Variant report

Variant	nsv963347
Chromosome Location	chr3:101318121-101342898
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:133)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:133 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr3:101329960-101330206	K562	blood:	n/a	n/a
2	BATF	chr3:101331876-101332119	GM12878	blood:	n/a	n/a
3	CBX3	chr3:101329849-101330226	K562	blood:	n/a	n/a
4	CBX3	chr3:101321987-101322412	K562	blood:	n/a	n/a
5	CCNT2	chr3:101329963-101330490	K562	blood:	n/a	n/a
6	CEBPB	chr3:101331855-101332179	HepG2	liver:	n/a	n/a
7	CEBPB	chr3:101332392-101332513	HepG2	liver:	n/a	chr3:101332420-101332431
8	CEBPB	chr3:101332788-101332877	IMR90	lung:	n/a	n/a
9	CEBPB	chr3:101331909-101332057	HepG2	liver:	n/a	n/a
10	CEBPB	chr3:101338876-101338977	A549	lung:	n/a	n/a
11	CEBPB	chr3:101341681-101341925	HepG2	liver:	n/a	chr3:101341819-101341830
12	CTCF	chr3:101337820-101337970	GM12872	blood:	n/a	n/a
13	CTCF	chr3:101320887-101320958	Fibrobl	skin:	n/a	n/a
14	CTCF	chr3:101342500-101342650	GM12866	blood:	n/a	n/a
15	E2F4	chr3:101320944-101321209	MCF10A-Er-Src	breast:	n/a	n/a
16	ELF1	chr3:101329937-101330264	K562	blood:	n/a	n/a
17	EP300	chr3:101329892-101330206	K562	blood:	n/a	n/a
18	FOS	chr3:101320801-101321199	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr3:101319885-101320065	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr3:101319848-101319979	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr3:101320797-101321201	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr3:101319823-101320109	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr3:101319883-101320055	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr3:101320797-101321226	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr3:101320797-101321188	MCF10A-Er-Src	breast:	n/a	n/a
26	FOXA1	chr3:101324191-101324520	HepG2	liver:	n/a	n/a
27	FOXA1	chr3:101324196-101324613	HepG2	liver:	n/a	n/a
28	FOXA1	chr3:101324188-101324457	HepG2	liver:	n/a	n/a
29	FOXA1	chr3:101324202-101324487	HepG2	liver:	n/a	n/a
30	FOXA2	chr3:101324203-101324426	HepG2	liver:	n/a	n/a
31	FOXA2	chr3:101324206-101324615	A549	lung:	n/a	n/a
32	GATA2	chr3:101329824-101330209	K562	blood:	n/a	n/a
33	HEY1	chr3:101324339-101324527	HepG2	liver:	n/a	n/a
34	JUND	chr3:101329916-101330212	K562	blood:	n/a	n/a
35	KAP1	chr3:101321866-101322217	K562	blood:	n/a	n/a
36	MAFK	chr3:101324252-101324461	HepG2	liver:	n/a	chr3:101324404-101324419
37	MAX	chr3:101342608-101342827	H1-hESC	embryonic stem cell:	n/a	n/a
38	MYC	chr3:101320875-101321202	MCF10A-Er-Src	breast:	n/a	n/a
39	MYC	chr3:101320865-101321144	MCF10A-Er-Src	breast:	n/a	n/a
40	NR3C1	chr3:101334909-101335007	A549	lung:	n/a	n/a
41	PAX5	chr3:101331832-101332159	GM12878	blood:	n/a	n/a
42	PAX5	chr3:101331851-101332109	GM12878	blood:	n/a	n/a
43	POLR2A	chr3:101329891-101330150	K562	blood:	n/a	n/a
44	POLR2A	chr3:101337269-101337483	K562	blood:	n/a	n/a
45	POLR2A	chr3:101342114-101342282	K562	blood:	n/a	n/a
46	POLR2A	chr3:101333382-101333388	K562	blood:	n/a	n/a
47	POLR2A	chr3:101319667-101319987	K562	blood:	n/a	n/a
48	POLR2A	chr3:101341461-101341495	K562	blood:	n/a	n/a
49	POLR2A	chr3:101334654-101334910	K562	blood:	n/a	n/a
50	POLR2A	chr3:101328851-101328990	MCF-7	breast:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:101331762..101333871-chr3:101336729..101339196,2	K562	blood:
2	chr3:101291482..101293245-chr3:101342299..101345012,2	K562	blood:
3	chr3:101334276..101336350-chr3:101340369..101341932,2	K562	blood:
4	chr3:101292615..101294192-chr3:101329847..101331494,2	K562	blood:
5	chr3:101291174..101294034-chr3:101342312..101345012,3	K562	blood:
6	chr3:101332371..101334926-chr3:101336522..101339196,2	K562	blood:
7	chr3:101321515..101323035-chr3:101324963..101327603,2	K562	blood:
8	chr3:101321515..101323035-chr3:101324963..101327603,2	K562	blood:
9	chr3:101328750..101331504-chr3:101333051..101336875,3	K562	blood:
10	chr3:101292630..101294845-chr3:101319728..101322179,2	MCF-7	breast:
11	chr3:101331762..101333871-chr3:101336729..101339196,2	K562	blood:
12	chr3:101330944..101333451-chr3:101352917..101354894,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZBTB11-1	chr3:101318087-101318488	NONHSAT090894

