Variant report

Variant	nsv522745
Chromosome Location	chr3:101306507-101313940
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr3:101307342-101308041	SK-N-SH	brain:	n/a	n/a
2	GATA3	chr3:101307415-101308051	SK-N-SH	brain:	n/a	n/a
3	JUN	chr3:101307837-101308044	K562	blood:	n/a	n/a
4	MAFK	chr3:101308760-101308902	HepG2	liver:	n/a	n/a
5	POLR2A	chr3:101309397-101309478	MCF-7	breast:	n/a	n/a
6	POLR2A	chr3:101309012-101309156	K562	blood:	n/a	n/a
7	POLR2A	chr3:101306254-101306824	K562	blood:	n/a	n/a
8	POLR2A	chr3:101310271-101310457	HepG2	liver:	n/a	n/a
9	POLR2A	chr3:101307112-101307227	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr3:101311109-101311278	HepG2	liver:	n/a	n/a
11	POLR2A	chr3:101313870-101313897	K562	blood:	n/a	n/a
12	POLR2A	chr3:101312751-101312839	HepG2	liver:	n/a	n/a
13	POLR2A	chr3:101313162-101313189	HepG2	liver:	n/a	n/a
14	POLR2A	chr3:101310715-101310764	A549	lung:	n/a	n/a
15	POLR2A	chr3:101310233-101310384	K562	blood:	n/a	n/a
16	POLR2A	chr3:101309494-101309697	K562	blood:	n/a	n/a
17	POLR2A	chr3:101309513-101309669	HepG2	liver:	n/a	n/a
18	POLR2A	chr3:101309677-101309710	HepG2	liver:	n/a	n/a
19	POLR2A	chr3:101309758-101309784	HepG2	liver:	n/a	n/a
20	POLR2A	chr3:101313871-101313884	HepG2	liver:	n/a	n/a
21	POLR2A	chr3:101313565-101314059	GM12892	blood:	n/a	n/a
22	POLR2A	chr3:101309924-101310412	K562	blood:	n/a	n/a
23	POLR2A	chr3:101307146-101307312	K562	blood:	n/a	n/a
24	POLR2A	chr3:101313645-101313792	HepG2	liver:	n/a	n/a
25	POLR2A	chr3:101311985-101312014	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr3:101309925-101309974	MCF-7	breast:	n/a	n/a
27	POLR2A	chr3:101306900-101307229	HepG2	liver:	n/a	n/a
28	STAT3	chr3:101307464-101307581	MCF10A-Er-Src	breast:	n/a	n/a
29	ZNF384	chr3:101310530-101310611	K562	blood:	n/a	n/a
30	ZNF384	chr3:101310586-101310657	GM12878	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:101306837..101309354-chr3:101312935..101314990,2	MCF-7	breast:
2	chr3:101303155..101306104-chr3:101309279..101311204,2	K562	blood:
3	chr3:101294680..101296540-chr3:101306521..101308762,3	MCF-7	breast:
4	chr3:101310187..101312931-chr3:101315424..101317522,3	K562	blood:
5	chr3:101306571..101308264-chr3:101393626..101395176,2	MCF-7	breast:
6	chr3:101292711..101295635-chr3:101305942..101308105,2	K562	blood:
7	chr3:101294135..101296037-chr3:101305299..101307442,2	K562	blood:

No data

Variant related genes	Relation type
PCNP	TF binding region
ENSG00000242299	chromatin interactions
ENSG00000081154	chromatin interactions

