Variant report

Variant	rs4899272
Chromosome Location	chr14:69392264-69392265
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:69392233-69392374	HepG2	liver:	n/a	n/a
2	POLR2A	chr14:69392214-69392348	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:69391196..69393563-chr14:69405048..69407847,2	MCF-7	breast:
2	chr14:69388864..69393027-chr14:69403394..69408215,5	MCF-7	breast:
3	chr14:69378571..69380525-chr14:69392033..69394112,2	K562	blood:
4	chr14:69385888..69393669-chr14:69442988..69447287,14	MCF-7	breast:
5	chr14:69390453..69396616-chr14:69408232..69413432,8	MCF-7	breast:
6	chr14:69327935..69330072-chr14:69390363..69392923,3	MCF-7	breast:

No data

Variant related genes	Relation type
ACTN1	TF binding region
ENSG00000072110	Chromatin interaction
ENSG00000270975	Chromatin interaction
ENSG00000259062	Chromatin interaction

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

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

rs_ID	r²[population]
rs10145285	0.81[AMR][1000 genomes]
rs11158777	1.00[CEU][hapmap];0.90[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1884632	0.88[CEU][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4902672	0.87[YRI][hapmap]
rs4902677	0.81[AMR][1000 genomes]
rs743128	0.87[MEX][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes]
rs8016954	0.81[AMR][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	nsv832823	chr14:69388853-69567638	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv564964	chr14:69392264-69423164	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69337400-69404400	Weak transcription	Fetal Brain Male	brain
2	chr14:69339200-69394600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:69345800-69394800	Weak transcription	Small Intestine	intestine
4	chr14:69354000-69393200	Strong transcription	NHEK	skin
5	chr14:69354600-69393000	Strong transcription	Dnd41	blood
6	chr14:69362600-69393400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr14:69372400-69404400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr14:69376000-69395400	Weak transcription	Brain Angular Gyrus	brain
9	chr14:69376600-69392400	Weak transcription	Brain Germinal Matrix	brain
10	chr14:69378800-69394000	Weak transcription	Stomach Mucosa	stomach
11	chr14:69378800-69402400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr14:69380200-69392600	Strong transcription	HUVEC	blood vessel
13	chr14:69382000-69394200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr14:69385200-69393200	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr14:69385600-69402800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr14:69386000-69392400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr14:69387000-69395000	Weak transcription	Fetal Kidney	kidney
18	chr14:69387000-69402600	Weak transcription	K562	blood
19	chr14:69387400-69420400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr14:69387800-69394600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr14:69387800-69405600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr14:69388000-69392800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr14:69388000-69392800	Weak transcription	Fetal Brain Female	brain
24	chr14:69388000-69393000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr14:69388200-69393000	Weak transcription	Duodenum Mucosa	Duodenum
26	chr14:69388400-69392600	Genic enhancers	HepG2	liver
27	chr14:69388400-69393200	Genic enhancers	HMEC	breast
28	chr14:69388600-69392400	Genic enhancers	Primary T cells fromperipheralblood	blood
29	chr14:69388800-69392400	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr14:69388800-69392400	Genic enhancers	HUES6 Cell Line	embryonic stem cell
31	chr14:69389200-69394200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr14:69389400-69392600	Genic enhancers	Primary T cells from cord blood	blood
33	chr14:69389400-69393000	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr14:69389400-69394000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr14:69389400-69397400	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr14:69389600-69392600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr14:69389600-69392600	Genic enhancers	Colon Smooth Muscle	Colon
38	chr14:69389600-69404400	Weak transcription	Psoas Muscle	Psoas
39	chr14:69389800-69392400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr14:69389800-69392800	Strong transcription	Fetal Intestine Small	intestine
41	chr14:69390000-69392400	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr14:69390000-69392600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
43	chr14:69390000-69392600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr14:69390000-69393000	Strong transcription	Fetal Intestine Large	intestine
45	chr14:69390000-69397800	Weak transcription	Brain Anterior Caudate	brain
46	chr14:69390000-69402200	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr14:69390000-69404400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr14:69390200-69392400	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr14:69390200-69392400	Genic enhancers	Fetal Muscle Leg	muscle
50	chr14:69390200-69394000	Weak transcription	Aorta	Aorta

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