Variant report

Variant	esv3349428
Chromosome Location	chr3:196168691-196197042
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:543)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:543 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:196170907-196171291	K562	blood:	n/a	n/a
2	ATF2	chr3:196190274-196190947	GM12878	blood:	n/a	n/a
3	ATF2	chr3:196189203-196190161	GM12878	blood:	n/a	n/a
4	ATF2	chr3:196166607-196168846	GM12878	blood:	n/a	n/a
5	ATF2	chr3:196189170-196190145	GM12878	blood:	n/a	n/a
6	ATF2	chr3:196168082-196168769	GM12878	blood:	n/a	n/a
7	ATF2	chr3:196184380-196184901	GM12878	blood:	n/a	n/a
8	ATF2	chr3:196190257-196191183	GM12878	blood:	n/a	n/a
9	BACH1	chr3:196170898-196171141	K562	blood:	n/a	n/a
10	BATF	chr3:196189700-196190403	GM12878	blood:	n/a	n/a
11	BATF	chr3:196168230-196168824	GM12878	blood:	n/a	n/a
12	BATF	chr3:196189100-196189356	GM12878	blood:	n/a	n/a
13	BATF	chr3:196189748-196190297	GM12878	blood:	n/a	n/a
14	BATF	chr3:196188679-196189012	GM12878	blood:	n/a	n/a
15	BATF	chr3:196196918-196197247	GM12878	blood:	n/a	n/a
16	BATF	chr3:196168336-196168728	GM12878	blood:	n/a	n/a
17	BATF	chr3:196187367-196187650	GM12878	blood:	n/a	n/a
18	BCL11A	chr3:196188742-196188983	GM12878	blood:	n/a	n/a
19	BCL11A	chr3:196189756-196190095	GM12878	blood:	n/a	n/a
20	BCL11A	chr3:196189740-196190468	GM12878	blood:	n/a	n/a
21	BCL3	chr3:196190271-196190621	GM12878	blood:	n/a	n/a
22	BCL3	chr3:196184517-196184856	GM12878	blood:	n/a	n/a
23	BCL3	chr3:196189498-196190140	GM12878	blood:	n/a	n/a
24	BCL3	chr3:196168267-196168737	GM12878	blood:	n/a	n/a
25	BCL3	chr3:196189498-196190146	GM12878	blood:	n/a	n/a
26	BCL3	chr3:196190277-196191028	GM12878	blood:	n/a	n/a
27	BCLAF1	chr3:196168250-196168789	GM12878	blood:	n/a	n/a
28	BCLAF1	chr3:196172224-196172568	GM12878	blood:	n/a	n/a
29	BCLAF1	chr3:196190372-196190732	GM12878	blood:	n/a	n/a
30	BCLAF1	chr3:196189523-196190139	GM12878	blood:	n/a	n/a
31	BHLHE40	chr3:196189794-196189980	GM12878	blood:	n/a	n/a
32	BHLHE40	chr3:196184642-196184751	GM12878	blood:	n/a	n/a
33	BHLHE40	chr3:196170953-196171063	K562	blood:	n/a	n/a
34	BRCA1	chr3:196172432-196172504	Hela-S3	cervix:	n/a	n/a
35	CBX3	chr3:196189668-196190313	K562	blood:	n/a	n/a
36	CCNT2	chr3:196170930-196170992	K562	blood:	n/a	n/a
37	CEBPB	chr3:196172279-196172467	K562	blood:	n/a	n/a
38	CEBPB	chr3:196177139-196177187	IMR90	lung:	n/a	chr3:196177162-196177173
39	CEBPB	chr3:196189001-196190681	GM12878	blood:	n/a	n/a
40	CEBPB	chr3:196177061-196177169	A549	lung:	n/a	n/a
41	CEBPB	chr3:196186813-196186929	K562	blood:	n/a	n/a
42	CEBPB	chr3:196185025-196185249	HepG2	liver:	n/a	chr3:196185155-196185168
43	CEBPB	chr3:196177115-196177226	Hela-S3	cervix:	n/a	chr3:196177162-196177173
44	CEBPB	chr3:196177008-196177342	MCF-7	breast:	n/a	chr3:196177162-196177173
45	CEBPB	chr3:196186762-196186917	H1-hESC	embryonic stem cell:	n/a	n/a
46	CEBPB	chr3:196177051-196177315	HepG2	liver:	n/a	chr3:196177162-196177173
47	CEBPB	chr3:196185079-196185231	K562	blood:	n/a	chr3:196185155-196185168
48	CHD2	chr3:196189668-196189868	GM12878	blood:	n/a	n/a
49	CHD2	chr3:196184651-196184767	GM12878	blood:	n/a	n/a
50	CHD2	chr3:196190753-196190850	GM12878	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:196157435..196160692-chr3:196169825..196172400,4	K562	blood:
2	chr3:196194808..196197230-chr3:196197915..196199968,2	K562	blood:
3	chr3:196192358..196194279-chr3:196199089..196201491,2	K562	blood:
4	chr3:196156891..196160692-chr3:196169421..196171747,4	K562	blood:
5	chr3:196063925..196066709-chr3:196169491..196172099,2	K562	blood:
6	chr3:195980112..195980674-chr3:196172002..196172990,2	K562	blood:
7	chr3:196192779..196196308-chr3:196197005..196200589,3	K562	blood:
8	chr3:195980475..195981134-chr3:196172324..196172888,2	MCF-7	breast:
9	chr3:196183704..196185237-chr3:196195046..196197867,2	K562	blood:
10	chr3:196169492..196171100-chr3:196172637..196174414,2	K562	blood:
11	chr3:196169492..196171100-chr3:196172637..196174414,2	K562	blood:
12	chr3:196183704..196185237-chr3:196195046..196197867,2	K562	blood:
13	chr3:196192779..196196308-chr3:196197005..196200589,3	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C3orf43-2	chr3:196195811-196197084	NONHSAT094343
2	lnc-C3orf43-2	chr3:196195811-196197773	NONHSAT094344
3	lnc-FBXO45-6	chr3:196172625-196173629	NONHSAT094338
4	lnc-FBXO45-4	chr3:196196865-196197996	NONHSAT094341
5	lnc-FBXO45-5	chr3:196176730-196179318	NONHSAT094339
6	lnc-FBXO45-4	chr3:196181233-196181272	NONHSAT094341