Extended variants
information (count: 288 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:288 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3804775	chr3:101306507-101306508	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs556164076	chr3:101306528-101306529	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs577550711	chr3:101306557-101306558	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs543427667	chr3:101306576-101306577	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs558959863	chr3:101306612-101306613	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs188812863	chr3:101306622-101306623	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs13097625	chr3:101306635-101306636	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs571714336	chr3:101306659-101306660	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs562362474	chr3:101306669-101306670	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs542320951	chr3:101306670-101306671	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs149403960	chr3:101306680-101306681	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs79048836	chr3:101306681-101306682	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs115490370	chr3:101306685-101306686	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs566118992	chr3:101306718-101306719	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs532895083	chr3:101306719-101306720	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs147106306	chr3:101306728-101306729	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs545250196	chr3:101306731-101306732	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs559736795	chr3:101306750-101306751	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs138551844	chr3:101306751-101306752	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs548358915	chr3:101306762-101306763	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs560021562	chr3:101306764-101306765	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs144131103	chr3:101306832-101306833	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs202062996	chr3:101306869-101306870	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs7640856	chr3:101306888-101306889	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs549990313	chr3:101306896-101306897	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs571206337	chr3:101306898-101306899	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs538501904	chr3:101306914-101306915	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs528705425	chr3:101306938-101306939	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs553661550	chr3:101306965-101306966	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs542430504	chr3:101306972-101306973	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs560634520	chr3:101306976-101306977	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs11708845	chr3:101306999-101307000	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs554344901	chr3:101307000-101307001	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs576119227	chr3:101307008-101307009	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs180786890	chr3:101307041-101307042	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs141677339	chr3:101307042-101307043	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs577516386	chr3:101307058-101307059	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs532014178	chr3:101307070-101307071	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs9847617	chr3:101307124-101307125	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs184667807	chr3:101307229-101307230	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs542244852	chr3:101307237-101307238	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs563622633	chr3:101307249-101307250	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs566389443	chr3:101307278-101307279	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs190347810	chr3:101307289-101307290	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs145529672	chr3:101307305-101307306	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs369870297	chr3:101307306-101307307	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs555226668	chr3:101307335-101307336	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs571072015	chr3:101307336-101307337	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs111864105	chr3:101307358-101307359	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs182223181	chr3:101307370-101307371	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Melanoma	20877625	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:318 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:101294000-101312200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:101294200-101309000	Weak transcription	Colonic Mucosa	Colon
3	chr3:101294200-101310000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr3:101294200-101319400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:101294400-101309400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr3:101295000-101309400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr3:101295000-101310200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr3:101295200-101306800	Weak transcription	Psoas Muscle	Psoas
9	chr3:101295800-101315000	Weak transcription	Right Atrium	heart
10	chr3:101296000-101324600	Weak transcription	Aorta	Aorta
11	chr3:101296200-101310000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr3:101296400-101316400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:101296600-101311600	Weak transcription	Stomach Mucosa	stomach
14	chr3:101296600-101315000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr3:101296800-101318000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr3:101297400-101314400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr3:101297600-101315200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr3:101297800-101312400	Weak transcription	Brain Angular Gyrus	brain
19	chr3:101298600-101316400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr3:101298800-101312000	Weak transcription	Fetal Heart	heart
21	chr3:101298800-101312800	Weak transcription	Small Intestine	intestine
22	chr3:101299000-101309400	Weak transcription	Ovary	ovary
23	chr3:101300200-101317800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr3:101301000-101311400	Strong transcription	Fetal Stomach	stomach
25	chr3:101301000-101313400	Strong transcription	HSMM	muscle
26	chr3:101301000-101315400	Strong transcription	Dnd41	blood
27	chr3:101301200-101307200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr3:101301200-101313000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr3:101301200-101315400	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr3:101301400-101313600	Strong transcription	Primary B cells from cord blood	blood
31	chr3:101301400-101316400	Strong transcription	Primary B cells from peripheral blood	blood
32	chr3:101301600-101307200	Strong transcription	Duodenum Mucosa	Duodenum
33	chr3:101301600-101307200	Strong transcription	Fetal Intestine Large	intestine
34	chr3:101301600-101309800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr3:101301600-101314600	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr3:101301600-101315000	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr3:101301600-101317000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr3:101301800-101307200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr3:101301800-101307600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr3:101301800-101311400	Strong transcription	Fetal Muscle Leg	muscle
41	chr3:101301800-101312200	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr3:101301800-101313400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr3:101301800-101316000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr3:101302000-101310000	Weak transcription	NHDF-Ad	bronchial
45	chr3:101302200-101314400	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr3:101302600-101319600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr3:101302800-101307200	Strong transcription	Fetal Muscle Trunk	muscle
48	chr3:101302800-101313600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr3:101302800-101315000	Strong transcription	Fetal Thymus	thymus
50	chr3:101303000-101307200	Strong transcription	Fetal Brain Female	brain

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