Variant report

Variant	rs4145207
Chromosome Location	chr13:80056501-80056502
allele	C/T
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	chr13:80054410-80058154	MCF10A-Er-Src	breast:	n/a	n/a
2	STAT3	chr13:80055842-80056697	MCF10A-Er-Src	breast:	n/a	n/a
3	CEBPB	chr13:80056441-80056980	IMR90	lung:	n/a	n/a
4	POLR2A	chr13:80055963-80056787	K562	blood:	n/a	n/a
5	STAT3	chr13:80055602-80056572	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr13:80054586-80058161	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr13:80056405-80056704	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:79977332..79980292-chr13:80055643..80057700,2	K562	blood:
2	chr13:80056153..80058862-chr13:80062367..80066425,4	K562	blood:
3	chr13:79979196..79982246-chr13:80054691..80057070,3	MCF-7	breast:

Variant related genes	Relation type
NDFIP2-AS1	TF binding region
ENSG00000139746	Chromatin interaction
ENSG00000227354	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1208049	0.86[ASN][1000 genomes]
rs1212082	0.89[ASN][1000 genomes]
rs1335368	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1335370	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1408049	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1414155	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1414156	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1475797	0.91[ASN][1000 genomes]
rs1577416	0.94[ASN][1000 genomes]
rs1577418	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2065743	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2181433	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2476173	0.89[ASN][1000 genomes]
rs2484343	0.89[ASN][1000 genomes]
rs2484344	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2760101	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2760102	0.89[ASN][1000 genomes]
rs2760103	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2760105	0.90[ASN][1000 genomes]
rs2760106	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2783119	0.92[ASN][1000 genomes]
rs2783120	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2783121	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2783122	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2783125	0.81[ASN][1000 genomes]
rs2783126	0.81[ASN][1000 genomes]
rs2783127	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs314687	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs314688	0.85[ASN][1000 genomes]
rs314689	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs386603	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4476060	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4885633	0.88[ASN][1000 genomes]
rs4885634	0.96[ASN][1000 genomes]
rs4885636	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6563110	0.94[ASN][1000 genomes]
rs6563113	0.96[ASN][1000 genomes]
rs6563115	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6563116	0.91[ASN][1000 genomes]
rs700396	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7321953	0.92[ASN][1000 genomes]
rs73235963	0.89[ASN][1000 genomes]
rs7325095	0.84[ASN][1000 genomes]
rs7338530	0.94[ASN][1000 genomes]
rs7339303	0.92[ASN][1000 genomes]
rs7982263	0.95[ASN][1000 genomes]
rs7988601	0.94[ASN][1000 genomes]
rs7990250	0.94[EUR][1000 genomes]
rs7990344	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7996493	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8002042	0.96[ASN][1000 genomes]
rs9318644	0.92[ASN][1000 genomes]
rs9530922	0.88[ASN][1000 genomes]
rs9530925	0.96[ASN][1000 genomes]
rs9565510	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9574429	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9574434	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9593399	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9601240	0.89[ASN][1000 genomes]
rs9601242	0.89[ASN][1000 genomes]
rs987284	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832657	chr13:79904978-80099108	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv523979	chr13:79979679-80120263	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4145207	RBM26	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80054600-80056600	Active TSS	H9 Cell Line	embryonic stem cell
2	chr13:80054600-80056800	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr13:80054600-80056800	Active TSS	A549	lung
4	chr13:80054800-80056600	Active TSS	H1 Cell Line	embryonic stem cell
5	chr13:80054800-80056600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr13:80054800-80056600	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr13:80054800-80056600	Active TSS	Liver	Liver
8	chr13:80054800-80056600	Active TSS	Brain Hippocampus Middle	brain
9	chr13:80054800-80056600	Active TSS	Hela-S3	cervix
10	chr13:80054800-80056600	Active TSS	HSMM	muscle
11	chr13:80054800-80057000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr13:80054800-80057000	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr13:80054800-80057000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr13:80054800-80057000	Active TSS	Right Atrium	heart
15	chr13:80054800-80057000	Active TSS	K562	blood
16	chr13:80054800-80057200	Active TSS	Colonic Mucosa	Colon
17	chr13:80054800-80057200	Active TSS	Rectal Smooth Muscle	rectum
18	chr13:80054800-80057400	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr13:80054800-80057600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr13:80054800-80057800	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr13:80054800-80057800	Active TSS	Fetal Intestine Large	intestine
22	chr13:80054800-80057800	Active TSS	Fetal Intestine Small	intestine
23	chr13:80054800-80058000	Active TSS	Duodenum Mucosa	Duodenum
24	chr13:80054800-80059400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr13:80055000-80056600	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr13:80055000-80056600	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr13:80055000-80056600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr13:80055000-80056600	Active TSS	Placenta	Placenta
29	chr13:80055000-80056600	Active TSS	NHLF	lung
30	chr13:80055000-80056800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr13:80055000-80056800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr13:80055000-80056800	Active TSS	Pancreas	Pancrea
33	chr13:80055000-80056800	Active TSS	NHDF-Ad	bronchial
34	chr13:80055000-80057000	Active TSS	Osteobl	bone
35	chr13:80055000-80057200	Active TSS	HSMMtube	muscle
36	chr13:80055000-80057400	Active TSS	Esophagus	oesophagus
37	chr13:80055000-80057600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr13:80055200-80057200	Active TSS	HMEC	breast
39	chr13:80055200-80057400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr13:80055200-80057400	Active TSS	NHEK	skin
41	chr13:80055400-80056600	Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr13:80055600-80057200	Active TSS	Dnd41	blood
43	chr13:80055800-80056600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr13:80055800-80056600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr13:80055800-80056600	Active TSS	Thymus	Thymus
46	chr13:80055800-80056600	Flanking Active TSS	HUVEC	blood vessel
47	chr13:80055800-80056800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr13:80055800-80056800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr13:80055800-80056800	Flanking Active TSS	Adipose Nuclei	Adipose
50	chr13:80055800-80057200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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