Variant report

Variant	rs12875750
Chromosome Location	chr13:48843122-48843123
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:48842870..48845790-chr13:48847077..48849095,2	MCF-7	breast:
2	chr13:48806447..48808014-chr13:48842820..48844768,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136156	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10219833	0.87[EUR][1000 genomes]
rs12100135	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12430215	0.81[CEU][hapmap]
rs12583516	0.84[ASN][1000 genomes]
rs12871662	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12871740	0.86[EUR][1000 genomes]
rs1573601	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1886795	0.87[EUR][1000 genomes]
rs1894255	0.85[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap]
rs1925744	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1925745	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1951775	0.85[CEU][hapmap]
rs1981434	0.91[CEU][hapmap]
rs198561	0.83[EUR][1000 genomes]
rs198563	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs198584	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs198590	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs198604	0.90[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.80[EUR][1000 genomes]
rs198607	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs198612	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs198619	0.91[CEU][hapmap]
rs198634	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2243461	0.86[EUR][1000 genomes]
rs2243626	0.86[CEU][hapmap];0.86[EUR][1000 genomes]
rs2248488	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs2251813	0.86[EUR][1000 genomes]
rs2253520	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2254423	0.86[EUR][1000 genomes]
rs2406933	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2854345	0.91[ASN][1000 genomes]
rs2854355	0.86[EUR][1000 genomes]
rs34217484	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs375105	0.81[EUR][1000 genomes]
rs3803188	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3809328	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3818455	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4151450	0.90[CEU][hapmap]
rs4151520	0.84[ASN][1000 genomes]
rs4594153	0.84[EUR][1000 genomes]
rs4600372	0.81[EUR][1000 genomes]
rs520342	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61973349	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7358982	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7984554	0.86[EUR][1000 genomes]
rs7984795	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs7999447	0.87[EUR][1000 genomes]
rs8001315	0.86[EUR][1000 genomes]
rs9316367	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9316369	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526465	0.91[CEU][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9526466	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9526470	0.89[EUR][1000 genomes]
rs9534998	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535002	0.86[EUR][1000 genomes]
rs9535003	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9535006	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9535007	0.84[EUR][1000 genomes]
rs9535009	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9535011	0.87[EUR][1000 genomes]
rs9535032	0.86[CEU][hapmap]
rs9562815	0.82[ASN][1000 genomes]
rs9568025	0.92[ASN][1000 genomes]
rs9568026	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9568027	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9568028	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9568029	0.91[CEU][hapmap];0.84[EUR][1000 genomes]
rs9568032	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9568033	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9568034	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9568035	0.85[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.81[EUR][1000 genomes];0.92[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12875750	ITM2B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:102 , 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	chr13:48811200-48843800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr13:48825400-48844400	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr13:48827600-48843600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr13:48827800-48843800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr13:48828600-48845800	Weak transcription	Stomach Mucosa	stomach
7	chr13:48829800-48843400	Weak transcription	Spleen	Spleen
8	chr13:48832800-48845200	Weak transcription	Fetal Intestine Small	intestine
9	chr13:48833000-48843200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr13:48833600-48843600	Weak transcription	Pancreas	Pancrea
11	chr13:48833600-48844400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr13:48833800-48851600	Weak transcription	Fetal Heart	heart
13	chr13:48835800-48849400	Weak transcription	NHLF	lung
14	chr13:48837800-48848000	Weak transcription	A549	lung
15	chr13:48837800-48848600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr13:48837800-48848600	Weak transcription	Fetal Brain Female	brain
17	chr13:48837800-48853000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr13:48837800-48856400	Weak transcription	Colon Smooth Muscle	Colon
19	chr13:48838000-48843200	Weak transcription	Brain Angular Gyrus	brain
20	chr13:48838000-48843400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr13:48838000-48845200	Weak transcription	Brain Germinal Matrix	brain
22	chr13:48838000-48845600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr13:48838000-48845600	Weak transcription	HMEC	breast
24	chr13:48838000-48847000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr13:48838000-48847800	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr13:48838000-48847800	Weak transcription	Psoas Muscle	Psoas
27	chr13:48838000-48849600	Weak transcription	Right Ventricle	heart
28	chr13:48838000-48850000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr13:48838000-48850000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr13:48838000-48852800	Weak transcription	HUVEC	blood vessel
31	chr13:48838200-48845400	Weak transcription	Fetal Intestine Large	intestine
32	chr13:48838200-48849600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr13:48838400-48845200	Weak transcription	Osteobl	bone
34	chr13:48838400-48846600	Weak transcription	NHDF-Ad	bronchial
35	chr13:48838400-48847000	Weak transcription	Brain Substantia Nigra	brain
36	chr13:48838600-48843800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr13:48839200-48845200	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr13:48839200-48846200	Weak transcription	Brain Hippocampus Middle	brain
39	chr13:48839800-48843200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr13:48839800-48843200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr13:48839800-48843200	Weak transcription	Fetal Muscle Trunk	muscle
42	chr13:48839800-48843400	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr13:48839800-48843400	Weak transcription	Gastric	stomach
44	chr13:48839800-48843400	Weak transcription	Dnd41	blood
45	chr13:48839800-48844400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr13:48839800-48845000	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr13:48839800-48845600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr13:48839800-48845600	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr13:48839800-48848600	Weak transcription	Rectal Smooth Muscle	rectum
50	chr13:48839800-48850200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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