No data

Variant related genes	Relation type
ENSG00000243396	TF binding region
RNU6-1256P	TF binding region
ENSG00000081154	chromatin interactions
ENSG00000252348	chromatin interactions

Extended variants
information (count: 870 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:870 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567800840	chr3:101318145-101318146	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
2	rs535642067	chr3:101318146-101318147	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
3	rs557146910	chr3:101318180-101318181	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
4	rs77437935	chr3:101318251-101318252	Weak transcription Strong transcription Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
5	rs79974265	chr3:101318299-101318300	Weak transcription Strong transcription Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
6	rs17345786	chr3:101318318-101318319	Weak transcription Strong transcription Enhancers ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs76223447	chr3:101318349-101318350	Weak transcription Strong transcription Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
8	rs572726603	chr3:101318362-101318363	Weak transcription Strong transcription Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
9	rs182785450	chr3:101318420-101318421	Weak transcription Strong transcription Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
10	rs555038005	chr3:101318438-101318439	Weak transcription Strong transcription Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
11	rs573451701	chr3:101318459-101318460	Weak transcription Strong transcription Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
12	rs543907555	chr3:101318500-101318501	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs562704736	chr3:101318514-101318515	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs371180212	chr3:101318534-101318535	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs377691601	chr3:101318557-101318558	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs186479451	chr3:101318645-101318646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545350273	chr3:101318660-101318661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528628271	chr3:101318663-101318664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560869388	chr3:101318704-101318705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs4482647	chr3:101318780-101318781	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs549405031	chr3:101318791-101318792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191374820	chr3:101318802-101318803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531797222	chr3:101318807-101318808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550311804	chr3:101318811-101318812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569043045	chr3:101318858-101318859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539644801	chr3:101318861-101318862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557750184	chr3:101318879-101318880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184583927	chr3:101318883-101318884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs17508319	chr3:101318903-101318904	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs529392238	chr3:101318923-101318924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570466532	chr3:101318927-101318928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567394893	chr3:101318959-101318960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200595099	chr3:101318960-101318961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111401637	chr3:101318969-101318970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187895067	chr3:101318979-101318980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200927871	chr3:101318989-101318990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs34389218	chr3:101318990-101318991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs193068418	chr3:101318991-101318992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577193734	chr3:101318999-101319000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs578094567	chr3:101319001-101319002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573446524	chr3:101319005-101319006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545618089	chr3:101319007-101319008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533362437	chr3:101319009-101319010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200479807	chr3:101319023-101319024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200959669	chr3:101319024-101319025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201607398	chr3:101319033-101319034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs527939125	chr3:101319043-101319044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533488819	chr3:101319049-101319050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35452476	chr3:101319051-101319052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145408244	chr3:101319057-101319058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21785460	CNVD
Breast cancer	22522925	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:141 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:101294200-101319400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:101296000-101324600	Weak transcription	Aorta	Aorta
3	chr3:101302600-101319600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:101304200-101319600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr3:101305800-101318200	Weak transcription	Spleen	Spleen
6	chr3:101305800-101319800	Weak transcription	Pancreas	Pancrea
7	chr3:101305800-101322600	Weak transcription	HSMMtube	muscle
8	chr3:101305800-101324400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr3:101306000-101318200	Weak transcription	Gastric	stomach
10	chr3:101309600-101320200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr3:101309600-101324000	Weak transcription	Brain Hippocampus Middle	brain
12	chr3:101310000-101319800	Weak transcription	Right Ventricle	heart
13	chr3:101310000-101320400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr3:101310200-101320000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr3:101310400-101320000	Weak transcription	Primary T cells from cord blood	blood
16	chr3:101310400-101320000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr3:101310400-101320200	Weak transcription	Brain Germinal Matrix	brain
18	chr3:101310400-101322400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr3:101310400-101324800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr3:101310800-101320000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr3:101311000-101319800	Weak transcription	NHLF	lung
22	chr3:101311000-101321000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr3:101311000-101329800	Weak transcription	Thymus	Thymus
24	chr3:101311400-101319800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr3:101311400-101324400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr3:101311400-101324600	Weak transcription	Esophagus	oesophagus
27	chr3:101311400-101329600	Weak transcription	K562	blood
28	chr3:101312200-101319000	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr3:101312800-101321400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr3:101313000-101321000	Weak transcription	HMEC	breast
31	chr3:101313200-101322200	Weak transcription	Placenta	Placenta
32	chr3:101313400-101321400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr3:101313400-101324600	Weak transcription	HSMM	muscle
34	chr3:101313600-101318200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr3:101313800-101320000	Weak transcription	Osteobl	bone
36	chr3:101314400-101320000	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr3:101314400-101320000	Weak transcription	Fetal Brain Female	brain
38	chr3:101314400-101321000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr3:101314400-101324000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr3:101314800-101321400	Weak transcription	Fetal Intestine Small	intestine
41	chr3:101314800-101328200	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr3:101315000-101319800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr3:101315000-101320000	Weak transcription	Liver	Liver
44	chr3:101315000-101320800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr3:101315000-101321000	Weak transcription	NHEK	skin
46	chr3:101315000-101321200	Weak transcription	Left Ventricle	heart
47	chr3:101315000-101321200	Weak transcription	GM12878-XiMat	blood
48	chr3:101315000-101321600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr3:101315000-101323200	Weak transcription	Lung	lung
50	chr3:101315200-101321400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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