Variant report

Variant	rs6571895
Chromosome Location	chr14:39571419-39571420
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYBL2	chr14:39571279-39573448	HepG2	liver:	n/a	n/a
2	CREB1	chr14:39571360-39573159	HepG2	liver:	n/a	chr14:39572433-39572446
3	HDAC2	chr14:39571348-39573194	HepG2	liver:	n/a	chr14:39571485-39571499 chr14:39573138-39573152 chr14:39571493-39571507
4	CEBPB	chr14:39571268-39572759	HepG2	liver:	n/a	chr14:39572311-39572322 chr14:39572311-39572322
5	TEAD4	chr14:39571287-39573436	HepG2	liver:	n/a	n/a
6	MYBL2	chr14:39570718-39573407	HepG2	liver:	n/a	n/a
7	REST	chr14:39571267-39572980	HepG2	liver:	n/a	chr14:39572340-39572353 chr14:39572138-39572151 chr14:39572218-39572228 chr14:39572673-39572686
8	NFIC	chr14:39571324-39573375	HepG2	liver:	n/a	n/a
9	MAZ	chr14:39571354-39573460	IMR90	lung:	n/a	n/a
10	MBD4	chr14:39571281-39573292	HepG2	liver:	n/a	n/a
11	POLR2A	chr14:39571364-39573446	HepG2	liver:	n/a	n/a
12	CEBPB	chr14:39571288-39571506	H1-hESC	embryonic stem cell:	n/a	n/a
13	MBD4	chr14:39571325-39573324	HepG2	liver:	n/a	n/a
14	POLR2A	chr14:39571075-39574433	HepG2	liver:	n/a	n/a
15	NFIC	chr14:39571378-39573322	HepG2	liver:	n/a	n/a
16	HEY1	chr14:39571381-39573400	HepG2	liver:	n/a	n/a
17	POLR2A	chr14:39571416-39572173	HepG2	liver:	n/a	n/a
18	POLR2A	chr14:39571383-39573308	HepG2	liver:	n/a	n/a
19	SP1	chr14:39571413-39572158	HepG2	liver:	n/a	chr14:39571950-39571964

