Variant report

Variant	nsv4094
Chromosome Location	chr3:162691116-162743249
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	BRCA1	chr3:162717002-162717061	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr3:162695972-162696288	IMR90	lung:	n/a	chr3:162696130-162696139 chr3:162696130-162696139 chr3:162696130-162696139
3	CEBPB	chr3:162696021-162696193	K562	blood:	n/a	chr3:162696130-162696139 chr3:162696130-162696139 chr3:162696130-162696139
4	CEBPB	chr3:162729522-162729600	A549	lung:	n/a	n/a
5	CEBPB	chr3:162729220-162729874	MCF-7	breast:	n/a	n/a
6	CEBPB	chr3:162695846-162696372	A549	lung:	n/a	chr3:162696130-162696139 chr3:162696130-162696139 chr3:162696130-162696139
7	CEBPB	chr3:162695952-162696294	A549	lung:	n/a	chr3:162696130-162696139 chr3:162696130-162696139 chr3:162696130-162696139
8	CEBPB	chr3:162695938-162696308	MCF-7	breast:	n/a	chr3:162696130-162696139 chr3:162696130-162696139 chr3:162696130-162696139
9	CEBPB	chr3:162729049-162729851	MCF-7	breast:	n/a	n/a
10	CEBPB	chr3:162695893-162696380	MCF-7	breast:	n/a	chr3:162696130-162696139 chr3:162696130-162696139 chr3:162696130-162696139
11	CEBPB	chr3:162695982-162696258	H1-hESC	embryonic stem cell:	n/a	chr3:162696130-162696139 chr3:162696130-162696139 chr3:162696130-162696139
12	CEBPB	chr3:162695964-162696261	HepG2	liver:	n/a	chr3:162696130-162696139 chr3:162696130-162696139 chr3:162696130-162696139
13	CEBPB	chr3:162711839-162712097	IMR90	lung:	n/a	chr3:162711927-162711938
14	CEBPB	chr3:162711790-162712125	HepG2	liver:	n/a	chr3:162711927-162711938
15	CEBPB	chr3:162729092-162729733	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr3:162696009-162696307	A549	lung:	n/a	chr3:162696130-162696139 chr3:162696130-162696139 chr3:162696130-162696139
17	CEBPB	chr3:162729383-162729666	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr3:162697458-162697485	GM20000	blood:	n/a	n/a
19	CTCF	chr3:162742000-162742150	HRPEpiC	eye:	n/a	n/a
20	CTCF	chr3:162707965-162708006	MCF-7	breast:	n/a	n/a
21	CTCF	chr3:162715960-162716110	HA-sp	spinal cord:	n/a	n/a
22	CUX1	chr3:162730188-162730192	K562	blood:	n/a	n/a
23	E2F4	chr3:162742908-162743235	MCF10A-Er-Src	breast:	n/a	n/a
24	E2F4	chr3:162739552-162739907	MCF10A-Er-Src	breast:	n/a	n/a
25	EGR1	chr3:162729339-162729821	MCF-7	breast:	n/a	n/a
26	EP300	chr3:162710695-162710812	GM12878	blood:	n/a	n/a
27	EP300	chr3:162729410-162729811	T-47D	breast:	n/a	n/a
28	EP300	chr3:162729442-162729816	MCF-7	breast:	n/a	n/a
29	EP300	chr3:162710706-162710794	GM12878	blood:	n/a	n/a
30	EP300	chr3:162729337-162729872	MCF-7	breast:	n/a	chr3:162729395-162729409 chr3:162729394-162729408
31	EP300	chr3:162729436-162729796	T-47D	breast:	n/a	n/a
32	ESR1	chr3:162729405-162729760	T-47D	breast:	n/a	n/a
33	FOS	chr3:162733027-162733171	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr3:162695909-162696357	MCF10A-Er-Src	breast:	n/a	chr3:162696150-162696160
35	FOS	chr3:162695961-162696319	MCF10A-Er-Src	breast:	n/a	chr3:162696150-162696160
36	FOS	chr3:162695962-162696314	MCF10A-Er-Src	breast:	n/a	chr3:162696150-162696160
37	FOS	chr3:162695963-162696321	MCF10A-Er-Src	breast:	n/a	chr3:162696150-162696160
38	FOSL2	chr3:162695854-162696277	A549	lung:	n/a	chr3:162696150-162696160
39	FOSL2	chr3:162729335-162729780	MCF-7	breast:	n/a	n/a
40	FOSL2	chr3:162696065-162696217	A549	lung:	n/a	chr3:162696150-162696160
41	FOXA1	chr3:162729433-162729761	T-47D	breast:	n/a	n/a
42	FOXA1	chr3:162715777-162716022	A549	lung:	n/a	n/a
43	FOXA1	chr3:162729356-162729790	T-47D	breast:	n/a	n/a
44	GATA3	chr3:162729319-162729824	T-47D	breast:	n/a	n/a
45	GATA3	chr3:162729407-162729849	MCF-7	breast:	n/a	n/a
46	GATA3	chr3:162729079-162729877	MCF-7	breast:	n/a	n/a
47	GATA3	chr3:162729330-162729894	T-47D	breast:	n/a	n/a
48	GATA3	chr3:162729072-162729975	MCF-7	breast:	n/a	n/a
49	GATA3	chr3:162702490-162703025	MCF-7	breast:	n/a	n/a
50	GATA3	chr3:162715763-162716574	MCF-7	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:162705337-162705387	PANC-1	pancreas:	n/a
2	chr3:162705203-162705253	HCM	heart:	n/a
3	chr3:162705337-162705387	HEEpiC	esophagus:	n/a
4	chr3:162705203-162705253	GM19239	blood:	n/a
5	chr3:162705203-162705253	Jurkat	blood:	n/a
6	chr3:162705203-162705253	NB4	blood:	n/a
7	chr3:162705337-162705387	NH-A	brain:	n/a
8	chr3:162705427-162705477	HL-60	blood:	n/a
9	chr3:162705427-162705477	MCF10A-Er-Src	breast:	n/a
10	chr3:162705203-162705253	MCF10A-Er-Src	breast:	n/a
11	chr3:162705203-162705253	HMEC	breast:	n/a
12	chr3:162705427-162705477	SAEC	small airway:	n/a
13	chr3:162705337-162705387	GM12891	blood:	n/a
14	chr3:162705427-162705477	AG04449	skin:	fetal
15	chr3:162705427-162705477	K562	blood:	n/a
16	chr3:162705203-162705253	AG09309	skin:	n/a
17	chr3:162705337-162705387	NHBE	bronchial:	n/a
18	chr3:162705203-162705253	NHBE	bronchial:	n/a
19	chr3:162705427-162705477	PrEC	prostate:	n/a
