Variant report

Variant	rs8003273
Chromosome Location	chr14:21155100-21155101
allele	C/T
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	chr14:21154020-21155158	HepG2	liver:	n/a	n/a
2	TCF12	chr14:21153969-21155188	A549	lung:	n/a	chr14:21154678-21154687
3	FOXA1	chr14:21154345-21155121	HepG2	liver:	n/a	n/a
4	FOXA1	chr14:21154322-21155129	HepG2	liver:	n/a	n/a
5	POLR2A	chr14:21154076-21157065	HepG2	liver:	n/a	n/a
6	POLR2A	chr14:21154067-21155136	HepG2	liver:	n/a	n/a
7	MYBL2	chr14:21149166-21157106	HepG2	liver:	n/a	n/a
8	FOXA1	chr14:21154234-21155156	HepG2	liver:	n/a	n/a
9	POLR2A	chr14:21155064-21155206	HepG2	liver:	n/a	n/a
10	EP300	chr14:21154197-21155128	HepG2	liver:	n/a	n/a
11	TEAD4	chr14:21154043-21155144	HepG2	liver:	n/a	n/a
12	HEY1	chr14:21154052-21156216	HepG2	liver:	n/a	n/a
13	FOXA2	chr14:21154458-21155147	A549	lung:	n/a	n/a
14	MAX	chr14:21154444-21155186	A549	lung:	n/a	chr14:21154890-21154899
15	MBD4	chr14:21154103-21155249	HepG2	liver:	n/a	n/a
16	FOXA2	chr14:21154214-21156561	HepG2	liver:	n/a	n/a
17	POLR2A	chr14:21149565-21157979	HepG2	liver:	n/a	n/a
18	MAX	chr14:21154135-21155334	HepG2	liver:	n/a	chr14:21154890-21154899
19	EP300	chr14:21154286-21155127	A549	lung:	n/a	n/a
20	HEY1	chr14:21149274-21156448	HepG2	liver:	n/a	chr14:21150173-21150188 chr14:21152606-21152621
21	SP1	chr14:21154186-21155110	HepG2	liver:	n/a	n/a
22	SP1	chr14:21154127-21155101	A549	lung:	n/a	n/a
23	NFIC	chr14:21154122-21157136	HepG2	liver:	n/a	n/a
24	MXI1	chr14:21154235-21155127	HepG2	liver:	n/a	n/a
25	ARID3A	chr14:21154135-21155172	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:21142221..21144211-chr14:21155059..21156695,2	MCF-7	breast:
2	chr14:21139985..21141822-chr14:21153091..21155935,2	MCF-7	breast:
3	chr14:21150737..21154554-chr14:21154913..21160550,6	K562	blood:

