Variant report

Variant	nsv946565
Chromosome Location	chr1:197102791-197108233
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	CEBPB	chr1:197106586-197106785	Hela-S3	cervix:	n/a	n/a
2	E2F4	chr1:197104671-197104698	MCF10A-Er-Src	breast:	n/a	n/a
3	E2F4	chr1:197106588-197106750	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr1:197106451-197106819	MCF10A-Er-Src	breast:	n/a	chr1:197106630-197106639 chr1:197106630-197106640 chr1:197106630-197106640
5	FOS	chr1:197106438-197106808	MCF10A-Er-Src	breast:	n/a	chr1:197106630-197106639 chr1:197106630-197106640 chr1:197106630-197106640
6	FOS	chr1:197106462-197106816	MCF10A-Er-Src	breast:	n/a	chr1:197106630-197106639 chr1:197106630-197106640 chr1:197106630-197106640
7	FOS	chr1:197106447-197106803	MCF10A-Er-Src	breast:	n/a	chr1:197106630-197106639 chr1:197106630-197106640 chr1:197106630-197106640
8	FOSL1	chr1:197106529-197106828	HCT-116	colon:	n/a	chr1:197106630-197106639 chr1:197106630-197106640 chr1:197106630-197106640
9	GATA3	chr1:197105272-197105304	SH-SY5Y	brain:	n/a	n/a
10	GTF2F1	chr1:197104952-197105005	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAFF	chr1:197103511-197103778	HepG2	liver:	n/a	n/a
12	MAFK	chr1:197103508-197103811	HepG2	liver:	n/a	n/a
13	MAFK	chr1:197103561-197103814	HepG2	liver:	n/a	n/a
14	MAX	chr1:197106614-197106768	Hela-S3	cervix:	n/a	n/a
15	MYC	chr1:197107605-197107607	MCF-7	breast:	n/a	n/a
16	MYC	chr1:197106585-197106769	MCF10A-Er-Src	breast:	n/a	n/a
17	MYC	chr1:197106630-197106879	MCF-7	breast:	n/a	n/a
18	MYC	chr1:197107621-197107675	MCF-7	breast:	n/a	n/a
19	MYC	chr1:197107528-197107603	MCF-7	breast:	n/a	n/a
20	MYC	chr1:197106661-197106800	MCF-7	breast:	n/a	n/a
21	MYC	chr1:197107520-197107523	MCF-7	breast:	n/a	n/a
22	PBX3	chr1:197106385-197106870	SK-N-SH	brain:	n/a	n/a
23	PBX3	chr1:197106411-197106865	SK-N-SH	brain:	n/a	n/a
24	POLR2A	chr1:197108217-197108223	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr1:197106628-197106903	MCF-7	breast:	n/a	n/a
26	POLR2A	chr1:197107406-197107676	HepG2	liver:	n/a	n/a
27	POLR2A	chr1:197104923-197105109	K562	blood:	n/a	n/a
28	POLR2A	chr1:197104853-197105054	MCF-7	breast:	n/a	n/a
29	POLR2A	chr1:197103410-197103545	MCF-7	breast:	n/a	n/a
30	POLR2A	chr1:197104869-197104879	MCF-7	breast:	n/a	n/a
31	POLR2A	chr1:197106731-197106804	GM12878	blood:	n/a	n/a
32	POLR2A	chr1:197106631-197106813	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr1:197107029-197107615	K562	blood:	n/a	n/a
34	POLR2A	chr1:197107330-197107765	K562	blood:	n/a	n/a
35	POLR2A	chr1:197106516-197106936	K562	blood:	n/a	n/a
36	POLR2A	chr1:197107596-197107632	A549	lung:	n/a	n/a
37	POLR2A	chr1:197106654-197106663	A549	lung:	n/a	n/a
38	POLR2A	chr1:197107521-197107593	A549	lung:	n/a	n/a
39	POLR2A	chr1:197103411-197103524	MCF-7	breast:	n/a	n/a
40	POLR2A	chr1:197106565-197106862	GM12891	blood:	n/a	n/a
41	POLR2A	chr1:197106629-197106915	Gliobla	brain:	n/a	n/a
42	POLR2A	chr1:197107500-197107564	Gliobla	brain:	n/a	n/a
43	POLR2A	chr1:197107569-197107601	Gliobla	brain:	n/a	n/a
44	POLR2A	chr1:197107423-197107732	MCF-7	breast:	n/a	n/a
45	POLR2A	chr1:197106567-197106852	GM12878	blood:	n/a	n/a
46	POLR2A	chr1:197106565-197106896	MCF-7	breast:	n/a	n/a
47	POLR2A	chr1:197106624-197106682	K562	blood:	n/a	n/a
48	POLR2A	chr1:197107499-197107683	MCF-7	breast:	n/a	n/a
49	POLR2A	chr1:197107412-197107726	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr1:197106560-197106843	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:197098436..197100309-chr1:197101264..197103559,2	K562	blood:
2	chr1:197100050..197103962-chr1:197110434..197115621,7	K562	blood:
3	chr1:197102908..197105277-chr1:197113696..197116665,2	MCF-7	breast:
4	chr1:197075217..197076795-chr1:197101256..197102905,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZBTB41-2	chr1:197107878-197108437	NONHSAT008613

