Variant report

Variant	rs575923869
Chromosome Location	chr2:151023038-151023039
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	NR2F2	chr2:151022604-151023351	MCF-7	breast:	n/a	n/a
2	JUN	chr2:151022479-151024829	K562	blood:	n/a	chr2:151024331-151024340 chr2:151024330-151024339 chr2:151024331-151024339 chr2:151024332-151024339
3	GATA3	chr2:151022625-151023603	MCF-7	breast:	n/a	n/a
4	NR2F2	chr2:151022883-151023612	K562	blood:	n/a	n/a
5	NR3C1	chr2:151022768-151023155	A549	lung:	n/a	chr2:151022958-151022972
6	SIX5	chr2:151022768-151023157	A549	lung:	n/a	n/a
7	STAT3	chr2:151022764-151023298	Hela-S3	cervix:	n/a	n/a
8	FOXA1	chr2:151022792-151023054	ECC-1	luminal epithelium:	n/a	chr2:151022974-151022989
9	FOXM1	chr2:151022662-151023337	MCF-7	breast:	n/a	n/a
10	FOSL2	chr2:151022496-151023512	A549	lung:	n/a	n/a
11	TCF12	chr2:151022607-151023219	A549	lung:	n/a	n/a
12	SP1	chr2:151022500-151023612	A549	lung:	n/a	n/a
13	JUND	chr2:151022465-151023531	K562	blood:	n/a	n/a
14	CEBPB	chr2:151022488-151023048	K562	blood:	n/a	chr2:151022687-151022698
15	TCF7L2	chr2:151022850-151023200	MCF-7	breast:	n/a	n/a
16	NR3C1	chr2:151022789-151023090	A549	lung:	n/a	chr2:151022958-151022972
17	E2F6	chr2:151022732-151023410	A549	lung:	n/a	n/a
18	HA-E2F1	chr2:151022701-151023376	MCF-7	breast:	n/a	n/a
19	CEBPB	chr2:151022542-151023256	A549	lung:	n/a	chr2:151022687-151022698
20	REST	chr2:151022617-151023131	A549	lung:	n/a	n/a
21	GABPA	chr2:151022650-151023300	A549	lung:	n/a	n/a
22	MAZ	chr2:151022961-151023183	K562	blood:	n/a	n/a
23	E2F6	chr2:151022948-151023126	K562	blood:	n/a	n/a
24	FOXA1	chr2:151022787-151023173	T-47D	breast:	n/a	chr2:151022974-151022989
25	CEBPB	chr2:151022444-151023528	A549	lung:	n/a	chr2:151022687-151022698
26	POLR2A	chr2:151022713-151023491	PANC-1	pancreas:	n/a	n/a
27	CEBPB	chr2:151022480-151023075	HCT-116	colon:	n/a	chr2:151022687-151022698
28	FOSL2	chr2:151022696-151023224	MCF-7	breast:	n/a	n/a
29	HDAC2	chr2:151022718-151023295	MCF-7	breast:	n/a	chr2:151022937-151022946
30	SMC3	chr2:151022930-151023089	K562	blood:	n/a	n/a
31	BCL3	chr2:151022607-151023328	A549	lung:	n/a	n/a
32	GABPA	chr2:151022696-151023298	A549	lung:	n/a	n/a
33	TCF12	chr2:151022353-151023716	A549	lung:	n/a	n/a
34	RAD21	chr2:151022463-151023398	A549	lung:	n/a	n/a
35	EP300	chr2:151022526-151023249	Hela-S3	cervix:	n/a	chr2:151022688-151022702 chr2:151022936-151022946 chr2:151023120-151023127
36	FOXA2	chr2:151022839-151023127	HepG2	liver:	n/a	n/a
37	POLR2A	chr2:151022680-151023529	PANC-1	pancreas:	n/a	n/a
38	ELF1	chr2:151022705-151023170	A549	lung:	n/a	n/a
39	GATA3	chr2:151021965-151023762	A549	lung:	n/a	n/a
40	CBX3	chr2:151022715-151023222	K562	blood:	n/a	n/a
41	SIN3AK20	chr2:151022611-151023401	MCF-7	breast:	n/a	n/a
42	EP300	chr2:151022391-151023559	A549	lung:	n/a	chr2:151022688-151022702 chr2:151022936-151022946 chr2:151023120-151023127
43	NR3C1	chr2:151022606-151023165	A549	lung:	n/a	chr2:151022958-151022972
44	FOXA1	chr2:151022689-151023395	T-47D	breast:	n/a	chr2:151022974-151022989
45	SIN3AK20	chr2:151022728-151023182	A549	lung:	n/a	n/a
46	EP300	chr2:151022656-151023289	MCF-7	breast:	n/a	chr2:151022688-151022702 chr2:151022936-151022946 chr2:151023120-151023127
47	PRDM1	chr2:151022511-151023221	Hela-S3	cervix:	n/a	chr2:151022875-151022884 chr2:151022871-151022885 chr2:151022870-151022885 chr2:151022871-151022884
48	MAX	chr2:151022665-151023434	K562	blood:	n/a	n/a
49	ATF3	chr2:151022648-151023351	A549	lung:	n/a	n/a
50	GATA3	chr2:151022651-151023290	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:151015971..151018361-chr2:151021107..151023162,2	K562	blood:
2	chr2:151018984..151021461-chr2:151021617..151024029,2	K562	blood:
3	chr2:151021749..151023909-chr2:151069571..151071445,2	MCF-7	breast:
4	chr2:151020603..151025476-chr2:151341674..151344465,7	MCF-7	breast:
5	chr2:151022613..151024999-chr2:151332492..151334061,2	MCF-7	breast:
6	chr2:151022947..151025702-chr2:151341739..151344961,4	MCF-7	breast:
