Variant report

Variant	nsv975627
Chromosome Location	chr12:32859915-32876718
allele	n/a
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	BATF	chr12:32868647-32868891	GM12878	blood:	n/a	n/a
2	CEBPB	chr12:32864598-32864893	IMR90	lung:	n/a	chr12:32864767-32864778
3	CEBPB	chr12:32864702-32864904	K562	blood:	n/a	chr12:32864767-32864778
4	CEBPB	chr12:32864711-32864911	HepG2	liver:	n/a	chr12:32864767-32864778
5	CEBPB	chr12:32864675-32864910	A549	lung:	n/a	chr12:32864767-32864778
6	E2F4	chr12:32872131-32872374	MCF10A-Er-Src	breast:	n/a	n/a
7	E2F4	chr12:32862060-32862246	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr12:32871834-32872261	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr12:32871813-32872397	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr12:32871908-32872357	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr12:32871806-32872385	MCF10A-Er-Src	breast:	n/a	n/a
12	GATA3	chr12:32871663-32871774	SH-SY5Y	brain:	n/a	n/a
13	IRF1	chr12:32875476-32875559	K562	blood:	n/a	n/a
14	JUND	chr12:32873821-32874058	HepG2	liver:	n/a	n/a
15	MAFK	chr12:32861440-32861699	HepG2	liver:	n/a	chr12:32861582-32861599
16	MAFK	chr12:32861444-32861750	HepG2	liver:	n/a	chr12:32861582-32861599
17	MAFK	chr12:32861488-32861710	IMR90	lung:	n/a	chr12:32861582-32861599
18	MYC	chr12:32869328-32869392	MCF-7	breast:	n/a	n/a
19	MYC	chr12:32871845-32872262	MCF10A-Er-Src	breast:	n/a	n/a
20	MYC	chr12:32871849-32872386	MCF10A-Er-Src	breast:	n/a	n/a
21	NFIC	chr12:32866767-32867156	GM12878	blood:	n/a	n/a
22	NRF1	chr12:32865169-32865177	GM12878	blood:	n/a	n/a
23	PAX5	chr12:32866821-32867024	GM12878	blood:	n/a	chr12:32866929-32866946
24	POLR2A	chr12:32868092-32868094	A549	lung:	n/a	n/a
25	POLR2A	chr12:32866918-32866983	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr12:32875409-32875490	K562	blood:	n/a	n/a
27	POLR2A	chr12:32871802-32872120	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr12:32866838-32866951	ProgFib	skin:	n/a	n/a
29	POLR2A	chr12:32869310-32869520	Gliobla	brain:	n/a	n/a
30	POLR2A	chr12:32867874-32867909	A549	lung:	n/a	n/a
31	POLR2A	chr12:32874630-32874907	HepG2	liver:	n/a	n/a
32	POLR2A	chr12:32860778-32860830	MCF-7	breast:	n/a	n/a
33	POLR2A	chr12:32875010-32875080	K562	blood:	n/a	n/a
34	POLR2A	chr12:32872691-32872701	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr12:32871202-32871232	A549	lung:	n/a	n/a
36	POLR2A	chr12:32865031-32865209	GM12878	blood:	n/a	n/a
37	POLR2A	chr12:32871906-32872106	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr12:32863614-32863623	ProgFib	skin:	n/a	n/a
39	POLR2A	chr12:32860700-32860860	A549	lung:	n/a	n/a
40	POLR2A	chr12:32868600-32868644	HepG2	liver:	n/a	n/a
41	POLR2A	chr12:32868373-32868503	HepG2	liver:	n/a	n/a
42	POLR2A	chr12:32863419-32863609	ProgFib	skin:	n/a	n/a
43	POLR2A	chr12:32863628-32863637	ProgFib	skin:	n/a	n/a
44	RUNX3	chr12:32859500-32859941	GM12878	blood:	n/a	n/a
45	STAT3	chr12:32871610-32872788	MCF10A-Er-Src	breast:	n/a	chr12:32872487-32872498
46	STAT3	chr12:32871856-32872706	MCF10A-Er-Src	breast:	n/a	chr12:32872487-32872498
47	STAT3	chr12:32871689-32872493	MCF10A-Er-Src	breast:	n/a	n/a
48	STAT3	chr12:32871798-32872455	MCF10A-Er-Src	breast:	n/a	n/a
49	USF1	chr12:32866514-32866737	H1-hESC	embryonic stem cell:	n/a	n/a
50	ZNF384	chr12:32865556-32865827	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:32862863..32865204-chr12:32866843..32869062,2	MCF-7	breast:
2	chr12:32861717..32863753-chr12:32878554..32881084,2	K562	blood:
3	chr12:32866561..32868248-chr12:32873002..32875200,2	K562	blood:
4	chr12:32866561..32868248-chr12:32873002..32875200,2	K562	blood:
5	chr12:32862863..32865204-chr12:32866843..32869062,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000201563	TF binding region
DNM1L	TF binding region
ENSG00000257511	chromatin interactions