No.	Distal block	Cell Line	Cell type
1	chr14:39556842..39558862-chr14:39570996..39573006,2	MCF-7	breast:
2	chr14:39569453..39572073-chr14:39590270..39592529,2	K562	blood:
3	chr14:39559381..39561366-chr14:39570392..39572584,2	K562	blood:
4	chr14:39570644..39573336-chr14:39733309..39737125,4	MCF-7	breast:
5	chr14:39570654..39572608-chr14:39637696..39639686,2	K562	blood:
6	chr14:39570348..39574070-chr14:39637691..39640941,4	MCF-7	breast:
7	chr14:39571162..39573957-chr14:39700069..39703541,3	MCF-7	breast:
8	chr14:39569997..39574883-chr14:39575393..39578347,7	MCF-7	breast:
9	chr14:39570753..39574803-chr14:39575206..39579488,6	K562	blood:
10	chr14:39570993..39573887-chr14:39839322..39841759,2	MCF-7	breast:
11	chr14:39571044..39574449-chr14:39575206..39581914,9	K562	blood:
12	chr14:39570001..39572147-chr14:39582267..39584082,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258651	TF binding region
ENSG00000100934	Chromatin interaction
ENSG00000258940	Chromatin interaction
ENSG00000092208	Chromatin interaction
ENSG00000271424	Chromatin interaction
ENSG00000258591	Chromatin interaction
ENSG00000150526	Chromatin interaction
ENSG00000182400	Chromatin interaction
ENSG00000259121	Chromatin interaction
ENSG00000150527	Chromatin interaction
ENSG00000258941	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10132034	0.93[AMR][1000 genomes]
rs10132953	0.93[AMR][1000 genomes]
rs10149829	0.93[AMR][1000 genomes]
rs11157046	0.86[AMR][1000 genomes]
rs11157047	0.86[AMR][1000 genomes]
rs11157048	0.88[AMR][1000 genomes]
rs12434607	0.82[AMR][1000 genomes]
rs12895329	0.86[AMR][1000 genomes]
rs175341	0.84[AMR][1000 genomes]
rs1950509	0.93[AMR][1000 genomes]
rs1955917	0.84[AMR][1000 genomes]
rs1956629	0.86[AMR][1000 genomes]
rs1964842	0.93[AMR][1000 genomes]
rs2038357	0.95[AMR][1000 genomes]
rs2180214	0.93[AMR][1000 genomes]
rs2180217	0.93[AMR][1000 genomes]
rs2180792	0.86[AMR][1000 genomes]
rs2252040	0.86[AMR][1000 genomes]
rs3899404	0.84[AMR][1000 genomes]
rs4290398	0.86[AMR][1000 genomes]
rs4616209	0.88[AMR][1000 genomes]
rs4902402	0.91[AMR][1000 genomes]
rs4902419	0.86[AMR][1000 genomes]
rs6571888	0.84[AMR][1000 genomes]
rs6571889	0.93[AMR][1000 genomes]
rs6571890	0.93[AMR][1000 genomes]
rs6571891	0.93[AMR][1000 genomes]
rs6571894	0.93[AMR][1000 genomes]
rs6571896	0.91[AMR][1000 genomes]
rs7154585	0.86[AMR][1000 genomes]
rs761804	0.86[AMR][1000 genomes]
rs761806	0.86[AMR][1000 genomes]
rs761807	0.86[AMR][1000 genomes]
rs8003194	0.93[AMR][1000 genomes]
rs8003485	0.86[AMR][1000 genomes]
rs8003807	0.86[AMR][1000 genomes]
rs8007063	0.80[AMR][1000 genomes]
rs8010111	0.86[AMR][1000 genomes]
rs8011855	0.86[AMR][1000 genomes]
rs8012178	0.84[AMR][1000 genomes]
rs8014255	0.86[AMR][1000 genomes]
rs8014677	0.86[AMR][1000 genomes]
rs8021225	0.80[AMR][1000 genomes]
rs8022141	0.86[AMR][1000 genomes]
rs9671927	0.84[AMR][1000 genomes]
rs970623	0.84[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	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1038622	chr14:39423562-39604035	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 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	chr14:39554800-39571600	Weak transcription	K562	blood
2	chr14:39555200-39571600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:39560400-39571600	Weak transcription	Esophagus	oesophagus
4	chr14:39560400-39571600	Weak transcription	Gastric	stomach
5	chr14:39561600-39571600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr14:39563400-39571600	Weak transcription	Thymus	Thymus
7	chr14:39565000-39571600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr14:39565000-39571600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr14:39565400-39571600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr14:39565400-39571600	Weak transcription	Ovary	ovary
11	chr14:39565600-39571600	Weak transcription	Left Ventricle	heart
12	chr14:39567600-39571600	Weak transcription	Fetal Heart	heart
13	chr14:39567800-39571600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr14:39567800-39571600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr14:39568000-39571600	Weak transcription	Small Intestine	intestine
16	chr14:39568600-39571600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr14:39569200-39571600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr14:39569600-39571600	Enhancers	Primary T cells fromperipheralblood	blood
19	chr14:39569600-39573400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr14:39569800-39571600	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr14:39569800-39571600	Weak transcription	Stomach Mucosa	stomach
22	chr14:39569800-39573000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr14:39570200-39571600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr14:39570200-39573000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr14:39570400-39573200	Active TSS	Fetal Intestine Large	intestine
26	chr14:39570400-39573400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr14:39570400-39573400	Active TSS	NH-A	brain
28	chr14:39570600-39571600	Enhancers	Lung	lung
29	chr14:39570600-39573400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr14:39570800-39571600	Enhancers	Fetal Brain Male	brain
31	chr14:39570800-39571600	Weak transcription	Pancreas	Pancrea
32	chr14:39570800-39571800	Flanking Active TSS	HUVEC	blood vessel
33	chr14:39570800-39572000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr14:39570800-39572800	Active TSS	Primary T cells from cord blood	blood
35	chr14:39570800-39572800	Active TSS	Fetal Brain Female	brain
36	chr14:39570800-39573400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr14:39570800-39573400	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr14:39570800-39573400	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr14:39571000-39571600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr14:39571000-39571600	Active TSS	Brain Angular Gyrus	brain
41	chr14:39571000-39571600	Enhancers	Brain Substantia Nigra	brain
42	chr14:39571000-39572000	Flanking Active TSS	Dnd41	blood
43	chr14:39571000-39572200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr14:39571000-39572200	Active TSS	Brain Germinal Matrix	brain
45	chr14:39571000-39573000	Active TSS	Fetal Muscle Leg	muscle
46	chr14:39571000-39573000	Active TSS	HSMMtube	muscle
47	chr14:39571000-39573200	Active TSS	Muscle Satellite Cultured Cells	--
48	chr14:39571000-39573200	Active TSS	Aorta	Aorta
49	chr14:39571000-39573200	Active TSS	Duodenum Mucosa	Duodenum
50	chr14:39571000-39573200	Active TSS	A549	lung

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