Variant report

Variant	rs72681243
Chromosome Location	chr14:77781476-77781477
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA2	chr14:77780881-77781535	A549	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:77775076..77779101-chr14:77779671..77782619,4	K562	blood:
2	chr14:77779002..77781613-chr14:77924414..77926801,2	MCF-7	breast:
3	chr14:77781065..77784774-chr14:77784883..77788972,8	K562	blood:
4	chr14:77559718..77567556-chr14:77781210..77790475,16	MCF-7	breast:
5	chr14:77646051..77648971-chr14:77780111..77782415,2	MCF-7	breast:
6	chr14:77618067..77622242-chr14:77780236..77782516,4	MCF-7	breast:

No data

Variant related genes	Relation type
POMT2	TF binding region
ENSG00000100577	Chromatin interaction
ENSG00000259164	Chromatin interaction
ENSG00000198894	Chromatin interaction
ENSG00000165548	Chromatin interaction
ENSG00000009830	Chromatin interaction
ENSG00000100591	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs17105658	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17105674	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2302831	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28988622	0.81[ASN][1000 genomes]
rs3742739	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs45561437	0.81[ASN][1000 genomes]
rs55673423	0.81[ASN][1000 genomes]
rs55886156	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55891221	0.89[EUR][1000 genomes]
rs55922804	0.81[ASN][1000 genomes]
rs56018212	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56091500	0.89[EUR][1000 genomes]
rs56403921	0.89[EUR][1000 genomes]
rs6574364	0.85[EUR][1000 genomes]
rs72681205	0.81[ASN][1000 genomes]
rs72681209	0.81[ASN][1000 genomes]
rs72681214	0.81[ASN][1000 genomes]
rs72681222	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs72681225	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72681227	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72681229	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72681235	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72681261	0.89[EUR][1000 genomes]
rs72681262	0.89[EUR][1000 genomes]
rs72681263	0.85[EUR][1000 genomes]
rs72681264	0.89[EUR][1000 genomes]
rs72681265	0.83[EUR][1000 genomes]
rs72681270	0.89[EUR][1000 genomes]
rs72681275	0.89[EUR][1000 genomes]
rs72681276	0.89[EUR][1000 genomes]
rs72681278	0.89[EUR][1000 genomes]
rs72681279	0.89[EUR][1000 genomes]
rs72681280	0.89[EUR][1000 genomes]
rs72681281	0.89[EUR][1000 genomes]
rs72681283	0.89[EUR][1000 genomes]
rs72681284	0.89[EUR][1000 genomes]
rs8177546	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8177560	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8177565	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8177567	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8177568	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8177571	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431017	chr14:76938089-77854647	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
2	nsv902105	chr14:77764884-77801431	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv902106	chr14:77767978-77801431	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77751400-77786200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr14:77770800-77785800	Weak transcription	K562	blood
3	chr14:77772600-77782200	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr14:77772600-77783800	Weak transcription	Dnd41	blood
5	chr14:77772600-77785800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr14:77772600-77786400	Weak transcription	Aorta	Aorta
7	chr14:77772800-77782400	Weak transcription	Liver	Liver
8	chr14:77772800-77785800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr14:77773800-77786800	Weak transcription	Small Intestine	intestine
10	chr14:77774000-77783400	Weak transcription	Stomach Mucosa	stomach
11	chr14:77775800-77785600	Weak transcription	HUVEC	blood vessel
12	chr14:77775800-77786200	Weak transcription	Primary T cells from cord blood	blood
13	chr14:77776000-77783000	Weak transcription	Fetal Thymus	thymus
14	chr14:77776000-77786000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr14:77776000-77786400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr14:77776200-77786200	Weak transcription	Primary B cells from cord blood	blood
17	chr14:77776600-77785800	Weak transcription	Fetal Brain Male	brain
18	chr14:77777000-77784800	Weak transcription	Fetal Brain Female	brain
19	chr14:77777400-77785200	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr14:77778000-77785800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr14:77778400-77784400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr14:77778800-77785800	Enhancers	Brain Cingulate Gyrus	brain
23	chr14:77779000-77781600	Enhancers	Brain Hippocampus Middle	brain
24	chr14:77779000-77782000	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr14:77779000-77782200	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr14:77779000-77782800	Enhancers	Placenta	Placenta
27	chr14:77779000-77783000	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr14:77779000-77785800	Enhancers	Brain Anterior Caudate	brain
29	chr14:77779000-77786200	Enhancers	Fetal Intestine Large	intestine
30	chr14:77779200-77782000	Enhancers	HSMMtube	muscle
31	chr14:77779200-77782000	Enhancers	NHDF-Ad	bronchial
32	chr14:77779200-77782400	Enhancers	H1 Cell Line	embryonic stem cell
33	chr14:77779200-77782400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr14:77779200-77782400	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr14:77779200-77782400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr14:77779200-77783000	Enhancers	Colon Smooth Muscle	Colon
37	chr14:77779200-77783200	Enhancers	Brain Substantia Nigra	brain
38	chr14:77779200-77784600	Enhancers	HepG2	liver
39	chr14:77779200-77785400	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr14:77779200-77785800	Enhancers	Brain Angular Gyrus	brain
41	chr14:77779400-77781600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr14:77779400-77781800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr14:77779400-77782000	Enhancers	H9 Cell Line	embryonic stem cell
44	chr14:77779400-77782000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr14:77779400-77782200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr14:77779400-77782400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr14:77779400-77782400	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr14:77779400-77782600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr14:77779400-77782800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr14:77779400-77783600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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