20	chr3:162705427-162705477	HPAEpiC	pulmonary alveolar:	n/a
21	chr3:162705337-162705387	SK-N-MC	brain:	n/a
22	chr3:162705427-162705477	NB4	blood:	n/a
23	chr3:162705203-162705253	IMR90	lung:	fetal
24	chr3:162705427-162705477	A549	lung:	n/a
25	chr3:162705337-162705387	U87	brain:	n/a
26	chr3:162705427-162705477	HCT-116	colon:	n/a
27	chr3:162705427-162705477	Caco-2	colon:	n/a
28	chr3:162705203-162705253	U87	brain:	n/a
29	chr3:162705203-162705253	MCF-7	breast:	n/a
30	chr3:162705427-162705477	HepG2	liver:	n/a
31	chr3:162705337-162705387	HCPEpiC	choroid plexus:	n/a
32	chr3:162705337-162705387	PrEC	prostate:	n/a
33	chr3:162705203-162705253	GM12891	blood:	n/a
34	chr3:162705337-162705387	HUVEC	blood vessel:	n/a
35	chr3:162705203-162705253	A549	lung:	n/a
36	chr3:162705337-162705387	GM12878	blood:	n/a
37	chr3:162705337-162705387	AG10803	skin:	n/a
38	chr3:162705203-162705253	NT2-D1	testis:	n/a
39	chr3:162705427-162705477	GM12892	blood:	n/a
40	chr3:162705427-162705477	LNCaP	prostate:	n/a
41	chr3:162705203-162705253	SAEC	small airway:	n/a
42	chr3:162705427-162705477	PFSK-1	brain:	n/a
43	chr3:162705427-162705477	SK-N-SH_RA	brain:	n/a
44	chr3:162705203-162705253	SK-N-MC	brain:	n/a
45	chr3:162705337-162705387	RPTEC	kidney:	n/a
46	chr3:162705203-162705253	PFSK-1	brain:	n/a
47	chr3:162705427-162705477	GM06990	blood:	n/a
48	chr3:162705427-162705477	CMK	blood:	n/a
49	chr3:162705427-162705477	HCPEpiC	choroid plexus:	n/a
50	chr3:162705337-162705387	HCF	heart:	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:60627662..60628534-chr3:162740219..162740719,2	MCF-7	breast:
2	chr3:162692633..162695202-chr3:162700914..162703834,2	MCF-7	breast:
3	chr3:162730866..162732605-chr3:162732763..162734314,2	MCF-7	breast:
4	chr3:162695238..162696118-chr5:168564460..168564967,2	MCF-7	breast:
5	chr3:162692633..162695202-chr3:162700914..162703834,2	MCF-7	breast:
6	chr3:162730866..162732605-chr3:162732763..162734314,2	MCF-7	breast:
7	chr20:11421691..11422663-chr3:162694553..162695419,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000241168	TF binding region
ENSG00000241168	CpG island

Extended variants
information (count: 1139 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1139 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181623682	chr3:162691155-162691156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs576927307	chr3:162691202-162691203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs9866542	chr3:162691291-162691292	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs553202653	chr3:162691317-162691318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572763686	chr3:162691339-162691340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73025182	chr3:162691340-162691341	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs111582596	chr3:162691342-162691343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73025184	chr3:162691468-162691469	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs200803118	chr3:162691471-162691472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs137907582	chr3:162691480-162691481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186814564	chr3:162691507-162691508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540587682	chr3:162691544-162691545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370786563	chr3:162691551-162691552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560824588	chr3:162691579-162691580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7631917	chr3:162691581-162691582	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs549395869	chr3:162691607-162691608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569414902	chr3:162691660-162691661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563720548	chr3:162691661-162691662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552047900	chr3:162691696-162691697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs68141597	chr3:162691710-162691711	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs192171071	chr3:162691750-162691751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543737046	chr3:162691753-162691754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs16855106	chr3:162691755-162691756	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs539584094	chr3:162691769-162691770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553023799	chr3:162691770-162691771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182226587	chr3:162691799-162691800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575881708	chr3:162691849-162691850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs201409670	chr3:162691877-162691878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs201073856	chr3:162691878-162691879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs554954729	chr3:162691909-162691910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs7648102	