Variant report

Variant	rs73551533
Chromosome Location	chr13:80058789-80058790
allele	A/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	chr13:80058401-80060319	MCF10A-Er-Src	breast:	n/a	n/a
2	MYC	chr13:80058597-80059952	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr13:80058362-80061635	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:80054400..80056939-chr13:80057406..80059171,2	MCF-7	breast:
2	chr13:80057193..80059999-chr13:80114272..80116741,2	K562	blood:
3	chr13:80056153..80058862-chr13:80062367..80066425,4	K562	blood:

Variant related genes	Relation type
NDFIP2-AS1	TF binding region
ENSG00000102471	Chromatin interaction
ENSG00000232132	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs17071613	0.85[AFR][1000 genomes]
rs56737007	0.96[AFR][1000 genomes]
rs57066341	0.87[AFR][1000 genomes]
rs59105864	0.87[AFR][1000 genomes]
rs60240323	0.87[AFR][1000 genomes]
rs73548917	0.91[AFR][1000 genomes]
rs73548923	0.91[AFR][1000 genomes]
rs73548924	0.91[AFR][1000 genomes]
rs73548926	0.91[AFR][1000 genomes]
rs73548938	0.91[AFR][1000 genomes]
rs73548941	0.91[AFR][1000 genomes]
rs73548942	0.94[AFR][1000 genomes]
rs73549001	0.96[AFR][1000 genomes]
rs73551505	0.96[AFR][1000 genomes]
rs73551522	0.96[AFR][1000 genomes]
rs73551530	0.80[AFR][1000 genomes]
rs73551551	0.89[AFR][1000 genomes]
rs73551578	0.87[AFR][1000 genomes]
rs73551581	0.89[AFR][1000 genomes]
rs73551589	0.87[AFR][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

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80054800-80059400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr13:80056000-80058800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr13:80056200-80058800	Weak transcription	Small Intestine	intestine
4	chr13:80056200-80059200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr13:80056200-80060600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr13:80056200-80060800	Weak transcription	Gastric	stomach
7	chr13:80056200-80063200	Weak transcription	Left Ventricle	heart
8	chr13:80056200-80066400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr13:80056200-80066600	Weak transcription	Psoas Muscle	Psoas
10	chr13:80056200-80077400	Weak transcription	Right Ventricle	heart
11	chr13:80056600-80064200	Weak transcription	Placenta	Placenta
12	chr13:80056800-80058800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr13:80056800-80059200	Weak transcription	Pancreas	Pancrea
14	chr13:80056800-80059600	Enhancers	Brain Hippocampus Middle	brain
15	chr13:80056800-80059600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr13:80056800-80061200	Enhancers	Fetal Heart	heart
17	chr13:80056800-80064000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr13:80056800-80064400	Weak transcription	Fetal Stomach	stomach
19	chr13:80056800-80065800	Weak transcription	Fetal Muscle Leg	muscle
20	chr13:80057000-80058800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr13:80057000-80058800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr13:80057000-80058800	Enhancers	Liver	Liver
23	chr13:80057000-80059000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr13:80057000-80059200	Enhancers	HepG2	liver
25	chr13:80057000-80063600	Weak transcription	Right Atrium	heart
26	chr13:80057000-80066200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr13:80057200-80059200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr13:80057200-80060600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr13:80057400-80058800	Weak transcription	Adipose Nuclei	Adipose
30	chr13:80057400-80059000	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr13:80057400-80059200	Weak transcription	Esophagus	oesophagus
32	chr13:80057400-80060800	Enhancers	HSMM	muscle
33	chr13:80057400-80063400	Weak transcription	GM12878-XiMat	blood
34	chr13:80057400-80064600	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr13:80057600-80059000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr13:80057600-80059200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr13:80057600-80059200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr13:80057600-80059200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr13:80057600-80059200	Weak transcription	Colon Smooth Muscle	Colon
40	chr13:80057600-80059200	Weak transcription	Fetal Lung	lung
41	chr13:80057600-80060000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr13:80057600-80061000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr13:80057600-80065400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr13:80057600-80065600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr13:80057800-80058800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr13:80057800-80058800	Weak transcription	Fetal Kidney	kidney
47	chr13:80057800-80058800	Enhancers	Hela-S3	cervix
48	chr13:80057800-80059000	Weak transcription	Brain Substantia Nigra	brain
49	chr13:80057800-80059200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr13:80057800-80059200	Weak transcription	Brain Angular Gyrus	brain

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