Variant report

Variant	rs73560254
Chromosome Location	chr19:45522717-45522718
allele	A/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	POLR2A	chr19:45522128-45522757	GM12891	blood:	n/a	n/a
2	POLR2A	chr19:45522108-45522830	GM12878	blood:	n/a	n/a
3	POLR2A	chr19:45522146-45522752	GM12892	blood:	n/a	n/a
4	JUND	chr19:45522504-45522802	HepG2	liver:	n/a	chr19:45522637-45522648
5	POLR2A	chr19:45522051-45522825	GM12878	blood:	n/a	n/a
6	POLR2A	chr19:45522056-45522782	GM12891	blood:	n/a	n/a
7	POLR2A	chr19:45522071-45522849	GM12892	blood:	n/a	n/a
8	FOS	chr19:45522486-45522828	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr19:45522542-45522790	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr19:45522495-45522859	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:45503613..45506026-chr19:45520892..45522865,2	K562	blood:

Variant related genes	Relation type
RELB	TF binding region
ENSG00000104856	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs58038045	1.00[AMR][1000 genomes]
rs58260098	1.00[AMR][1000 genomes]
rs58660494	1.00[AMR][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	nsv912134	chr19:45395619-45528799	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	esv3371318	chr19:45508161-45536776	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45505200-45528600	Weak transcription	Gastric	stomach
2	chr19:45505200-45531800	Weak transcription	Small Intestine	intestine
3	chr19:45505200-45534000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr19:45505200-45541800	Weak transcription	NHLF	lung
5	chr19:45505400-45542000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr19:45505800-45523000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr19:45505800-45531800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr19:45506000-45532000	Weak transcription	NH-A	brain
9	chr19:45506000-45532200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr19:45506000-45532200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr19:45506000-45535800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr19:45506000-45535800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr19:45506000-45535800	Weak transcription	HMEC	breast
14	chr19:45506000-45537800	Weak transcription	HSMM	muscle
15	chr19:45506000-45541800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr19:45506000-45541800	Weak transcription	Psoas Muscle	Psoas
17	chr19:45506200-45524000	Weak transcription	Esophagus	oesophagus
18	chr19:45506200-45530600	Weak transcription	Ovary	ovary
19	chr19:45506200-45532000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr19:45506200-45533800	Weak transcription	Brain Substantia Nigra	brain
21	chr19:45506200-45534200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr19:45506200-45536000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr19:45506200-45538800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr19:45506200-45541200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr19:45506200-45541800	Weak transcription	NHDF-Ad	bronchial
26	chr19:45506400-45525200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr19:45506400-45528600	Weak transcription	Primary hematopoietic stem cells	blood
28	chr19:45506400-45532200	Weak transcription	Thymus	Thymus
29	chr19:45506400-45532400	Weak transcription	Right Ventricle	heart
30	chr19:45507400-45525200	Weak transcription	Fetal Thymus	thymus
31	chr19:45511000-45534000	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr19:45512200-45525200	Weak transcription	HSMMtube	muscle
33	chr19:45512200-45530800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr19:45512400-45525200	Weak transcription	Colonic Mucosa	Colon
35	chr19:45512800-45531800	Weak transcription	NHEK	skin
36	chr19:45512800-45541400	Weak transcription	Stomach Mucosa	stomach
37	chr19:45513200-45523200	Weak transcription	Fetal Intestine Large	intestine
38	chr19:45513400-45525200	Weak transcription	Left Ventricle	heart
39	chr19:45514000-45532000	Weak transcription	Brain Anterior Caudate	brain
40	chr19:45515400-45542000	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr19:45515600-45531400	Weak transcription	Pancreas	Pancrea
42	chr19:45515800-45525000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr19:45517000-45525000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr19:45517000-45532200	Weak transcription	Aorta	Aorta
45	chr19:45517200-45530600	Weak transcription	Rectal Smooth Muscle	rectum
46	chr19:45517400-45528400	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr19:45517400-45528400	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr19:45517400-45530600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr19:45517400-45532000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr19:45517400-45532200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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