chr3:162691919-162691920	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs543925902	chr3:162691920-162691921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557802747	chr3:162691929-162691930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs578135873	chr3:162691934-162691935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573193332	chr3:162691938-162691939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540800566	chr3:162691972-162691973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182519180	chr3:162691978-162691979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs529603414	chr3:162692062-162692063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs543302302	chr3:162692070-162692071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs73169690	chr3:162692080-162692081	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs565057046	chr3:162692092-162692093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs551598112	chr3:162692134-162692135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547061871	chr3:162692150-162692151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs34744290	chr3:162692165-162692166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs571697312	chr3:162692167-162692168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186838488	chr3:162692173-162692174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs34654788	chr3:162692208-162692209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550664253	chr3:162692219-162692220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12496047	chr3:162692256-162692257	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs566467906	chr3:162692257-162692258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162690200-162692200	Enhancers	Dnd41	blood
2	chr3:162691200-162691800	Enhancers	A549	lung
3	chr3:162691800-162695400	Weak transcription	A549	lung
4	chr3:162695400-162696200	Enhancers	A549	lung
5	chr3:162702200-162702600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr3:162702400-162702600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr3:162702400-162702800	Enhancers	Aorta	Aorta
8	chr3:162702400-162702800	Active TSS	Hela-S3	cervix
9	chr3:162702400-162703000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:162702600-162702800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
11	chr3:162702600-162703200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr3:162703200-162704800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
13	chr3:162704800-162707800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr3:162710600-162710800	Enhancers	Dnd41	blood
15	chr3:162710800-162711000	Weak transcription	Dnd41	blood
16	chr3:162711000-162713600	ZNF genes & repeats	Dnd41	blood
17	chr3:162713600-162714400	Weak transcription	Dnd41	blood
18	chr3:162714400-162714800	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr3:162714400-162715200	Enhancers	Dnd41	blood
20	chr3:162715200-162716400	Flanking Active TSS	Dnd41	blood
21	chr3:162715400-162716000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr3:162715400-162716200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:162715400-162716200	Enhancers	Colon Smooth Muscle	Colon
24	chr3:162715400-162716200	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr3:162715600-162715800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr3:162715600-162716000	Active TSS	Adipose Nuclei	Adipose
27	chr3:162715600-162716000	Active TSS	Aorta	Aorta
28	chr3:162715600-162716000	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr3:162715600-162716000	Active TSS	Stomach Smooth Muscle	stomach
30	chr3:162715600-162716200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr3:162715600-162716200	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr3:162715600-162716800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr3:162715800-162716000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr3:162715800-162716600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:162715800-162716600	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr3:162716000-162716200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr3:162716000-162716200	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr3:162716200-162716400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr3:162716200-162716600	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr3:162716400-162718000	Enhancers	Dnd41	blood
41	chr3:162724800-162725600	Enhancers	Dnd41	blood
42	chr3:162735400-162745200	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr3:162735600-162736400	Enhancers	Fetal Heart	heart
44	chr3:162736600-162737400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr3:162741000-162765600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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