Variant report

Variant	rs4839248
Chromosome Location	chr1:113044244-113044245
allele	A/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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:113043664..113046316-chr1:113246773..113250102,3	K562	blood:
2	chr1:113042799..113045206-chr1:113056989..113060717,3	MCF-7	breast:
3	chr1:113044125..113045114-chr1:113156151..113157755,13	MCF-7	breast:
4	chr1:113038165..113040029-chr1:113043903..113046113,2	MCF-7	breast:
5	chr1:113043596..113046525-chr1:113046998..113048803,2	K562	blood:
6	chr1:113042549..113044879-chr1:113047286..113049813,2	MCF-7	breast:
7	chr1:113044160..113045084-chr1:113249254..113250612,4	K562	blood:
8	chr1:113044204..113044716-chr1:113249848..113250491,2	MCF-7	breast:
9	chr1:113041409..113044324-chr1:113246115..113248813,2	MCF-7	breast:
10	chr1:113043050..113044804-chr1:113159767..113162652,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000007341	Chromatin interaction
ENSG00000116489	Chromatin interaction
ENSG00000134245	Chromatin interaction
ENSG00000155366	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11102489	0.87[EUR][1000 genomes]
rs17030459	0.87[EUR][1000 genomes]
rs59063619	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs74111163	0.87[AFR][1000 genomes];0.83[EUR][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	esv13370	chr1:112693290-113246263	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers 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	166 gene(s)	inside rSNPs	diseases
3	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
4	nsv831081	chr1:112934920-113122640	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv1008375	chr1:113028271-113060221	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113040000-113044400	Weak transcription	Aorta	Aorta
2	chr1:113041800-113044400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:113043800-113044400	Bivalent Enhancer	Fetal Intestine Large	intestine
4	chr1:113043800-113045400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
5	chr1:113044000-113044400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr1:113044000-113044400	Bivalent Enhancer	Liver	Liver
7	chr1:113044000-113044400	Bivalent Enhancer	Fetal Intestine Small	intestine
8	chr1:113044000-113044400	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr1:113044000-113044400	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr1:113044000-113044400	Enhancers	A549	lung
11	chr1:113044000-113044400	Bivalent Enhancer	HepG2	liver
12	chr1:113044000-113044800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
13	chr1:113044200-113044400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
14	chr1:113044200-113044400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:113044200-113044400	Bivalent Enhancer	Primary B cells from cord blood	blood
16	chr1:113044200-113044400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
17	chr1:113044200-113044400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
18	chr1:113044200-113044400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
19	chr1:113044200-113044400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
20	chr1:113044200-113044400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
21	chr1:113044200-113044400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
22	chr1:113044200-113044400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
23	chr1:113044200-113044400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
24	chr1:113044200-113044400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:113044200-113044400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:113044200-113044400	Enhancers	Muscle Satellite Cultured Cells	--
27	chr1:113044200-113044400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:113044200-113044400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:113044200-113044400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:113044200-113044400	Enhancers	Colon Smooth Muscle	Colon
31	chr1:113044200-113044400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
32	chr1:113044200-113044400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr1:113044200-113044400	Bivalent Enhancer	Fetal Muscle Leg	muscle
34	chr1:113044200-113044400	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr1:113044200-113044400	Active TSS	Right Atrium	heart
36	chr1:113044200-113044400	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr1:113044200-113044400	Bivalent Enhancer	GM12878-XiMat	blood
38	chr1:113044200-113044400	Enhancers	HSMMtube	muscle
39	chr1:113044200-113044400	Bivalent Enhancer	K562	blood
40	chr1:113044200-113044400	Enhancers	NHEK	skin
41	chr1:113044200-113044600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:113044200-113044600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
43	chr1:113044200-113044600	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
44	chr1:113044200-113044600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr1:113044200-113044600	Flanking Active TSS	Brain Angular Gyrus	brain
46	chr1:113044200-113044600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
47	chr1:113044200-113044600	Flanking Active TSS	Brain Substantia Nigra	brain
48	chr1:113044200-113044800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr1:113044200-113044800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr1:113044200-113044800	Active TSS	Duodenum Smooth Muscle	Duodenum

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