Variant report

Variant	rs72714706
Chromosome Location	chr8:125555282-125555283
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr8:125555262-125555506	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr8:125554491-125558052	K562	blood:	n/a	n/a
3	SP1	chr8:125555238-125555607	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr8:125555265-125555545	T-47D	breast:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125485971..125490407-chr8:125553790..125556730,4	MCF-7	breast:
2	chr8:125550700..125556653-chr8:126010348..126014681,6	K562	blood:
3	chr8:125520394..125523282-chr8:125554552..125556147,2	MCF-7	breast:
4	chr4:83293458..83295359-chr8:125553294..125555708,2	MCF-7	breast:

No data

Variant related genes	Relation type
NDUFB9	TF binding region
TATDN1	TF binding region
ENSG00000253513	Chromatin interaction
ENSG00000138668	Chromatin interaction
ENSG00000170881	Chromatin interaction
ENSG00000245149	Chromatin interaction
ENSG00000104549	Chromatin interaction
ENSG00000147687	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11542673	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11986208	0.92[EUR][1000 genomes]
rs16899649	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16899653	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3829038	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4301437	0.92[EUR][1000 genomes]
rs4870899	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4870902	1.00[EUR][1000 genomes]
rs4871493	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4871496	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4871497	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55759812	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55872747	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55946925	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56158167	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56291877	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67764028	0.96[EUR][1000 genomes]
rs72713064	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72713066	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72713068	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72713072	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72713074	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72713078	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72713081	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72713082	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72713088	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72713090	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72713094	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72713101	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714703	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714704	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714707	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714712	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531508	chr8:125390194-125587953	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125552000-125555400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr8:125552000-125557400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:125552200-125565200	Weak transcription	Small Intestine	intestine
4	chr8:125552200-125565800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:125552200-125568600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr8:125552400-125555400	Weak transcription	Colonic Mucosa	Colon
7	chr8:125552600-125555400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr8:125552600-125556400	Weak transcription	Stomach Mucosa	stomach
9	chr8:125553000-125555400	Weak transcription	Brain Substantia Nigra	brain
10	chr8:125553000-125558800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
11	chr8:125553200-125555400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr8:125553200-125555400	Weak transcription	NHEK	skin
13	chr8:125553200-125555600	Genic enhancers	K562	blood
14	chr8:125553200-125555800	Weak transcription	HMEC	breast
15	chr8:125553200-125556400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:125553400-125555600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:125553400-125556000	Weak transcription	Psoas Muscle	Psoas
18	chr8:125553400-125557200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:125553400-125568000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr8:125553400-125568200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr8:125553400-125575200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr8:125553400-125575200	Strong transcription	Fetal Muscle Leg	muscle
23	chr8:125553600-125555400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr8:125553600-125556400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr8:125553600-125566400	Strong transcription	A549	lung
26	chr8:125553600-125566800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr8:125553800-125555400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:125553800-125556000	Genic enhancers	Primary T cells fromperipheralblood	blood
29	chr8:125553800-125556000	Strong transcription	Fetal Intestine Small	intestine
30	chr8:125553800-125557800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr8:125553800-125575400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr8:125553800-125581200	Strong transcription	Fetal Brain Female	brain
33	chr8:125554000-125556200	Strong transcription	Fetal Stomach	stomach
34	chr8:125554000-125572400	Strong transcription	Thymus	Thymus
35	chr8:125554000-125574000	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr8:125554200-125556400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr8:125554200-125556800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr8:125554200-125566800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr8:125554200-125568600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr8:125554200-125570000	Strong transcription	Fetal Thymus	thymus
41	chr8:125554200-125576200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr8:125554400-125555400	Genic enhancers	Gastric	stomach
43	chr8:125554400-125555800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr8:125554400-125556000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr8:125554400-125556200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr8:125554400-125556800	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr8:125554400-125558200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
48	chr8:125554400-125560200	Strong transcription	Osteobl	bone
49	chr8:125554400-125560600	Strong transcription	Fetal Lung	lung
50	chr8:125554400-125561000	Strong transcription	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links