Variant report

Variant	rs7153124
Chromosome Location	chr14:39573402-39573403
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

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	HEY1	chr14:39571434-39573445	HepG2	liver:	n/a	n/a
3	TEAD4	chr14:39571287-39573436	HepG2	liver:	n/a	n/a
4	POLR2A	chr14:39573225-39573474	ProgFib	skin:	n/a	n/a
5	MYBL2	chr14:39570718-39573407	HepG2	liver:	n/a	n/a
6	MAZ	chr14:39571354-39573460	IMR90	lung:	n/a	n/a
7	POLR2A	chr14:39571364-39573446	HepG2	liver:	n/a	n/a
8	POLR2A	chr14:39572183-39573443	HepG2	liver:	n/a	n/a
9	TBP	chr14:39573186-39573464	K562	blood:	n/a	n/a
10	POLR2A	chr14:39571075-39574433	HepG2	liver:	n/a	n/a
11	POLR2A	chr14:39571511-39573411	IMR90	lung:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:39572245..39573793-chr14:39838003..39840919,2	MCF-7	breast:
2	chr14:39572117..39574614-chr14:39901062..39903055,2	MCF-7	breast:
3	chr12:31012012..31014998-chr14:39572460..39574108,2	MCF-7	breast:
4	chr14:39570348..39574070-chr14:39637691..39640941,4	MCF-7	breast:
5	chr14:39571162..39573957-chr14:39700069..39703541,3	MCF-7	breast:
6	chr14:39572251..39574864-chr14:39637876..39641106,3	MCF-7	breast:
7	chr14:39569997..39574883-chr14:39575393..39578347,7	MCF-7	breast:
8	chr14:39572264..39573816-chr14:39900834..39903460,2	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	chr14:39572308..39574521-chr14:39576459..39578520,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258591	TF binding region
SEC23A	TF binding region
ENSG00000150526	Chromatin interaction
ENSG00000258941	Chromatin interaction
ENSG00000258591	Chromatin interaction
ENSG00000271424	Chromatin interaction
ENSG00000165355	Chromatin interaction
ENSG00000258118	Chromatin interaction
ENSG00000100934	Chromatin interaction
ENSG00000182400	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10130972	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10133797	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10136536	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10140341	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10149120	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10151683	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12147991	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12437405	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12883061	0.86[EUR][1000 genomes]
rs12891258	0.81[AMR][1000 genomes]
rs12894046	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13379360	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17108846	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2415524	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2737721	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2737729	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2753606	0.86[ASN][1000 genomes]
rs28379470	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs28485301	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28502115	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2869	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs28810420	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28856917	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34642409	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34816815	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35035794	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35224434	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35423721	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35992529	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3742354	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3759545	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4143954	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4902405	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4902406	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4902418	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4902431	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4902435	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4902448	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58851254	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6571893	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs67248626	0.86[ASN][1000 genomes]
rs7147194	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8006879	0.86[ASN][1000 genomes]
rs9322994	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7153124	SIP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39571000-39573600	Active TSS	NHLF	lung
2	chr14:39571200-39573600	Active TSS	NHDF-Ad	bronchial
3	chr14:39571400-39573600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr14:39571400-39573600	Active TSS	GM12878-XiMat	blood
5	chr14:39571400-39573600	Active TSS	NHEK	skin
6	chr14:39571600-39573600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr14:39571600-39573600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr14:39572400-39573800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr14:39572800-39573600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:39572800-39573600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr14:39573000-39573800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr14:39573000-39573800	Flanking Active TSS	Hela-S3	cervix
13	chr14:39573000-39574000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
14	chr14:39573000-39574000	Flanking Active TSS	Dnd41	blood
15	chr14:39573200-39573600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
16	chr14:39573200-39573600	Flanking Active TSS	Fetal Lung	lung
17	chr14:39573200-39573600	Enhancers	Placenta	Placenta
18	chr14:39573200-39573600	Enhancers	Lung	lung
19	chr14:39573200-39573800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr14:39573200-39573800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr14:39573200-39573800	Weak transcription	Esophagus	oesophagus
22	chr14:39573200-39574000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:39573200-39574000	Enhancers	Primary B cells from peripheral blood	blood
24	chr14:39573200-39574000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr14:39573200-39574000	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr14:39573200-39574000	Weak transcription	Aorta	Aorta
27	chr14:39573200-39574000	Flanking Active TSS	HepG2	liver
28	chr14:39573200-39577800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr14:39573400-39573600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr14:39573400-39573600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr14:39573400-39573600	Enhancers	Primary B cells from cord blood	blood
32	chr14:39573400-39573600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr14:39573400-39573600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr14:39573400-39573600	Enhancers	Adipose Nuclei	Adipose
35	chr14:39573400-39573600	Enhancers	Brain Hippocampus Middle	brain
36	chr14:39573400-39573600	Enhancers	Pancreas	Pancrea
37	chr14:39573400-39573600	Enhancers	Psoas Muscle	Psoas
38	chr14:39573400-39573600	Active TSS	Rectal Smooth Muscle	rectum
39	chr14:39573400-39573800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr14:39573400-39573800	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr14:39573400-39573800	Enhancers	Colonic Mucosa	Colon
42	chr14:39573400-39573800	Enhancers	Fetal Muscle Trunk	muscle
43	chr14:39573400-39573800	Enhancers	Placenta Amnion	Placenta Amnion
44	chr14:39573400-39573800	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr14:39573400-39573800	Enhancers	Thymus	Thymus
46	chr14:39573400-39573800	Enhancers	HUVEC	blood vessel
47	chr14:39573400-39573800	Weak transcription	NH-A	brain
48	chr14:39573400-39573800	Enhancers	Osteobl	bone
49	chr14:39573400-39574000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr14:39573400-39574000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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