Variant report

Variant	rs73351821
Chromosome Location	chr5:178052755-178052756
allele	A/C
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	MYC	chr5:178052572-178054553	K562	blood:	n/a	chr5:178054227-178054237 chr5:178054223-178054233 chr5:178054544-178054553 chr5:178054333-178054340
2	STAT3	chr5:178052636-178052919	MCF10A-Er-Src	breast:	n/a	n/a
3	MYC	chr5:178051369-178053564	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr5:178052453-178054216	K562	blood:	n/a	n/a
5	TEAD4	chr5:178052664-178054262	K562	blood:	n/a	n/a
6	TBP	chr5:178052641-178054228	GM12878	blood:	n/a	n/a
7	POLR2A	chr5:178052458-178054533	GM12878	blood:	n/a	n/a
8	MYC	chr5:178052573-178054577	MCF10A-Er-Src	breast:	n/a	chr5:178054227-178054237 chr5:178054223-178054233 chr5:178054543-178054554 chr5:178054544-178054553 chr5:178054543-178054554 chr5:178054333-178054340
9	UBTF	chr5:178052753-178054264	K562	blood:	n/a	n/a
10	POLR2A	chr5:178052335-178054585	GM18505	blood:	n/a	n/a
11	POLR2A	chr5:178051355-178054657	HepG2	liver:	n/a	n/a
12	POLR2A	chr5:178052628-178054182	HepG2	liver:	n/a	n/a
13	MAZ	chr5:178051632-178054946	IMR90	lung:	n/a	chr5:178054227-178054237 chr5:178054223-178054233 chr5:178054543-178054554 chr5:178054544-178054553 chr5:178054543-178054554 chr5:178054333-178054340
14	GATA1	chr5:178052655-178054102	PBDE	blood:	n/a	n/a
15	SIN3A	chr5:178052606-178054564	H1-hESC	embryonic stem cell:	n/a	chr5:178054193-178054204
16	ZMIZ1	chr5:178052754-178054151	K562	blood:	n/a	n/a
17	ARID3A	chr5:178052503-178054060	HepG2	liver:	n/a	n/a
18	SIN3A	chr5:178052671-178054176	GM12878	blood:	n/a	n/a
19	EBF1	chr5:178052661-178054571	GM12878	blood:	n/a	n/a
20	IRF1	chr5:178052060-178054215	K562	blood:	n/a	chr5:178052640-178052654
21	MYC	chr5:178052021-178052974	K562	blood:	n/a	n/a
22	MYC	chr5:178052672-178054548	NB4	blood:	n/a	chr5:178054227-178054237 chr5:178054223-178054233 chr5:178054333-178054340
23	E2F4	chr5:178052659-178053258	MCF10A-Er-Src	breast:	n/a	n/a
24	CHD1	chr5:178052674-178054612	GM12878	blood:	n/a	n/a
25	MAFK	chr5:178052557-178054290	Hela-S3	cervix:	n/a	n/a
26	MAZ	chr5:178052639-178054852	GM12878	blood:	n/a	chr5:178054227-178054237 chr5:178054223-178054233 chr5:178054543-178054554 chr5:178054544-178054553 chr5:178054543-178054554 chr5:178054333-178054340
27	WRNIP1	chr5:178051879-178054065	GM12878	blood:	n/a	n/a
28	EP300	chr5:178052564-178054205	K562	blood:	n/a	chr5:178054184-178054200 chr5:178053008-178053015
29	MXI1	chr5:178052477-178054611	GM12878	blood:	n/a	chr5:178054156-178054165
30	ARID3A	chr5:178051872-178052821	K562	blood:	n/a	n/a
31	MAFK	chr5:178052466-178053351	K562	blood:	n/a	n/a
32	POLR2A	chr5:178052729-178054268	GM12878	blood:	n/a	n/a
33	POLR2A	chr5:178052593-178054672	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr5:178052425-178054844	GM12891	blood:	n/a	n/a
35	POLR2A	chr5:178051334-178054847	MCF10A-Er-Src	breast:	n/a	n/a
36	REST	chr5:178052754-178054756	H1-neurons	neurons:	n/a	chr5:178053678-178053691
37	POLR2A	chr5:178052477-178054218	PBDE	blood:	n/a	n/a
38	TBL1XR1	chr5:178052665-178054212	K562	blood:	n/a	n/a
39	RCOR1	chr5:178052641-178054825	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:178029668..178031491-chr5:178050533..178053383,2	K562	blood:
2	chr5:177631376..177633067-chr5:178051942..178054079,2	K562	blood:
3	chr5:178017082..178020481-chr5:178051764..178053531,4	MCF-7	breast:
4	chr5:178019997..178022007-chr5:178050984..178053956,2	MCF-7	breast:
5	chr5:178051446..178054153-chr5:178157357..178158910,2	MCF-7	breast:
6	chr5:178050940..178053910-chr5:178263858..178266243,2	MCF-7	breast:
7	chr5:177650184..177652351-chr5:178050731..178052958,2	K562	blood:
8	chr5:177659087..177660769-chr5:178052015..178054177,2	K562	blood:
9	chr5:177658823..177661184-chr5:178051492..178053265,2	MCF-7	breast:
10	chr5:177631162..177632942-chr5:178051796..178054079,4	K562	blood:

Variant related genes	Relation type
CLK4	TF binding region
ENSG00000050767	Chromatin interaction
ENSG00000175309	Chromatin interaction
ENSG00000197451	Chromatin interaction
ENSG00000169131	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs60822440	0.83[AFR][1000 genomes]
