Variant report

Variant	rs61685311
Chromosome Location	chr3:48588145-48588146
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:48587898-48588611	U87	brain:	n/a	n/a
2	POLR2A	chr3:48585070-48588765	U87	brain:	n/a	n/a
3	POLR2A	chr3:48587928-48588611	U87	brain:	n/a	n/a
4	POLR2A	chr3:48585702-48588765	U87	brain:	n/a	n/a
5	POLR2A	chr3:48586095-48588656	A549	lung:	n/a	n/a
6	POLR2A	chr3:48587934-48588165	HepG2	liver:	n/a	n/a
7	POLR2A	chr3:48587447-48588617	Hela-S3	cervix:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:48505336..48507903-chr3:48585483..48588642,3	MCF-7	breast:
2	chr3:48584950..48588174-chr3:48591529..48594760,3	K562	blood:
3	chr3:48228246..48230030-chr3:48588127..48590527,2	MCF-7	breast:
4	chr3:48506855..48508607-chr3:48585951..48588307,2	K562	blood:

No data

Variant related genes	Relation type
PFKFB4	TF binding region
ENSG00000164045	Chromatin interaction
ENSG00000114268	Chromatin interaction
ENSG00000213689	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs60364389	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7615003	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7631971	0.94[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834684	chr3:48385699-48589323	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv1008232	chr3:48517121-48702416	Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv523981	chr3:48520289-48721040	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv1004383	chr3:48543794-48649772	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv834685	chr3:48565009-48745774	Strong transcription Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48547600-48591600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr3:48562600-48592000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr3:48570600-48591600	Weak transcription	Fetal Brain Male	brain
4	chr3:48573600-48589600	Weak transcription	Fetal Lung	lung
5	chr3:48573600-48592600	Weak transcription	NHDF-Ad	bronchial
6	chr3:48573600-48593400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr3:48574400-48591400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr3:48574800-48591200	Weak transcription	Dnd41	blood
9	chr3:48576000-48594000	Weak transcription	Small Intestine	intestine
10	chr3:48576400-48590200	Weak transcription	Colonic Mucosa	Colon
11	chr3:48576400-48591800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr3:48577600-48589600	Weak transcription	Gastric	stomach
13	chr3:48577600-48591600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr3:48578000-48593400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr3:48581000-48591000	Weak transcription	Lung	lung
16	chr3:48581000-48593600	Weak transcription	Right Atrium	heart
17	chr3:48581200-48589400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr3:48581200-48593600	Weak transcription	Right Ventricle	heart
19	chr3:48581200-48593800	Weak transcription	Ovary	ovary
20	chr3:48581400-48589600	Weak transcription	HSMMtube	muscle
21	chr3:48581400-48591600	Weak transcription	Hela-S3	cervix
22	chr3:48581400-48592800	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr3:48582600-48591800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr3:48583400-48588400	Strong transcription	Fetal Brain Female	brain
25	chr3:48583400-48589200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr3:48583400-48590200	Strong transcription	GM12878-XiMat	blood
27	chr3:48583600-48591800	Strong transcription	NHEK	skin
28	chr3:48583800-48591600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr3:48584000-48590400	Weak transcription	Esophagus	oesophagus
30	chr3:48584200-48593800	Weak transcription	Aorta	Aorta
31	chr3:48584800-48589400	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr3:48584800-48593600	Weak transcription	NH-A	brain
33	chr3:48585000-48589400	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr3:48585000-48589600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr3:48585000-48591800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr3:48585000-48593400	Weak transcription	HSMM	muscle
37	chr3:48585200-48592600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr3:48585200-48593400	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr3:48585200-48593600	Weak transcription	Osteobl	bone
40	chr3:48585400-48592600	Weak transcription	A549	lung
41	chr3:48585600-48590400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr3:48585800-48589400	Weak transcription	Primary hematopoietic stem cells	blood
43	chr3:48585800-48589600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr3:48585800-48591600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr3:48585800-48593400	Weak transcription	NHLF	lung
46	chr3:48586000-48588600	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr3:48586000-48588800	Genic enhancers	Primary neutrophils fromperipheralblood	blood
48	chr3:48586000-48591600	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr3:48586200-48589400	Weak transcription	Rectal Smooth Muscle	rectum
50	chr3:48586200-48591000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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