Variant related genes	Relation type
RNASE4	TF binding region
ANG	TF binding region
ENSG00000259171	Chromatin interaction
ENSG00000214274	Chromatin interaction
ENSG00000258818	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs17092013	1.00[EUR][1000 genomes]
rs17112928	1.00[EUR][1000 genomes]
rs17112943	1.00[EUR][1000 genomes]
rs17112951	1.00[EUR][1000 genomes]
rs17113273	1.00[EUR][1000 genomes]
rs2228653	1.00[EUR][1000 genomes]
rs55747318	1.00[EUR][1000 genomes]
rs55795834	1.00[EUR][1000 genomes]
rs55917840	1.00[EUR][1000 genomes]
rs55987734	1.00[EUR][1000 genomes]
rs56294788	1.00[EUR][1000 genomes]
rs57630159	1.00[EUR][1000 genomes]
rs58957711	1.00[EUR][1000 genomes]
rs58964539	1.00[EUR][1000 genomes]
rs59800190	1.00[EUR][1000 genomes]
rs60239610	1.00[EUR][1000 genomes]
rs60292704	1.00[EUR][1000 genomes]
rs60508855	1.00[EUR][1000 genomes]
rs7143903	1.00[EUR][1000 genomes]
rs7146539	1.00[EUR][1000 genomes]
rs7155848	1.00[EUR][1000 genomes]
rs7160116	1.00[EUR][1000 genomes]
rs73571210	1.00[EUR][1000 genomes]
rs73571212	1.00[EUR][1000 genomes]
rs73571302	1.00[EUR][1000 genomes]
rs74034305	1.00[EUR][1000 genomes]
rs74034308	1.00[EUR][1000 genomes]
rs74034309	1.00[EUR][1000 genomes]
rs8010422	1.00[EUR][1000 genomes]
rs8018216	1.00[EUR][1000 genomes]
rs8022560	1.00[EUR][1000 genomes]
rs8022642	1.00[EUR][1000 genomes]
rs8022887	1.00[EUR][1000 genomes]
rs8022889	1.00[EUR][1000 genomes]
rs8022924	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043923	chr14:20338742-21336425	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
2	nsv541970	chr14:20338742-21336425	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
3	esv21015	chr14:20800765-21257878	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
4	nsv1051489	chr14:21026592-21214763	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
5	nsv1203	chr14:21120868-21166077	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv1045004	chr14:21124345-21180397	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
7	nsv541975	chr14:21124345-21180397	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21148800-21155400	Bivalent/Poised TSS	HepG2	liver
2	chr14:21149200-21155200	Active TSS	Right Atrium	heart
3	chr14:21149200-21155400	Active TSS	Ovary	ovary
4	chr14:21150200-21156000	Active TSS	Stomach Mucosa	stomach
5	chr14:21152600-21156200	Active TSS	Colonic Mucosa	Colon
6	chr14:21153200-21155200	Flanking Active TSS	Duodenum Mucosa	Duodenum
7	chr14:21153400-21155800	Active TSS	Fetal Stomach	stomach
8	chr14:21153600-21155200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr14:21153600-21155400	Weak transcription	Lung	lung
10	chr14:21153600-21155600	Weak transcription	Gastric	stomach
11	chr14:21153600-21155600	Weak transcription	Right Ventricle	heart
12	chr14:21153600-21159000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr14:21153600-21159000	Weak transcription	Brain Angular Gyrus	brain
14	chr14:21153600-21159000	Weak transcription	Brain Anterior Caudate	brain
15	chr14:21153600-21159000	Weak transcription	GM12878-XiMat	blood
16	chr14:21153600-21159000	Weak transcription	K562	blood
17	chr14:21153600-21161600	Weak transcription	Left Ventricle	heart
18	chr14:21153600-21169000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr14:21153600-21169600	Weak transcription	Esophagus	oesophagus
20	chr14:21153600-21169800	Weak transcription	Fetal Muscle Leg	muscle
21	chr14:21153800-21155400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr14:21153800-21155400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr14:21153800-21156600	Enhancers	Fetal Lung	lung
24	chr14:21153800-21158800	Weak transcription	NHEK	skin
25	chr14:21153800-21159000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr14:21153800-21159000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr14:21153800-21159000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr14:21153800-21159000	Weak transcription	HSMMtube	muscle
29	chr14:21153800-21165800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr14:21153800-21165800	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr14:21154200-21155200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr14:21154200-21155200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr14:21154200-21155800	Flanking Active TSS	Fetal Intestine Small	intestine
34	chr14:21154200-21156200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
35	chr14:21154400-21155200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr14:21154400-21155400	Weak transcription	Pancreas	Pancrea
37	chr14:21154400-21159000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr14:21154400-21167200	Weak transcription	Aorta	Aorta
39	chr14:21154400-21168800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr14:21154600-21155400	Active TSS	Liver	Liver
41	chr14:21154600-21155400	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr14:21154600-21156200	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr14:21154600-21156400	Enhancers	Colon Smooth Muscle	Colon
44	chr14:21154600-21156400	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr14:21154600-21158400	Weak transcription	Dnd41	blood
46	chr14:21154600-21159000	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr14:21154600-21159200	Weak transcription	Brain Substantia Nigra	brain
48	chr14:21154600-21167600	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr14:21154800-21155200	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr14:21154800-21155600	Flanking Active TSS	Stomach Smooth Muscle	stomach

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