Variant report

Variant	rs7984795
Chromosome Location	chr13:48826819-48826820
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr13:48826785-48826975	K562	blood:	n/a	n/a

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:

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

Extended variants
information (count: 65 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10219833	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12100135	0.95[CEU][hapmap];0.95[EUR][1000 genomes]
rs12430215	0.91[CEU][hapmap]
rs12871662	0.85[EUR][1000 genomes]
rs12871740	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12875750	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs1573601	0.90[CEU][hapmap];0.85[EUR][1000 genomes]
rs1886795	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1925744	0.87[EUR][1000 genomes]
rs1925745	0.87[EUR][1000 genomes]
rs1951775	0.95[CEU][hapmap]
rs1981434	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs1981435	0.84[EUR][1000 genomes]
rs198563	0.86[CEU][hapmap]
rs198604	0.81[CEU][hapmap]
rs198607	0.85[CEU][hapmap]
rs198612	0.82[CEU][hapmap]
rs198619	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs2243461	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2243626	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2248488	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.97[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2251813	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2253520	0.92[EUR][1000 genomes]
rs2254423	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2406933	0.92[EUR][1000 genomes]
rs34217484	0.93[EUR][1000 genomes]
rs3803188	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs3809328	0.95[CEU][hapmap];0.95[EUR][1000 genomes]
rs3818455	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs399413	0.90[CEU][hapmap]
rs4151450	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs4594153	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4600372	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs520342	0.90[CEU][hapmap]
rs61973349	0.85[EUR][1000 genomes]
rs7322987	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7358982	0.93[EUR][1000 genomes]
rs7984554	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7999447	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8001315	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9316367	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs9316369	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs9526465	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9526466	0.87[EUR][1000 genomes]
rs9526470	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9526475	0.90[CEU][hapmap]
rs9534996	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9534998	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs9535000	0.87[EUR][1000 genomes]
rs9535002	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9535003	0.87[EUR][1000 genomes]
rs9535006	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs9535007	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9535009	0.90[CEU][hapmap];0.85[EUR][1000 genomes]
rs9535011	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9535016	0.82[EUR][1000 genomes]
rs9535032	0.95[CEU][hapmap]
rs9562819	0.86[CEU][hapmap]
rs9568026	0.90[EUR][1000 genomes]
rs9568027	0.85[EUR][1000 genomes]
rs9568028	0.85[EUR][1000 genomes]
rs9568029	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9568031	0.80[EUR][1000 genomes]
rs9568035	0.81[CEU][hapmap]

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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7984795	ITM2B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 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	chr13:48811800-48827600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr13:48811800-48828000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr13:48811800-48828200	Weak transcription	Aorta	Aorta
18	chr13:48812200-48828200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr13:48812400-48827600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr13:48812400-48827600	Weak transcription	HUVEC	blood vessel
21	chr13:48812400-48827800	Weak transcription	HMEC	breast
22	chr13:48812400-48827800	Weak transcription	NH-A	brain
23	chr13:48812400-48828000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr13:48812400-48828200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr13:48812600-48827800	Weak transcription	Osteobl	bone
26	chr13:48813400-48829600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr13:48813600-48828200	Weak transcription	HSMM	muscle
28	chr13:48814000-48828200	Weak transcription	NHEK	skin
29	chr13:48814200-48827600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr13:48814200-48827800	Weak transcription	Fetal Muscle Trunk	muscle
31	chr13:48814200-48827800	Weak transcription	A549	lung
32	chr13:48814200-48828000	Weak transcription	Fetal Intestine Large	intestine
33	chr13:48814200-48828200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr13:48814600-48827800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr13:48815200-48827800	Weak transcription	Primary hematopoietic stem cells	blood
36	chr13:48815600-48827600	Weak transcription	Fetal Intestine Small	intestine
37	chr13:48816000-48827600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr13:48816400-48827800	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr13:48817400-48828000	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr13:48817600-48827800	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr13:48818600-48827600	Weak transcription	Dnd41	blood
42	chr13:48818600-48828400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr13:48818600-48828800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr13:48819200-48827400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr13:48819200-48827800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr13:48820200-48827600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr13:48820400-48827800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr13:48820600-48827600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr13:48820600-48828000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr13:48820800-48827600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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