No data

Variant related genes	Relation type
ENSG00000273013	TF binding region
ENSG00000225240	TF binding region
ENSG00000163960	chromatin interactions
ENSG00000273331	chromatin interactions
ENSG00000225822	chromatin interactions
ENSG00000145107	chromatin interactions

Extended variants
information (count: 1290 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1290 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200790816	chr3:196168693-196168694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs189315788	chr3:196168709-196168710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181347780	chr3:196168719-196168720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537801058	chr3:196168724-196168725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186298708	chr3:196168758-196168759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555931417	chr3:196168763-196168764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574781177	chr3:196168862-196168863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542149157	chr3:196168863-196168864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560289660	chr3:196168895-196168896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs28773220	chr3:196168896-196168897	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs373284133	chr3:196168914-196168915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191608401	chr3:196168934-196168935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564560639	chr3:196168942-196168943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531761764	chr3:196168963-196168964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181499419	chr3:196168974-196168975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534643471	chr3:196168978-196168979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562101295	chr3:196169009-196169010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs150648673	chr3:196169033-196169034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548476905	chr3:196169041-196169042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs369400085	chr3:196169047-196169048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs527441369	chr3:196169059-196169060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552089493	chr3:196169070-196169071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs570523422	chr3:196169127-196169128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546301403	chr3:196169133-196169134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs186436215	chr3:196169135-196169136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs139677642	chr3:196169170-196169171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567743634	chr3:196169259-196169260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs535100904	chr3:196169261-196169262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs143607017	chr3:196169289-196169290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs572412490	chr3:196169333-196169334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs559317001	chr3:196169393-196169394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs146505861	chr3:196169394-196169395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs77042757	chr3:196169418-196169419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs113594564	chr3:196169443-196169444	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs190841810	chr3:196169460-196169461	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs183130297	chr3:196169471-196169472	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs543582543	chr3:196169482-196169483	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs375766363	chr3:196169615-196169616	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs529270961	chr3:196169625-196169626	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs186049927	chr3:196169651-196169652	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs139975216	chr3:196169694-196169695	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs143534808	chr3:196169695-196169696	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs552338573	chr3:196169709-196169710	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs75946670	chr3:196169783-196169784	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs77780803	chr3:196169794-196169795	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs77518322	chr3:196169800-196169801	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs77734178	chr3:196169814-196169815	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs11919561	chr3:196169837-196169838	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs11918071	chr3:196169838-196169839	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs571999196	chr3:196169877-196169878	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

