Variant report

Variant	rs1981434
Chromosome Location	chr13:48881154-48881155
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	FOXA2	chr13:48881079-48881218	HepG2	liver:	n/a	n/a
2	FOXA1	chr13:48880910-48881410	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:48877164..48879255-chr13:48879403..48881439,2	K562	blood:
2	chr13:48880616..48882681-chr13:48883191..48885287,2	MCF-7	breast:

Variant related genes	Relation type
LINC00441	TF binding region
ENSG00000231473	Chromatin interaction
ENSG00000139687	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10219833	0.89[EUR][1000 genomes]
rs12100135	0.95[CEU][hapmap];0.85[EUR][1000 genomes]
rs12430215	0.91[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12871740	0.90[EUR][1000 genomes]
rs12875750	0.91[CEU][hapmap]
rs1573601	0.90[CEU][hapmap]
rs1886795	0.87[EUR][1000 genomes]
rs1951775	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap]
rs1981435	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs198563	0.86[CEU][hapmap]
rs198584	0.85[CEU][hapmap]
rs198590	0.86[CEU][hapmap]
rs198604	0.81[CEU][hapmap]
rs198607	0.85[CEU][hapmap]
rs198612	0.82[CEU][hapmap]
rs198619	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2243461	0.88[EUR][1000 genomes]
rs2243626	0.95[CEU][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2248488	0.91[CEU][hapmap];0.90[EUR][1000 genomes]
rs2251813	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2252544	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2253520	0.87[EUR][1000 genomes]
rs2254423	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2406933	0.87[EUR][1000 genomes]
rs34217484	0.86[EUR][1000 genomes]
rs3803188	0.95[CEU][hapmap]
rs3809328	0.95[CEU][hapmap];0.85[EUR][1000 genomes]
rs3818455	0.90[CEU][hapmap]
rs3825417	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs399413	0.90[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4151450	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4594153	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4600372	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4942765	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs520342	0.90[CEU][hapmap]
rs7358982	0.83[EUR][1000 genomes]
rs7984554	0.90[EUR][1000 genomes]
rs7984795	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs7999447	0.84[EUR][1000 genomes]
rs8001315	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9316367	0.90[CEU][hapmap]
rs9316369	0.91[CEU][hapmap]
rs9316381	0.85[CEU][hapmap]
rs943278	0.95[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs9526465	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs9526470	0.85[EUR][1000 genomes]
rs9526475	0.90[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9534998	0.90[CEU][hapmap]
rs9535002	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9535006	0.90[CEU][hapmap]
rs9535007	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9535009	0.90[CEU][hapmap]
rs9535011	0.89[EUR][1000 genomes]
rs9535015	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9535016	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9535018	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9535032	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs9562819	0.86[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9568026	0.84[EUR][1000 genomes]
rs9568029	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9568031	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9568035	0.81[CEU][hapmap]
rs990814	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1981434	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	chr13:48878800-48890800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr13:48879000-48882600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr13:48879000-48891000	Weak transcription	Esophagus	oesophagus
4	chr13:48879400-48881200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr13:48879400-48883600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr13:48879400-48890000	Weak transcription	Fetal Brain Male	brain
7	chr13:48879400-48890000	Weak transcription	Fetal Intestine Large	intestine
8	chr13:48879400-48894200	Weak transcription	A549	lung
9	chr13:48879600-48881200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr13:48879600-48884800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr13:48879600-48889400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr13:48879800-48892400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr13:48880000-48881400	Weak transcription	HSMM	muscle
14	chr13:48880000-48886000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr13:48880000-48888000	Weak transcription	K562	blood
16	chr13:48880000-48889400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr13:48880000-48892000	Weak transcription	HSMMtube	muscle
18	chr13:48880200-48881200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr13:48880200-48881200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr13:48880200-48881200	Enhancers	HepG2	liver
21	chr13:48880200-48881400	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr13:48880200-48881400	Active TSS	GM12878-XiMat	blood
23	chr13:48880200-48881600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr13:48880200-48881600	Weak transcription	Fetal Stomach	stomach
25	chr13:48880200-48882800	Strong transcription	Fetal Intestine Small	intestine
26	chr13:48880200-48886800	Weak transcription	Fetal Heart	heart
27	chr13:48880200-48888000	Weak transcription	Fetal Lung	lung
28	chr13:48880200-48889200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr13:48880200-48890600	Weak transcription	NHLF	lung
30	chr13:48880200-48891400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr13:48880200-48892200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr13:48880200-48892200	Weak transcription	Fetal Kidney	kidney
33	chr13:48880200-48892200	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr13:48880200-48892600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr13:48880200-48892600	Weak transcription	NH-A	brain
36	chr13:48880200-48893800	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr13:48880200-48894400	Weak transcription	Brain Anterior Caudate	brain
38	chr13:48880200-48913200	Weak transcription	Aorta	Aorta
39	chr13:48880400-48881800	Weak transcription	Liver	Liver
40	chr13:48880400-48889600	Weak transcription	Fetal Brain Female	brain
41	chr13:48880400-48890200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr13:48880400-48890400	Weak transcription	Gastric	stomach
43	chr13:48880400-48890400	Weak transcription	Lung	lung
44	chr13:48880400-48890800	Weak transcription	Duodenum Mucosa	Duodenum
45	chr13:48880400-48891000	Weak transcription	Fetal Muscle Trunk	muscle
46	chr13:48880400-48891200	Weak transcription	Placenta	Placenta
47	chr13:48880400-48892400	Weak transcription	HMEC	breast
48	chr13:48880400-48892600	Weak transcription	Primary hematopoietic stem cells	blood
49	chr13:48880600-48881200	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr13:48880600-48881200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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