Variant report

Variant	rs7982263
Chromosome Location	chr13:80061074-80061075
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:80053858..80056756-chr13:80060556..80063243,3	MCF-7	breast:
2	chr13:80060446..80062114-chr13:80062702..80064410,2	K562	blood:

Variant related genes	Relation type
ENSG00000232132	Chromatin interaction
ENSG00000102471	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1208049	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1212082	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1335368	0.93[ASN][1000 genomes]
rs1335370	0.95[ASN][1000 genomes]
rs1408049	0.90[ASN][1000 genomes]
rs1414155	0.88[ASN][1000 genomes]
rs1414156	0.88[ASN][1000 genomes]
rs1475797	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1577416	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1577418	0.95[ASN][1000 genomes]
rs2065743	0.90[ASN][1000 genomes]
rs2476172	0.80[ASN][1000 genomes]
rs2476173	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2484343	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2484344	0.81[ASN][1000 genomes]
rs2484345	0.87[AMR][1000 genomes]
rs2760101	0.89[ASN][1000 genomes]
rs2760102	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2760103	0.87[ASN][1000 genomes]
rs2760105	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2760106	0.91[ASN][1000 genomes]
rs2783119	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2783120	0.91[ASN][1000 genomes]
rs2783121	0.89[ASN][1000 genomes]
rs2783122	0.89[ASN][1000 genomes]
rs2783125	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2783126	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs314687	0.83[ASN][1000 genomes]
rs314688	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs386603	0.85[ASN][1000 genomes]
rs4145207	0.95[ASN][1000 genomes]
rs4476060	0.86[ASN][1000 genomes]
rs4885633	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4885634	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4885636	0.93[ASN][1000 genomes]
rs6563110	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6563113	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6563115	0.91[ASN][1000 genomes]
rs6563116	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs700396	0.87[ASN][1000 genomes]
rs7321953	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73235963	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7325095	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7338530	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7339303	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7988601	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7990344	0.95[ASN][1000 genomes]
rs7996493	0.93[ASN][1000 genomes]
rs8002042	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9318644	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9530922	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9530925	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9545142	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9565510	0.91[ASN][1000 genomes]
rs9574429	0.86[ASN][1000 genomes]
rs9574434	0.91[ASN][1000 genomes]
rs9593399	0.86[ASN][1000 genomes]
rs9601240	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9601242	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs987284	0.88[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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7982263	RP11-25J23.3	cis	Thyroid	GTEx
rs7982263	RP11-25J23.3	cis	lung	GTEx
rs7982263	RBM26	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80056200-80063200	Weak transcription	Left Ventricle	heart
2	chr13:80056200-80066400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr13:80056200-80066600	Weak transcription	Psoas Muscle	Psoas
4	chr13:80056200-80077400	Weak transcription	Right Ventricle	heart
5	chr13:80056600-80064200	Weak transcription	Placenta	Placenta
6	chr13:80056800-80061200	Enhancers	Fetal Heart	heart
7	chr13:80056800-80064000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr13:80056800-80064400	Weak transcription	Fetal Stomach	stomach
9	chr13:80056800-80065800	Weak transcription	Fetal Muscle Leg	muscle
10	chr13:80057000-80063600	Weak transcription	Right Atrium	heart
11	chr13:80057000-80066200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr13:80057400-80063400	Weak transcription	GM12878-XiMat	blood
13	chr13:80057400-80064600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr13:80057600-80065400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr13:80057600-80065600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr13:80057800-80064600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr13:80057800-80064600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr13:80058000-80065400	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr13:80058400-80061400	Enhancers	Stomach Mucosa	stomach
20	chr13:80058400-80062600	Enhancers	Fetal Intestine Small	intestine
21	chr13:80058600-80061200	Enhancers	NHDF-Ad	bronchial
22	chr13:80058600-80065800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr13:80059000-80077200	Weak transcription	Small Intestine	intestine
24	chr13:80059400-80061600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr13:80059400-80062200	Enhancers	Liver	Liver
26	chr13:80059400-80064800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr13:80059400-80066400	Weak transcription	Fetal Thymus	thymus
28	chr13:80059600-80061600	Enhancers	Fetal Intestine Large	intestine
29	chr13:80059600-80063200	Weak transcription	Brain Hippocampus Middle	brain
30	chr13:80059600-80063200	Weak transcription	Pancreas	Pancrea
31	chr13:80059600-80064200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr13:80059600-80064200	Weak transcription	Esophagus	oesophagus
33	chr13:80059600-80064200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr13:80059600-80064600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr13:80059600-80064600	Weak transcription	Colon Smooth Muscle	Colon
36	chr13:80059600-80066200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr13:80059600-80066600	Weak transcription	Brain Angular Gyrus	brain
38	chr13:80059600-80068800	Weak transcription	Brain Substantia Nigra	brain
39	chr13:80059800-80062200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr13:80059800-80062600	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr13:80059800-80063000	Weak transcription	K562	blood
42	chr13:80059800-80064200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr13:80059800-80064400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr13:80059800-80064400	Weak transcription	Fetal Lung	lung
45	chr13:80059800-80065400	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr13:80059800-80065800	Weak transcription	Brain Anterior Caudate	brain
47	chr13:80060000-80061200	Enhancers	HMEC	breast
48	chr13:80060000-80063400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr13:80060000-80063600	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr13:80060000-80065400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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