Variant report

Variant	rs13062723
Chromosome Location	chr3:48476431-48476432
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:48340975..48343990-chr3:48471746..48476834,5	MCF-7	breast:
2	chr3:48447490..48450018-chr3:48475182..48476793,2	MCF-7	breast:
3	chr3:48340105..48343012-chr3:48473949..48477283,3	MCF-7	breast:
4	chr3:48469238..48470766-chr3:48475328..48477578,2	K562	blood:
5	chr3:48458543..48460815-chr3:48474825..48476794,2	MCF-7	breast:
6	chr3:48308151..48311606-chr3:48472406..48476834,4	MCF-7	breast:
7	chr3:48313852..48317014-chr3:48476122..48479164,3	MCF-7	breast:
8	chr3:48329023..48331868-chr3:48475047..48477208,2	K562	blood:
9	chr3:48319935..48322606-chr3:48475252..48477536,2	MCF-7	breast:
10	chr3:48474379..48479585-chr3:48479599..48482990,10	MCF-7	breast:
11	chr3:48445049..48447586-chr3:48475534..48477222,2	K562	blood:
12	chr3:48475007..48478316-chr3:48592924..48596066,3	K562	blood:
13	chr3:48442075..48446343-chr3:48473380..48477493,6	MCF-7	breast:
14	chr3:48235558..48238458-chr3:48475233..48477645,2	K562	blood:
15	chr3:48456841..48458345-chr3:48475949..48477815,2	MCF-7	breast:
16	chr3:48445745..48447570-chr3:48476215..48478631,2	K562	blood:
17	chr3:48276638..48279582-chr3:48474716..48476873,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000114268	Chromatin interaction
ENSG00000164050	Chromatin interaction
ENSG00000164051	Chromatin interaction
ENSG00000172113	Chromatin interaction
ENSG00000265483	Chromatin interaction
ENSG00000199476	Chromatin interaction
ENSG00000232112	Chromatin interaction

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

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

rs_ID	r²[population]
rs4858818	1.00[AMR][1000 genomes]
rs6793732	1.00[AMR][1000 genomes]
rs73831577	1.00[AMR][1000 genomes]
rs9852211	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834683	chr3:48301504-48493261	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	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
3	nsv590242	chr3:48433635-48556339	Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
4	nsv876761	chr3:48464968-48496758	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48471800-48477800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:48471800-48480800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr3:48472000-48476800	Enhancers	Stomach Mucosa	stomach
4	chr3:48472000-48477200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr3:48472000-48477200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr3:48472000-48477400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr3:48472000-48477600	Weak transcription	HUVEC	blood vessel
8	chr3:48472000-48480600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr3:48472000-48481000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr3:48472200-48476600	Strong transcription	Fetal Stomach	stomach
11	chr3:48472200-48477000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr3:48472200-48477600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr3:48472200-48477600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr3:48472200-48478600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr3:48472400-48477000	Weak transcription	Brain Substantia Nigra	brain
16	chr3:48472400-48480200	Weak transcription	Right Atrium	heart
17	chr3:48472400-48480800	Weak transcription	Fetal Brain Male	brain
18	chr3:48472600-48476600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:48472600-48476800	Strong transcription	Primary T cells from cord blood	blood
20	chr3:48472800-48476600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr3:48472800-48476800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr3:48473000-48476600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr3:48473200-48476600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr3:48474400-48477600	Enhancers	Placenta Amnion	Placenta Amnion
25	chr3:48474400-48478000	Enhancers	Placenta	Placenta
26	chr3:48474400-48480400	Weak transcription	A549	lung
27	chr3:48474800-48477400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr3:48474800-48477400	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr3:48475000-48476600	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr3:48475000-48481000	Weak transcription	Brain Angular Gyrus	brain
31	chr3:48475200-48481200	Weak transcription	Left Ventricle	heart
32	chr3:48475400-48476800	Genic enhancers	Fetal Intestine Small	intestine
33	chr3:48475400-48477600	Enhancers	Fetal Intestine Large	intestine
34	chr3:48475400-48478000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr3:48475400-48478000	Enhancers	HMEC	breast
36	chr3:48475400-48478200	Enhancers	HepG2	liver
37	chr3:48475400-48480800	Weak transcription	Brain Anterior Caudate	brain
38	chr3:48475400-48481000	Weak transcription	Brain Germinal Matrix	brain
39	chr3:48475600-48477000	Enhancers	Colonic Mucosa	Colon
40	chr3:48475600-48477200	Weak transcription	Primary B cells from peripheral blood	blood
41	chr3:48475600-48477200	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr3:48475600-48477200	Weak transcription	Brain Hippocampus Middle	brain
43	chr3:48475800-48476600	Genic enhancers	Lung	lung
44	chr3:48475800-48476600	Genic enhancers	NHLF	lung
45	chr3:48475800-48477000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
46	chr3:48475800-48477000	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr3:48475800-48477200	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr3:48475800-48477400	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr3:48475800-48477400	Enhancers	Esophagus	oesophagus
50	chr3:48475800-48477800	Enhancers	Rectal Mucosa Donor 29	rectum

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