Variant related genes	Relation type
ASPM	TF binding region
ENSG00000066279	chromatin interactions

Extended variants
information (count: 232 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:232 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188590651	chr1:197102811-197102812	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs180989890	chr1:197102812-197102813	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs4915345	chr1:197102839-197102840	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs557556210	chr1:197102907-197102908	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs41310911	chr1:197102926-197102927	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs78684793	chr1:197102936-197102937	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs574058549	chr1:197102954-197102955	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs141380371	chr1:197102961-197102962	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs528691920	chr1:197102974-197102975	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs563644835	chr1:197102992-197102993	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs185274204	chr1:197103020-197103021	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs201492897	chr1:197103027-197103028	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs7542170	chr1:197103063-197103064	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs150187456	chr1:197103074-197103075	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs112129462	chr1:197103094-197103095	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs199570856	chr1:197103172-197103173	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs564467092	chr1:197103173-197103174	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs114569274	chr1:197103183-197103184	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs547713280	chr1:197103215-197103216	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs377405946	chr1:197103269-197103270	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs34293420	chr1:197103282-197103283	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs182400660	chr1:197103305-197103306	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs539548669	chr1:197103356-197103357	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs529900476	chr1:197103374-197103375	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs34258529	chr1:197103380-197103381	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs67280729	chr1:197103381-197103382	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs11424698	chr1:197103382-197103383	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs113363710	chr1:197103383-197103384	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs7553977	chr1:197103384-197103385	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs398049953	chr1:197103392-197103393	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs7542477	chr1:197103393-197103394	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs375998678	chr1:197103414-197103415	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs569673474	chr1:197103416-197103417	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs7519207	chr1:197103418-197103419	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs7556471	chr1:197103440-197103441	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs537103001	chr1:197103467-197103468	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs536381447	chr1:197103504-197103505	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs200950874	chr1:197103554-197103555	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs202115543	chr1:197103555-197103556	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs72515450	chr1:197103562-197103563	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs397747519	chr1:197103563-197103564	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs555932338	chr1:197103566-197103567	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs558310151	chr1:197103573-197103574	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs540210475	chr1:197103575-197103576	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs114307259	chr1:197103576-197103577	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs555732447	chr1:197103593-197103594	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs573895157	chr1:197103600-197103601	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs187003130	chr1:197103603-197103604	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs114786366	chr1:197103609-197103610	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs191929563	chr1:197103633-197103634	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:165 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197052200-197106600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:197052200-197114200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:197054200-197113600	Weak transcription	Fetal Kidney	kidney
4	chr1:197055000-197114200	Weak transcription	Primary B cells from cord blood	blood
5	chr1:197071000-197105400	Strong transcription	Dnd41	blood
6	chr1:197071800-197104600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr1:197072600-197104600	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr1:197072600-197107400	Weak transcription	Fetal Intestine Small	intestine
9	chr1:197073000-197104000	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr1:197073000-197115000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr1:197074000-197115000	Weak transcription	Fetal Brain Male	brain
12	chr1:197077000-197114200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:197080600-197105400	Strong transcription	Fetal Thymus	thymus
14	chr1:197081200-197103000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr1:197083600-197108000	Strong transcription	HUVEC	blood vessel
16	chr1:197084400-197106600	Weak transcription	Fetal Stomach	stomach
17	chr1:197085800-197109600	Weak transcription	Brain Germinal Matrix	brain
18	chr1:197085800-197111000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:197089200-197105200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:197089800-197105200	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr1:197089800-197108400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:197090000-197110800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr1:197091000-197106600	Weak transcription	Fetal Muscle Trunk	muscle
24	chr1:197093600-197104600	Strong transcription	K562	blood
25	chr1:197093800-197108400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr1:197095800-197114400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr1:197096200-197105400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:197096400-197106600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr1:197097800-197106600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr1:197099200-197109600	Weak transcription	HepG2	liver
31	chr1:197100200-197103600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:197100200-197104200	Weak transcription	Right Atrium	heart
33	chr1:197100200-197105200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr1:197100200-197106600	Weak transcription	Thymus	Thymus
35	chr1:197100400-197109000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:197100400-197109600	Weak transcription	NHLF	lung
37	chr1:197100400-197112800	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr1:197100400-197113600	Weak transcription	HSMM	muscle
39	chr1:197100600-197108200	Weak transcription	Fetal Heart	heart
40	chr1:197100600-197111200	Weak transcription	NH-A	brain
41	chr1:197100600-197113000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr1:197100800-197102800	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr1:197100800-197107400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:197100800-197114200	Weak transcription	Fetal Intestine Large	intestine
45	chr1:197101000-197103000	Strong transcription	NHDF-Ad	bronchial
46	chr1:197101000-197103200	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr1:197101000-197104800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr1:197101000-197104800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr1:197101000-197107200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:197101000-197107600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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