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	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
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
Autism	19653912	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Cervical cancer	21062161	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Austim spectrum disorder	21302340	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	16397240	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
speech impairment	20736978	CNVD
Intracranial aneurysm	16715129	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mental retardation	17124404	CNVD
Congenital anomalies of the kidney and urinary tract	20299530	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21509527	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	16760732	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	22958593	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20970697	CNVD
Mental retardation	19951919	CNVD
Autism	20970697	CNVD
Developmental delay	18471269	CNVD
Intellectual disability	22045946	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Uveal melanoma	20484589	CNVD
3q29 microdeletion syndrome	20500065	CNVD
Biliary cancer	20453639	CNVD
3q29 microdeletion syndrome	22283845	CNVD
3q29 microdeletion syndrome	21626679	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	20421269	CNVD

Chromatin state (count:304 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:196160600-196170800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr3:196167200-196171400	Weak transcription	Right Atrium	heart
3	chr3:196167800-196171000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr3:196167800-196171800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr3:196168000-196170400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr3:196168200-196184400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr3:196168400-196170400	Weak transcription	NHDF-Ad	bronchial
8	chr3:196168400-196170600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr3:196168400-196171200	Weak transcription	HepG2	liver
10	chr3:196168400-196171200	Weak transcription	Osteobl	bone
11	chr3:196168400-196194200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr3:196168600-196169800	Enhancers	GM12878-XiMat	blood
13	chr3:196169800-196171000	Weak transcription	GM12878-XiMat	blood
14	chr3:196170400-196170600	Enhancers	NHDF-Ad	bronchial
15	chr3:196170400-196171200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr3:196170400-196172400	Enhancers	K562	blood
17	chr3:196170600-196171000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr3:196170600-196171000	Weak transcription	NHDF-Ad	bronchial
19	chr3:196170800-196171600	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr3:196170800-196171600	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr3:196170800-196196000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr3:196171000-196171400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr3:196171000-196171400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr3:196171000-196171400	Active TSS	Ovary	ovary
25	chr3:196171000-196171800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr3:196171000-196171800	Enhancers	NHDF-Ad	bronchial
27	chr3:196171000-196172200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr3:196171000-196172200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr3:196171000-196172400	Enhancers	GM12878-XiMat	blood
30	chr3:196171000-196198400	Weak transcription	Fetal Brain Female	brain
31	chr3:196171200-196171400	Enhancers	Osteobl	bone
32	chr3:196171200-196171800	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr3:196171200-196172000	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr3:196171200-196172000	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr3:196171400-196171600	Enhancers	Brain Anterior Caudate	brain
36	chr3:196171400-196171600	Enhancers	Right Atrium	heart
37	chr3:196171400-196171600	Enhancers	HepG2	liver
38	chr3:196171400-196171800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr3:196171400-196172200	Enhancers	Primary T cells fromperipheralblood	blood
40	chr3:196171400-196174000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr3:196171400-196198600	Weak transcription	Ovary	ovary
42	chr3:196171600-196191000	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr3:196171800-196172000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr3:196171800-196181600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr3:196171800-196197600	Weak transcription	Brain Anterior Caudate	brain
46	chr3:196171800-196198200	Weak transcription	NHDF-Ad	bronchial
47	chr3:196172200-196184600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr3:196172200-196184600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr3:196172200-196198200	Weak transcription	Aorta	Aorta
50	chr3:196172400-196181000	Weak transcription	Stomach Smooth Muscle	stomach

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