rs73348406	0.83[AFR][1000 genomes]
rs73350301	0.83[AFR][1000 genomes]
rs73351824	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948342	chr5:177384542-178168737	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
2	nsv1029398	chr5:177502106-178070654	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	136 gene(s)	inside rSNPs	diseases
3	nsv1031666	chr5:177988601-178236068	Bivalent/Poised TSS Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178031800-178052800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:178051000-178053000	Flanking Active TSS	Stomach Smooth Muscle	stomach
3	chr5:178051000-178053200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
4	chr5:178051000-178053400	Flanking Active TSS	Primary T cells from cord blood	blood
5	chr5:178051000-178053400	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr5:178051000-178054400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:178051000-178054600	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr5:178051200-178053000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr5:178051200-178053400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr5:178051200-178053400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:178051200-178053400	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr5:178051200-178054600	Active TSS	Aorta	Aorta
13	chr5:178051400-178052800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr5:178051400-178052800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr5:178051400-178052800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
16	chr5:178051400-178052800	Flanking Active TSS	Hela-S3	cervix
17	chr5:178051400-178053000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
18	chr5:178051400-178053000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr5:178051400-178053000	Flanking Active TSS	Brain Hippocampus Middle	brain
20	chr5:178051400-178053200	Flanking Active TSS	Liver	Liver
21	chr5:178051400-178053200	Flanking Active TSS	Brain Cingulate Gyrus	brain
22	chr5:178051400-178054400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr5:178051600-178053000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
24	chr5:178051600-178053200	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr5:178051600-178054400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr5:178051600-178054600	Active TSS	NHDF-Ad	bronchial
27	chr5:178051600-178054600	Active TSS	NHLF	lung
28	chr5:178051800-178053200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr5:178051800-178054600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr5:178051800-178054600	Active TSS	HSMM	muscle
31	chr5:178051800-178054800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:178052000-178052800	Flanking Active TSS	Primary B cells from peripheral blood	blood
33	chr5:178052000-178054200	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr5:178052000-178054200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
35	chr5:178052000-178054400	Active TSS	Fetal Intestine Large	intestine
36	chr5:178052000-178054400	Active TSS	Lung	lung
37	chr5:178052000-178054600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr5:178052000-178054600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr5:178052000-178054600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr5:178052000-178054600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr5:178052000-178054600	Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr5:178052000-178054800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr5:178052000-178054800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr5:178052000-178054800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr5:178052200-178052800	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr5:178052200-178053000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
47	chr5:178052200-178053000	Active TSS	Brain Germinal Matrix	brain
48	chr5:178052200-178053400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr5:178052200-178054000	Bivalent/Poised TSS	HepG2	liver
50	chr5:178052200-178054400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links