr13:48994800-49018000	Weak transcription	Primary B cells from cord blood	blood
29	chr13:48996600-49010400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr13:48997800-49011200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr13:48998200-49005400	Weak transcription	Primary hematopoietic stem cells	blood
32	chr13:48998400-49005800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr13:48998600-49005800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr13:48999000-49024400	Weak transcription	Fetal Muscle Leg	muscle
35	chr13:49001000-49005800	Weak transcription	Brain Substantia Nigra	brain
36	chr13:49001200-49005000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr13:49001200-49005200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr13:49001200-49005800	Weak transcription	Brain Anterior Caudate	brain
39	chr13:49001200-49009600	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr13:49001200-49009800	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr13:49001400-49005200	Weak transcription	Dnd41	blood
42	chr13:49001400-49010600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr13:49001400-49022400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr13:49001400-49024600	Weak transcription	Fetal Intestine Small	intestine
45	chr13:49003000-49007000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr13:49003000-49012600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr13:49003400-49006200	Enhancers	HepG2	liver
48	chr13:49003600-49005600	Weak transcription	HUVEC	blood vessel
49	chr13:49003600-49006600	Weak transcription	Esophagus	oesophagus
50	chr13:49003600-49008800	Weak transcription	Lung	lung

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