Extended variants
information (count: 602 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:602 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564588842	chr12:32859915-32859916	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs552443055	chr12:32859928-32859929	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs537594272	chr12:32859954-32859955	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs116484983	chr12:32859966-32859967	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548832218	chr12:32859975-32859976	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs140508140	chr12:32860012-32860013	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570002436	chr12:32860094-32860095	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549240545	chr12:32860165-32860166	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531035182	chr12:32860242-32860243	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200798226	chr12:32860265-32860266	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2272238	chr12:32860302-32860303	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs374173514	chr12:32860335-32860336	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570521342	chr12:32860338-32860339	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141185042	chr12:32860343-32860344	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368167689	chr12:32860368-32860369	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539112729	chr12:32860458-32860459	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538685746	chr12:32860483-32860484	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571200392	chr12:32860671-32860672	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552940547	chr12:32860683-32860684	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150419036	chr12:32860733-32860734	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs535769698	chr12:32860745-32860746	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs11833645	chr12:32860746-32860747	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs575542904	chr12:32860772-32860773	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs544384767	chr12:32860790-32860791	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs564080976	chr12:32860792-32860793	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs578057584	chr12:32860802-32860803	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs557099028	chr12:32860804-32860805	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs137982150	chr12:32860816-32860817	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs370756660	chr12:32860834-32860835	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs146487317	chr12:32860850-32860851	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs117497623	chr12:32860863-32860864	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575612830	chr12:32860889-32860890	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373970762	chr12:32860944-32860945	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549303993	chr12:32860986-32860987	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562835195	chr12:32861029-32861030	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141059290	chr12:32861081-32861082	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201929226	chr12:32861094-32861095	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368122029	chr12:32861191-32861192	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542672835	chr12:32861194-32861195	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187148179	chr12:32861270-32861271	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533059977	chr12:32861271-32861272	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546348286	chr12:32861276-32861277	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192891668	chr12:32861336-32861337	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554936944	chr12:32861392-32861393	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535424886	chr12:32861394-32861395	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184532964	chr12:32861409-32861410	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569176894	chr12:32861435-32861436	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189459745	chr12:32861535-32861536	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
49	rs557948476	chr12:32861544-32861545	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs192164877	chr12:32861579-32861580	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Chordoma	18071362	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:616 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32833200-32864000	Weak transcription	Esophagus	oesophagus
2	chr12:32833200-32864600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:32833400-32864000	Weak transcription	Thymus	Thymus
4	chr12:32833600-32861400	Weak transcription	Right Atrium	heart
5	chr12:32833600-32861800	Weak transcription	Fetal Thymus	thymus
6	chr12:32833800-32863000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr12:32834200-32864800	Weak transcription	Colon Smooth Muscle	Colon
8	chr12:32834200-32865000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr12:32834200-32871400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr12:32834400-32861600	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr12:32834400-32864000	Weak transcription	Primary T cells from cord blood	blood
12	chr12:32834400-32864600	Weak transcription	Fetal Brain Male	brain
13	chr12:32834800-32864200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr12:32835000-32864000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr12:32835000-32864000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr12:32835000-32874600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr12:32835000-32902600	Weak transcription	Gastric	stomach
18	chr12:32835000-32902800	Weak transcription	Small Intestine	intestine
19	chr12:32835400-32867600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:32837200-32863200	Weak transcription	Osteobl	bone
21	chr12:32838600-32862200	Weak transcription	Fetal Lung	lung
22	chr12:32841800-32864200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr12:32842000-32864000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr12:32842400-32874400	Weak transcription	Lung	lung
25	chr12:32843800-32864200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr12:32845600-32864000	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr12:32845800-32864000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr12:32846000-32864200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr12:32846800-32871400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr12:32847200-32863800	Weak transcription	Psoas Muscle	Psoas
31	chr12:32848000-32862000	Weak transcription	HSMM	muscle
32	chr12:32848600-32864000	Weak transcription	HSMMtube	muscle
33	chr12:32848800-32862000	Weak transcription	Duodenum Mucosa	Duodenum
34	chr12:32848800-32864000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr12:32848800-32869400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:32849000-32862000	Weak transcription	Fetal Intestine Large	intestine
37	chr12:32849400-32864000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr12:32849400-32864000	Weak transcription	HepG2	liver
39	chr12:32849400-32867800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr12:32849800-32864000	Weak transcription	Fetal Muscle Leg	muscle
41	chr12:32851200-32862400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr12:32851400-32862000	Weak transcription	Brain Hippocampus Middle	brain
43	chr12:32851400-32862000	Weak transcription	A549	lung
44	chr12:32851400-32863400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr12:32851400-32863800	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr12:32851400-32864000	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr12:32851400-32874600	Weak transcription	Right Ventricle	heart
48	chr12:32851400-32906800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr12:32851600-32863800	Weak transcription	Fetal Brain Female	brain
50	chr12:32851600-32864000	Weak transcription	Brain Cingulate Gyrus	brain

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