Variant report

Variant	rs9332285
Chromosome Location	chr13:48830708-48830709
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr13:48830401-48830765	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr13:48823136..48824828-chr13:48830580..48833314,2	K562	blood:
2	chr13:48816853..48818808-chr13:48829859..48831555,2	K562	blood:
3	chr13:48823943..48826005-chr13:48829324..48832126,2	MCF-7	breast:
4	chr13:48805537..48807049-chr13:48830310..48832562,2	K562	blood:
5	chr13:48830636..48832522-chr13:48834245..48836263,2	K562	blood:

No data

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

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1002865	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11556899	0.87[ASN][1000 genomes]
rs12584784	0.83[AMR][1000 genomes]
rs3092898	0.83[AMR][1000 genomes]
rs34692420	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3825419	1.00[YRI][hapmap]
rs56835880	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56955865	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60372626	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61683759	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73485077	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73485079	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73487044	0.87[ASN][1000 genomes]
rs73487048	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73487051	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73487055	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73487056	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73487058	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73495016	0.83[AMR][1000 genomes]
rs7983535	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7986777	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7993670	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7996717	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7999809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8002352	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8002765	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9332246	0.87[ASN][1000 genomes]
rs9332278	0.82[ASN][1000 genomes]
rs9332304	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9595874	0.87[ASN][1000 genomes]
rs9595875	0.87[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	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48808400-48843600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:48809600-48837400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr13:48810800-48841000	Weak transcription	Hela-S3	cervix
4	chr13:48811200-48843800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr13:48811600-48835600	Weak transcription	Fetal Brain Male	brain
6	chr13:48811600-48836800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr13:48823200-48832800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr13:48823400-48833200	Weak transcription	Small Intestine	intestine
9	chr13:48825200-48834000	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr13:48825200-48837000	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr13:48825400-48836800	Strong transcription	Primary B cells from peripheral blood	blood
12	chr13:48825400-48841200	Strong transcription	Fetal Thymus	thymus
13	chr13:48825400-48844400	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr13:48825800-48837400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr13:48826200-48840000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr13:48826400-48841200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr13:48826600-48833400	Weak transcription	Psoas Muscle	Psoas
18	chr13:48826600-48837000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr13:48826800-48832200	Weak transcription	NHLF	lung
20	chr13:48826800-48837400	Weak transcription	Right Atrium	heart
21	chr13:48826800-48842000	Weak transcription	K562	blood
22	chr13:48827400-48833200	Strong transcription	Primary T cells from cord blood	blood
23	chr13:48827400-48836600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr13:48827400-48836800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr13:48827400-48840200	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr13:48827600-48831200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
27	chr13:48827600-48831200	Strong transcription	Thymus	Thymus
28	chr13:48827600-48832200	Strong transcription	Fetal Kidney	kidney
29	chr13:48827600-48832600	Strong transcription	HUVEC	blood vessel
30	chr13:48827600-48834400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr13:48827600-48837000	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr13:48827600-48838800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr13:48827600-48839000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr13:48827600-48839800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr13:48827600-48839800	Strong transcription	Dnd41	blood
36	chr13:48827600-48841000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr13:48827600-48843600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr13:48827800-48831200	Strong transcription	HSMMtube	muscle
39	chr13:48827800-48831200	Strong transcription	NH-A	brain
40	chr13:48827800-48832800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr13:48827800-48833800	Strong transcription	HMEC	breast
42	chr13:48827800-48835000	Strong transcription	Fetal Muscle Trunk	muscle
43	chr13:48827800-48836600	Strong transcription	Primary B cells from cord blood	blood
44	chr13:48827800-48836600	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr13:48827800-48837200	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr13:48827800-48837600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr13:48827800-48838200	Strong transcription	Primary hematopoietic stem cells	blood
48	chr13:48827800-48839800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr13:48827800-48839800	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr13:48827800-48840800	Strong transcription	Placenta	Placenta

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