Variant report

Variant	rs73941104
Chromosome Location	chr19:45555925-45555926
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	chr19:45555096-45556201	GM12878	blood:	n/a	n/a
2	EBF1	chr19:45555488-45556001	GM12878	blood:	n/a	chr19:45555809-45555820 chr19:45555810-45555820
3	POLR2A	chr19:45555887-45556230	HepG2	liver:	n/a	n/a
4	EBF1	chr19:45555586-45555969	GM12878	blood:	n/a	chr19:45555809-45555820 chr19:45555810-45555820
5	POLR2A	chr19:45555378-45555973	GM12878	blood:	n/a	n/a
6	POLR2A	chr19:45555873-45556043	K562	blood:	n/a	n/a
7	POLR2A	chr19:45555624-45556147	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:45553390..45556020-chr19:45556766..45558274,2	K562	blood:
2	chr19:45510457..45513219-chr19:45554185..45556055,2	K562	blood:

Variant related genes	Relation type
CLASRP	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs16979659	1.00[AMR][1000 genomes]
rs16979703	1.00[AMR][1000 genomes]
rs34858267	0.81[AFR][1000 genomes]
rs35527954	0.81[AFR][1000 genomes]
rs56213215	1.00[AMR][1000 genomes]
rs56405239	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57454146	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58584483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60509946	1.00[AMR][1000 genomes]
rs60530130	1.00[AMR][1000 genomes]
rs73939603	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73939647	1.00[AMR][1000 genomes]
rs73939649	1.00[AMR][1000 genomes]
rs73941103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3449420	chr19:45523560-45626884	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45542800-45571200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:45544200-45573400	Weak transcription	Fetal Brain Male	brain
3	chr19:45545400-45557800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr19:45545600-45563000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr19:45548400-45557000	Weak transcription	Fetal Kidney	kidney
6	chr19:45549000-45556400	Weak transcription	NH-A	brain
7	chr19:45549000-45557800	Weak transcription	HUVEC	blood vessel
8	chr19:45549200-45557200	Weak transcription	HSMMtube	muscle
9	chr19:45549800-45559200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr19:45550000-45556000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr19:45550000-45558200	Weak transcription	Small Intestine	intestine
12	chr19:45550800-45560600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr19:45551000-45556400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr19:45551000-45556400	Weak transcription	Hela-S3	cervix
15	chr19:45551200-45557800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr19:45552200-45574800	Strong transcription	Dnd41	blood
17	chr19:45552400-45575800	Strong transcription	Lung	lung
18	chr19:45552400-45576000	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr19:45552400-45577400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr19:45552600-45576200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr19:45552600-45577200	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr19:45552800-45576000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr19:45553000-45562600	Strong transcription	A549	lung
24	chr19:45553000-45575400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr19:45553000-45576000	Strong transcription	Brain Germinal Matrix	brain
26	chr19:45553200-45560000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr19:45553400-45575800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr19:45553400-45578800	Weak transcription	Right Atrium	heart
29	chr19:45553600-45556400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr19:45553600-45557200	Weak transcription	HSMM	muscle
31	chr19:45553600-45558000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr19:45553600-45562000	Weak transcription	Psoas Muscle	Psoas
33	chr19:45553600-45562800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr19:45553600-45575600	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr19:45553600-45576000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr19:45553600-45576000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr19:45554000-45556600	Genic enhancers	Fetal Intestine Large	intestine
38	chr19:45554000-45576000	Strong transcription	Fetal Thymus	thymus
39	chr19:45554200-45570000	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr19:45554200-45570600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr19:45554200-45575200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr19:45554200-45576000	Strong transcription	Thymus	Thymus
43	chr19:45554400-45556400	Genic enhancers	Fetal Intestine Small	intestine
44	chr19:45554400-45559200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr19:45554600-45576000	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr19:45554600-45577000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr19:45554800-45556000	Genic enhancers	Colonic Mucosa	Colon
48	chr19:45554800-45556200	Genic enhancers	Stomach Smooth Muscle	stomach
49	chr19:45554800-45556400	Genic enhancers	Rectal Mucosa Donor 29	rectum
50	chr19:45555000-45562600	Strong transcription	Primary T cells fromperipheralblood	blood

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