Variant report

Variant	nsv946510
Chromosome Location	chr1:174811249-174819547
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	ARID3A	chr1:174818480-174818752	K562	blood:	n/a	n/a
2	ATF2	chr1:174810860-174811256	GM12878	blood:	n/a	n/a
3	EP300	chr1:174818471-174818771	K562	blood:	n/a	n/a
4	EP300	chr1:174818378-174818634	GM12878	blood:	n/a	n/a
5	FOS	chr1:174818362-174818721	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr1:174818464-174818640	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr1:174818407-174818767	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr1:174818402-174818707	MCF10A-Er-Src	breast:	n/a	n/a
9	FOXA1	chr1:174817830-174817961	HepG2	liver:	n/a	n/a
10	FOXA2	chr1:174817668-174818054	A549	lung:	n/a	n/a
11	FOXA2	chr1:174817575-174818284	A549	lung:	n/a	n/a
12	FOXM1	chr1:174810864-174811355	GM12878	blood:	n/a	n/a
13	FOXM1	chr1:174810777-174811330	GM12878	blood:	n/a	n/a
14	HEY1	chr1:174818283-174818495	K562	blood:	n/a	n/a
15	HEY1	chr1:174817867-174818029	K562	blood:	n/a	n/a
16	HEY1	chr1:174818271-174818539	K562	blood:	n/a	n/a
17	IRF1	chr1:174818258-174818797	K562	blood:	n/a	chr1:174818406-174818423 chr1:174818412-174818429 chr1:174818412-174818426 chr1:174818412-174818433 chr1:174818455-174818476 chr1:174818418-174818432 chr1:174818511-174818528 chr1:174818411-174818422
18	IRF1	chr1:174818264-174819024	K562	blood:	n/a	chr1:174818406-174818423 chr1:174818412-174818429 chr1:174818412-174818426 chr1:174818412-174818433 chr1:174818455-174818476 chr1:174818418-174818432 chr1:174818511-174818528 chr1:174818411-174818422
19	IRF1	chr1:174818369-174818758	K562	blood:	n/a	chr1:174818406-174818423 chr1:174818412-174818429 chr1:174818412-174818426 chr1:174818412-174818433 chr1:174818455-174818476 chr1:174818418-174818432 chr1:174818511-174818528 chr1:174818411-174818422
20	JUN	chr1:174818528-174818587	K562	blood:	n/a	n/a
21	JUND	chr1:174818370-174818676	K562	blood:	n/a	n/a
22	MAFF	chr1:174818449-174818748	K562	blood:	n/a	n/a
23	MAFK	chr1:174818586-174818592	HepG2	liver:	n/a	n/a
24	MAFK	chr1:174818450-174818710	K562	blood:	n/a	n/a
25	MAX	chr1:174818287-174818584	A549	lung:	n/a	n/a
26	MEF2A	chr1:174810814-174811335	GM12878	blood:	n/a	chr1:174811223-174811244 chr1:174811312-174811333 chr1:174811228-174811242
27	MEF2A	chr1:174818358-174818766	K562	blood:	n/a	chr1:174818536-174818550 chr1:174818535-174818550 chr1:174818398-174818406
28	MEF2A	chr1:174810783-174811389	GM12878	blood:	n/a	chr1:174811223-174811244 chr1:174811312-174811333 chr1:174811228-174811242
29	MEF2C	chr1:174810797-174811367	GM12878	blood:	n/a	chr1:174811223-174811244 chr1:174811312-174811333 chr1:174811088-174811103 chr1:174811228-174811242
30	MTA3	chr1:174810952-174811269	GM12878	blood:	n/a	n/a
31	MXI1	chr1:174818602-174818765	K562	blood:	n/a	n/a
32	NFATC1	chr1:174810877-174811276	GM12878	blood:	n/a	n/a
33	NFIC	chr1:174810750-174811398	GM12878	blood:	n/a	n/a
34	NFIC	chr1:174810787-174811320	GM12878	blood:	n/a	n/a
35	POLR2A	chr1:174817882-174818009	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr1:174818201-174818418	K562	blood:	n/a	n/a
37	POLR2A	chr1:174818293-174818527	K562	blood:	n/a	n/a
38	POLR2A	chr1:174817952-174818382	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr1:174817863-174817974	ProgFib	skin:	n/a	n/a
40	POLR2A	chr1:174811866-174811888	ProgFib	skin:	n/a	n/a
41	POLR2A	chr1:174817786-174817974	K562	blood:	n/a	n/a
42	RUNX3	chr1:174810906-174811291	GM12878	blood:	n/a	n/a
43	RUNX3	chr1:174810790-174811361	GM12878	blood:	n/a	n/a
44	SETDB1	chr1:174818363-174818688	U2OS	brain:	n/a	n/a
45	SRF	chr1:174817581-174817680	GM12878	blood:	n/a	n/a
46	STAT3	chr1:174818481-174818778	MCF10A-Er-Src	breast:	n/a	n/a
47	STAT5A	chr1:174810885-174811265	GM12878	blood:	n/a	chr1:174811016-174811023 chr1:174810993-174811004
48	TAF1	chr1:174818143-174818547	A549	lung:	n/a	n/a
49	TAF1	chr1:174818285-174818511	K562	blood:	n/a	n/a
50	TBP	chr1:174818284-174818637	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:174818265..174820720-chr1:174969337..174970845,2	K562	blood:
2	chr1:174810056..174811969-chr1:174966210..174968359,2	K562	blood:

Variant related genes	Relation type
NDUFAF4P4	TF binding region
ENSG00000116161	chromatin interactions

Extended variants
information (count: 194 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:194 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34058566	chr1:174811251-174811252	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs533422092	chr1:174811265-174811266	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs192304148	chr1:174811299-174811300	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs181524745	chr1:174811301-174811302	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs568108574	chr1:174811303-174811304	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs55721012	chr1:174811338-174811339	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs187052854	chr1:174811349-174811350	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs548295867	chr1:174811417-174811418	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs568194558	chr1:174811446-174811447	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs537167114	chr1:174811449-174811450	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs549781149	chr1:174811453-174811454	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs371907052	chr1:174811469-174811470	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs80325973	chr1:174811514-174811515	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs116534048	chr1:174811547-174811548	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs539307914	chr1:174811568-174811569	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs191093872	chr1:174811632-174811633	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs115907502	chr1:174811648-174811649	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs2187562	chr1:174811651-174811652	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs138992500	chr1:174811672-174811673	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs531475810	chr1:174811701-174811702	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs373682136	chr1:174811708-174811709	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs544676280	chr1:174811709-174811710	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs544313538	chr1:174811732-174811733	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs147048219	chr1:174811762-174811763	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs577970607	chr1:174811810-174811811	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs55957201	chr1:174811884-174811885	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs540567805	chr1:174811902-174811903	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs75036454	chr1:174811911-174811912	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs182806608	chr1:174811930-174811931	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs186767323	chr1:174811963-174811964	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs148110762	chr1:174811964-174811965	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs530580912	chr1:174812006-174812007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550699374	chr1:174812017-174812018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs141909271	chr1:174812048-174812049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs75476292	chr1:174812060-174812061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs539723508	chr1:174812067-174812068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs556566326	chr1:174812084-174812085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566787997	chr1:174812096-174812097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535404389	chr1:174812113-174812114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs527304648	chr1:174812131-174812132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs568718760	chr1:174812161-174812162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs537899421	chr1:174812180-174812181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs190040158	chr1:174812222-174812223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375565407	chr1:174812234-174812235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540656141	chr1:174812248-174812249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182316170	chr1:174812272-174812273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574241395	chr1:174812276-174812277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543353632	chr1:174812293-174812294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs56291253	chr1:174812326-174812327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575004002	chr1:174812363-174812364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	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
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	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
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	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
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174782200-174813000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr1:174796600-174833400	Weak transcription	Primary B cells from cord blood	blood
3	chr1:174808200-174812200	Enhancers	HSMM	muscle
4	chr1:174810800-174811800	Enhancers	GM12878-XiMat	blood
5	chr1:174810800-174812000	Enhancers	HSMMtube	muscle
6	chr1:174811000-174811600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr1:174811000-174812000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:174811200-174811600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr1:174818200-174818400	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr1:174818200-174818400	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr1:174818200-174818400	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr1:174818200-174818400	Active TSS	K562	blood
13	chr1:174818200-174818600	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr1:174818200-174818600	Active TSS	Placenta	Placenta
15	chr1:174818200-174818600	Active TSS	A549	lung
16	chr1:174818200-174818800	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr1:174818200-174828000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr1:174818400-174818600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr1:174818400-174818600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr1:174818400-174818600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr1:174818400-174818600	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr1:174818400-174818600	Flanking Active TSS	K562	blood
23	chr1:174818400-174818800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr1:174818400-174818800	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr1:174818400-174818800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:174818400-174818800	Active TSS	Rectal Mucosa Donor 31	rectum
27	chr1:174818400-174818800	Active TSS	NHEK	skin
28	chr1:174818400-174819000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:174818600-174818800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr1:174818600-174818800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr1:174818600-174818800	Active TSS	K562	blood
32	chr1:174818600-174819000	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr1:174818600-174819000	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr1:174818600-174819400	ZNF genes & repeats	A549	lung
35	chr1:174818800-174819000	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr1:174818800-174819000	Flanking Active TSS	K562	blood
37	chr1:174818800-174819400	Enhancers	NHEK	skin
38	chr1:174818800-174820000	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr1:174819000-174819200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr1:174819000-174819200	Enhancers	Aorta	Aorta
41	chr1:174819000-174819200	Enhancers	K562	blood
42	chr1:174819000-174819400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:174819000-174819400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:174819200-174819600	Enhancers	Left Ventricle	heart
45	chr1:174819200-174824400	Weak transcription	Aorta	Aorta
46	chr1:174819200-174843600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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