7	chr2:150848914..150851850-chr2:151022945..151025102,2	MCF-7	breast:
8	chr2:151018212..151020426-chr2:151020566..151023225,3	MCF-7	breast:
9	chr2:151015440..151017637-chr2:151020964..151024352,3	MCF-7	breast:
10	chr2:150988564..150990849-chr2:151022615..151025266,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230645	TF binding region
ENSG00000115963	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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	nsv1005441	chr2:150457624-151060247	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv995119	chr2:150556150-151294696	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1001838	chr2:150819672-151745876	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv535980	chr2:150819672-151745876	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv469524	chr2:150927500-151076920	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv834412	chr2:151014270-151116638	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv583294	chr2:151022044-151037893	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151013400-151023800	Weak transcription	Fetal Brain Male	brain
2	chr2:151017200-151024000	Weak transcription	NHDF-Ad	bronchial
3	chr2:151021600-151023200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:151021800-151023200	Enhancers	Stomach Smooth Muscle	stomach
5	chr2:151021800-151023400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr2:151021800-151023400	Enhancers	Colon Smooth Muscle	Colon
7	chr2:151021800-151026200	Enhancers	NH-A	brain
8	chr2:151021800-151026800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:151022000-151023600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:151022200-151026000	Enhancers	HMEC	breast
11	chr2:151022200-151026400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:151022200-151026400	Enhancers	Osteobl	bone
13	chr2:151022400-151023600	Flanking Active TSS	A549	lung
14	chr2:151022600-151023200	Enhancers	Fetal Muscle Leg	muscle
15	chr2:151022600-151023200	Enhancers	Pancreas	Pancrea
16	chr2:151022600-151023200	Enhancers	Rectal Smooth Muscle	rectum
17	chr2:151022600-151023200	Flanking Active TSS	Hela-S3	cervix
18	chr2:151022600-151023200	Enhancers	NHLF	lung
19	chr2:151022600-151023400	Enhancers	Brain Germinal Matrix	brain
20	chr2:151022600-151024800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:151022600-151025400	Enhancers	HUVEC	blood vessel
22	chr2:151022600-151025400	Enhancers	NHEK	skin
23	chr2:151022600-151025800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:151022600-151026400	Enhancers	Muscle Satellite Cultured Cells	--
25	chr2:151022800-151023200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:151022800-151023200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:151022800-151023200	Enhancers	Aorta	Aorta
28	chr2:151022800-151023200	Enhancers	Esophagus	oesophagus
29	chr2:151022800-151023200	Enhancers	Fetal Lung	lung
30	chr2:151022800-151023200	Enhancers	Lung	lung
31	chr2:151022800-151023200	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr2:151022800-151023200	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr2:151022800-151023200	Enhancers	HSMM	muscle
34	chr2:151022800-151023200	Enhancers	HSMMtube	muscle
35	chr2:151022800-151023400	Flanking Active TSS	K562	blood
36	chr2:151022800-151023600	Enhancers	Adipose Nuclei	Adipose
37	chr2:151023000-151023200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:151023000-151023400	Flanking Active TSS	Liver	Liver
39	chr2:151023000-151023400	Enhancers	Fetal Stomach	stomach
40	chr2:151023000-151023600	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr2:151023000-151024000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:151023000-151024000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:151023000-151024200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr2:151023000-151024200	Weak transcription	Stomach Mucosa	stomach

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