Variant report

Variant	rs9332267
Chromosome Location	chr13:48826116-48826117
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr13:48826032-48826232	IMR90	lung:	n/a	n/a
2	POLR2A	chr13:48825334-48826276	HepG2	liver:	n/a	n/a
3	POLR2A	chr13:48825887-48826394	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:48825760..48827717-chr13:48828186..48830367,2	MCF-7	breast:
2	chr13:48806836..48808802-chr13:48825261..48827640,2	K562	blood:
3	chr13:48817502..48820153-chr13:48824701..48826920,2	MCF-7	breast:
4	chr13:48821859..48823433-chr13:48823611..48826198,2	K562	blood:
5	chr13:48807302..48809284-chr13:48825109..48826761,2	K562	blood:

No data

Variant related genes	Relation type
ITM2B	TF binding region
ENSG00000136156	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs3092863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4151419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4151432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4151495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4151545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4151581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4151627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7320277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7327171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7329387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7333971	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7982092	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7982457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8000807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8002958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9332279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9332286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9332306	1.00[AFR][1000 genomes];1.00[AMR][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	nsv541766	chr13:48703229-48857639	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48808400-48829000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:48808400-48829200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:48808400-48843600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:48809600-48837400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr13:48809800-48829200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr13:48810400-48830200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr13:48810800-48841000	Weak transcription	Hela-S3	cervix
8	chr13:48811200-48843800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr13:48811400-48828200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr13:48811600-48827600	Weak transcription	Thymus	Thymus
11	chr13:48811600-48829000	Weak transcription	Colonic Mucosa	Colon
12	chr13:48811600-48829600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr13:48811600-48835600	Weak transcription	Fetal Brain Male	brain
14	chr13:48811600-48836800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr13:48811800-48826400	Weak transcription	Psoas Muscle	Psoas
16	chr13:48811800-48827600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr13:48811800-48828000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr13:48811800-48828200	Weak transcription	Aorta	Aorta
19	chr13:48812200-48826200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr13:48812200-48828200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr13:48812400-48826200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr13:48812400-48827600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr13:48812400-48827600	Weak transcription	HUVEC	blood vessel
24	chr13:48812400-48827800	Weak transcription	HMEC	breast
25	chr13:48812400-48827800	Weak transcription	NH-A	brain
26	chr13:48812400-48828000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr13:48812400-48828200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr13:48812600-48827800	Weak transcription	Osteobl	bone
29	chr13:48813400-48829600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr13:48813600-48826400	Weak transcription	Right Atrium	heart
31	chr13:48813600-48828200	Weak transcription	HSMM	muscle
32	chr13:48814000-48828200	Weak transcription	NHEK	skin
33	chr13:48814200-48827600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr13:48814200-48827800	Weak transcription	Fetal Muscle Trunk	muscle
35	chr13:48814200-48827800	Weak transcription	A549	lung
36	chr13:48814200-48828000	Weak transcription	Fetal Intestine Large	intestine
37	chr13:48814200-48828200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr13:48814600-48826400	Weak transcription	Fetal Stomach	stomach
39	chr13:48814600-48827800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr13:48815200-48827800	Weak transcription	Primary hematopoietic stem cells	blood
41	chr13:48815600-48826400	Weak transcription	Esophagus	oesophagus
42	chr13:48815600-48826400	Weak transcription	Right Ventricle	heart
43	chr13:48815600-48827600	Weak transcription	Fetal Intestine Small	intestine
44	chr13:48816000-48827600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr13:48816400-48827800	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr13:48817200-48826200	Weak transcription	HepG2	liver
47	chr13:48817400-48828000	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr13:48817600-48827800	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr13:48818600-48827600	Weak transcription	Dnd41	blood
50	chr13:48818600-48828400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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