Variant report

Variant	rs4714792
Chromosome Location	chr6:44443642-44443643
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	chr6:44442445..44447708-chr6:44448883..44454156,7	K562	blood:
2	chr6:44425423..44427943-chr6:44442829..44445117,2	K562	blood:
3	chr6:44437604..44439471-chr6:44442084..44443987,2	K562	blood:
4	chr6:44441495..44443900-chr6:44460789..44462703,2	K562	blood:
5	chr6:44443194..44444066-chr6:44612712..44613289,2	K562	blood:
6	chr6:44443511..44444073-chr6:44461893..44462618,3	MCF-7	breast:
7	chr6:44443305..44444149-chr6:44612776..44613599,4	MCF-7	breast:
8	chr6:44442941..44444105-chr6:44612752..44613952,7	MCF-7	breast:
9	chr6:44439479..44441221-chr6:44441987..44444442,2	K562	blood:
10	chr6:44443174..44444085-chr6:45053756..45054587,2	MCF-7	breast:
11	chr6:44398764..44401371-chr6:44442725..44444644,2	K562	blood:
12	chr6:44441691..44443729-chr6:44564555..44566967,2	MCF-7	breast:
13	chr6:44443146..44444036-chr6:45682199..45683153,3	K562	blood:
14	chr6:44442588..44445114-chr6:44456905..44459288,2	MCF-7	breast:
15	chr6:44443535..44445771-chr6:44611397..44614174,2	MCF-7	breast:
16	chr6:44443149..44444048-chr6:45890206..45890910,3	K562	blood:
17	chr6:44436258..44440979-chr6:44441987..44444990,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000267849	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11969085	1.00[AFR][1000 genomes]
rs72867847	1.00[AFR][1000 genomes]
rs72867849	1.00[AFR][1000 genomes]
rs72869627	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9349289	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9381329	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9395027	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv603006	chr6:44428506-44449697	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv885860	chr6:44428506-44454333	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44438000-44453200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr6:44441200-44448600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr6:44441400-44443800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:44441800-44446200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr6:44442000-44443800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:44442200-44444000	Enhancers	NH-A	brain
7	chr6:44442200-44444200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr6:44442400-44444000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:44442400-44444200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:44442400-44445600	Enhancers	K562	blood
11	chr6:44442600-44444200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:44442600-44444200	Enhancers	Fetal Intestine Large	intestine
13	chr6:44442600-44444200	Enhancers	Fetal Intestine Small	intestine
14	chr6:44442600-44444200	Enhancers	HMEC	breast
15	chr6:44442600-44444200	Enhancers	HSMMtube	muscle
16	chr6:44442600-44444400	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr6:44442800-44444000	Bivalent Enhancer	Stomach Mucosa	stomach
18	chr6:44442800-44444200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:44442800-44444200	Enhancers	HSMM	muscle
20	chr6:44443000-44444000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr6:44443000-44444000	Enhancers	Fetal Heart	heart
22	chr6:44443000-44444600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr6:44443200-44444000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr6:44443200-44444000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr6:44443200-44444000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr6:44443200-44444000	Enhancers	Placenta Amnion	Placenta Amnion
27	chr6:44443200-44444000	Enhancers	Psoas Muscle	Psoas
28	chr6:44443200-44444000	Flanking Active TSS	Hela-S3	cervix
29	chr6:44443200-44444200	Enhancers	H1 Cell Line	embryonic stem cell
30	chr6:44443200-44444200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr6:44443200-44444200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:44443200-44444200	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr6:44443200-44444200	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr6:44443200-44444200	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr6:44443200-44444200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr6:44443200-44444200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr6:44443200-44444200	Enhancers	Fetal Brain Male	brain
38	chr6:44443200-44444200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
39	chr6:44443200-44444200	Bivalent Enhancer	Fetal Muscle Leg	muscle
40	chr6:44443200-44444200	Bivalent Enhancer	Fetal Stomach	stomach
41	chr6:44443200-44444400	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr6:44443200-44444400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr6:44443200-44444800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr6:44443200-44445400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr6:44443400-44443800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr6:44443400-44443800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr6:44443400-44443800	Enhancers	Esophagus	oesophagus
48	chr6:44443400-44443800	Enhancers	A549	lung
49	chr6:44443400-44443800	Bivalent Enhancer	Dnd41	blood
50	chr6:44443400-44443800	Bivalent/Poised TSS	HepG2	liver

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