Variant report

Variant	rs73019054
Chromosome Location	chr1:150485599-150485600
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:150485574-150486326	K562	blood:	n/a	n/a
2	POLR2A	chr1:150485599-150485604	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150458274..150463765-chr1:150483214..150490747,8	K562	blood:
2	chr1:150485086..150486006-chr12:111638247..111639131,2	MCF-7	breast:
3	chr1:150484156..150487563-chr1:150516278..150519964,6	K562	blood:
4	chr1:150484501..150486667-chr1:150486771..150488275,2	K562	blood:
5	chr1:150467926..150469433-chr1:150484005..150485937,2	MCF-7	breast:
6	chr1:150484449..150486670-chr1:150500948..150502943,2	MCF-7	breast:
7	chr1:150482969..150486051-chr1:150520372..150524446,3	K562	blood:

No data

Variant related genes	Relation type
LINC00568	TF binding region
ENSG00000143382	Chromatin interaction
ENSG00000143374	Chromatin interaction
ENSG00000264553	Chromatin interaction
ENSG00000225996	Chromatin interaction
ENSG00000228126	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12129037	0.94[AFR][1000 genomes]
rs13057	0.82[AFR][1000 genomes]
rs2275245	0.84[AFR][1000 genomes]
rs58419446	0.96[AFR][1000 genomes]
rs66464034	0.88[AFR][1000 genomes]
rs66866430	0.87[AFR][1000 genomes]
rs72700806	0.87[AFR][1000 genomes]
rs871527	0.84[AFR][1000 genomes]
rs953127	0.86[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	nsv916014	chr1:150187139-150537483	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
2	nsv1006838	chr1:150440214-150722783	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
3	esv1814231	chr1:150479528-150540117	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	71 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150461000-150486800	Weak transcription	Fetal Heart	heart
2	chr1:150462000-150485800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr1:150471800-150487400	Weak transcription	Fetal Brain Male	brain
4	chr1:150476200-150486200	Strong transcription	Ovary	ovary
5	chr1:150477800-150487400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr1:150478200-150487400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr1:150478800-150487200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr1:150478800-150487400	Weak transcription	Psoas Muscle	Psoas
9	chr1:150478800-150487600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:150479000-150487400	Weak transcription	Fetal Lung	lung
11	chr1:150479000-150487600	Weak transcription	Aorta	Aorta
12	chr1:150479400-150487400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr1:150479400-150487600	Weak transcription	Fetal Kidney	kidney
14	chr1:150479600-150487200	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:150479600-150487200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr1:150479600-150487400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr1:150479600-150487400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr1:150479600-150487400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr1:150479600-150487400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:150479600-150487400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr1:150479600-150487400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr1:150479600-150487400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr1:150479600-150487600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr1:150479800-150485600	Weak transcription	Fetal Thymus	thymus
25	chr1:150479800-150487200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr1:150479800-150487400	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr1:150479800-150487400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr1:150480000-150487200	Weak transcription	Primary B cells from cord blood	blood
29	chr1:150480000-150487200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:150480200-150487200	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr1:150480400-150487400	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr1:150480600-150487200	Weak transcription	Fetal Intestine Large	intestine
33	chr1:150480600-150487400	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr1:150480800-150487400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:150480800-150487400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:150480800-150487400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr1:150480800-150487400	Weak transcription	Dnd41	blood
38	chr1:150481000-150485800	Weak transcription	HMEC	breast
39	chr1:150481000-150486200	Weak transcription	HepG2	liver
40	chr1:150481000-150487200	Weak transcription	Thymus	Thymus
41	chr1:150481000-150487400	Weak transcription	A549	lung
42	chr1:150481000-150487400	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr1:150481200-150486200	Strong transcription	Fetal Intestine Small	intestine
44	chr1:150481200-150487200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr1:150481600-150485600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr1:150481600-150487400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr1:150481800-150486400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:150481800-150486800	Weak transcription	Colonic Mucosa	Colon
49	chr1:150481800-150487200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:150481800-150487200	Weak transcription	Rectal Smooth Muscle	rectum

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