Variant report

Variant	rs7631971
Chromosome Location	chr3:48592552-48592553
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:48592377-48593032	U87	brain:	n/a	n/a
2	POLR2A	chr3:48590915-48594977	A549	lung:	n/a	n/a
3	POLR2A	chr3:48592103-48592782	HepG2	liver:	n/a	n/a
4	ZNF384	chr3:48592433-48593511	K562	blood:	n/a	n/a
5	TEAD4	chr3:48592508-48593145	K562	blood:	n/a	n/a
6	POLR2A	chr3:48588992-48602017	U87	brain:	n/a	n/a
7	TRIM28	chr3:48592541-48593139	K562	blood:	n/a	n/a
8	MAX	chr3:48592545-48593353	K562	blood:	n/a	n/a
9	CEBPD	chr3:48592550-48593168	K562	blood:	n/a	n/a
10	POLR2A	chr3:48592483-48593038	Hela-S3	cervix:	n/a	n/a
11	NR2F2	chr3:48592550-48593688	K562	blood:	n/a	n/a
12	POLR2A	chr3:48592306-48602182	U87	brain:	n/a	n/a
13	MYC	chr3:48592546-48593100	K562	blood:	n/a	n/a
14	EP300	chr3:48592525-48593389	K562	blood:	n/a	n/a
15	GATA1	chr3:48592503-48593221	PBDE	blood:	n/a	chr3:48592867-48592884
16	POLR2A	chr3:48592423-48593032	U87	brain:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:48540167..48542954-chr3:48592530..48594484,3	MCF-7	breast:
2	chr3:48514328..48516205-chr3:48592157..48594449,2	K562	blood:
3	chr3:48485360..48488247-chr3:48592326..48594026,2	K562	blood:
4	chr3:48484123..48488497-chr3:48591865..48597132,6	K562	blood:
5	chr3:48228556..48231473-chr3:48592024..48594297,2	K562	blood:
6	chr3:48584950..48588174-chr3:48591529..48594760,3	K562	blood:
7	chr3:48481270..48483185-chr3:48591513..48595174,3	MCF-7	breast:
8	chr2:106800399..106802309-chr3:48592258..48594170,2	MCF-7	breast:
9	chr3:48280347..48282561-chr3:48591932..48593845,2	K562	blood:
10	chr3:48591611..48596652-chr3:48640512..48642956,4	MCF-7	breast:

No data

Variant related genes	Relation type
PFKFB4	TF binding region
ENSG00000244380	Chromatin interaction
ENSG00000114268	Chromatin interaction
ENSG00000164054	Chromatin interaction
ENSG00000164051	Chromatin interaction
ENSG00000164053	Chromatin interaction
ENSG00000164045	Chromatin interaction
ENSG00000010256	Chromatin interaction
ENSG00000232112	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs60364389	0.88[AFR][1000 genomes]
rs61685311	0.94[AFR][1000 genomes]
rs61729238	1.00[AMR][1000 genomes]
rs61729240	1.00[AMR][1000 genomes]
rs6776679	1.00[ASW][hapmap]
rs7615003	0.88[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	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
2	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
3	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
4	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
5	nsv876762	chr3:48591481-48731487	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 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	chr3:48573600-48592600	Weak transcription	NHDF-Ad	bronchial
2	chr3:48573600-48593400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr3:48576000-48594000	Weak transcription	Small Intestine	intestine
4	chr3:48578000-48593400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr3:48581000-48593600	Weak transcription	Right Atrium	heart
6	chr3:48581200-48593600	Weak transcription	Right Ventricle	heart
7	chr3:48581200-48593800	Weak transcription	Ovary	ovary
8	chr3:48581400-48592800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr3:48584200-48593800	Weak transcription	Aorta	Aorta
10	chr3:48584800-48593600	Weak transcription	NH-A	brain
11	chr3:48585000-48593400	Weak transcription	HSMM	muscle
12	chr3:48585200-48592600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr3:48585200-48593400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr3:48585200-48593600	Weak transcription	Osteobl	bone
15	chr3:48585400-48592600	Weak transcription	A549	lung
16	chr3:48585800-48593400	Weak transcription	NHLF	lung
17	chr3:48586200-48592600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr3:48586400-48593200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr3:48586400-48593400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr3:48586400-48593400	Enhancers	Pancreas	Pancrea
21	chr3:48586400-48593600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr3:48586600-48592600	Weak transcription	Brain Anterior Caudate	brain
23	chr3:48586600-48592800	Weak transcription	Brain Substantia Nigra	brain
24	chr3:48586600-48593400	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr3:48586600-48593400	Weak transcription	Adipose Nuclei	Adipose
26	chr3:48586600-48593400	Weak transcription	Brain Angular Gyrus	brain
27	chr3:48586600-48593400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr3:48586800-48592600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr3:48586800-48592600	Weak transcription	Brain Hippocampus Middle	brain
30	chr3:48586800-48592600	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr3:48586800-48593200	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr3:48587000-48592600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:48587000-48592800	Weak transcription	Brain Cingulate Gyrus	brain
34	chr3:48587200-48593400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr3:48587400-48593600	Enhancers	Placenta	Placenta
36	chr3:48588000-48593400	Weak transcription	Fetal Stomach	stomach
37	chr3:48588600-48593000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr3:48589200-48593200	Enhancers	Fetal Intestine Large	intestine
39	chr3:48589400-48592800	Transcr. at gene 5' and 3'	HepG2	liver
40	chr3:48589400-48593200	Enhancers	Primary hematopoietic stem cells	blood
41	chr3:48589600-48594000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr3:48589800-48593200	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr3:48590000-48593200	Weak transcription	Fetal Lung	lung
44	chr3:48590000-48593400	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr3:48590000-48593400	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr3:48590000-48593400	Weak transcription	HSMMtube	muscle
47	chr3:48590400-48592600	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr3:48590400-48593400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr3:48590400-48593600	Weak transcription	Stomach Mucosa	stomach
50	chr3:48590600-48592600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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