Variant report

Variant	nsv460801
Chromosome Location	chr3:103180397-103308760
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	ATF2	chr3:103290805-103291256	GM12878	blood:	n/a	n/a
2	ATF2	chr3:103290808-103291325	GM12878	blood:	n/a	n/a
3	BATF	chr3:103290849-103291204	GM12878	blood:	n/a	n/a
4	BCL11A	chr3:103290919-103291146	GM12878	blood:	n/a	n/a
5	BHLHE40	chr3:103230775-103230926	GM12878	blood:	n/a	n/a
6	CEBPB	chr3:103251889-103252272	ECC-1	luminal epithelium:	n/a	n/a
7	CEBPB	chr3:103250488-103250705	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr3:103251900-103252292	ECC-1	luminal epithelium:	n/a	n/a
9	CEBPB	chr3:103206891-103207173	IMR90	lung:	n/a	chr3:103207047-103207058
10	CEBPB	chr3:103308333-103308643	HepG2	liver:	n/a	chr3:103308614-103308625
11	CEBPB	chr3:103206909-103207111	A549	lung:	n/a	chr3:103207047-103207058
12	CEBPB	chr3:103207011-103207107	H1-hESC	embryonic stem cell:	n/a	chr3:103207047-103207058
13	CEBPB	chr3:103206862-103207216	HepG2	liver:	n/a	chr3:103207047-103207058
14	CEBPB	chr3:103308326-103308617	IMR90	lung:	n/a	n/a
15	CEBPB	chr3:103283597-103283720	HepG2	liver:	n/a	chr3:103283614-103283625
16	CEBPB	chr3:103232642-103232884	HepG2	liver:	n/a	chr3:103232716-103232727
17	CEBPB	chr3:103308326-103308613	A549	lung:	n/a	n/a
18	CEBPB	chr3:103293018-103293124	H1-hESC	embryonic stem cell:	n/a	chr3:103293074-103293083
19	CREB1	chr3:103290886-103291258	GM12878	blood:	n/a	n/a
20	CREB1	chr3:103290847-103291325	GM12878	blood:	n/a	n/a
21	CTCF	chr3:103229217-103229301	LNCaP	prostate:	n/a	n/a
22	CTCF	chr3:103273911-103273975	Lung_OC	lung:	n/a	n/a
23	CTCF	chr3:103254300-103254450	BE2_C	brain:	n/a	n/a
24	CTCF	chr3:103214900-103215050	BE2_C	brain:	n/a	chr3:103214998-103215006
25	CTCF	chr3:103214920-103215070	HRPEpiC	eye:	n/a	chr3:103214998-103215006
26	CTCF	chr3:103242005-103242108	MCF-7	breast:	n/a	n/a
27	CTCF	chr3:103214980-103215130	AG10803	skin:	n/a	chr3:103214998-103215006
28	CTCF	chr3:103226229-103226284	GM10266	blood:	n/a	n/a
29	CTCF	chr3:103214979-103215003	Pancreas_OC	pancreas:	n/a	n/a
30	CTCF	chr3:103214900-103215050	MCF-7	breast:	n/a	chr3:103214998-103215006
31	CTCF	chr3:103214860-103215010	BE2_C	brain:	n/a	chr3:103214998-103215006
32	CTCF	chr3:103214880-103215030	HA-sp	spinal cord:	n/a	chr3:103214998-103215006
33	CTCF	chr3:103215020-103215170	BE2_C	brain:	n/a	n/a
34	CTCF	chr3:103214933-103215111	IMR90	lung:	n/a	chr3:103214998-103215006
35	CTCF	chr3:103247810-103247869	Fibrobl	skin:	n/a	n/a
36	CTCF	chr3:103214974-103215029	Hela-S3	cervix:	n/a	chr3:103214998-103215006
37	CTCF	chr3:103214933-103215046	LNCaP	prostate:	n/a	chr3:103214998-103215006
38	CTCF	chr3:103214960-103215110	HRPEpiC	eye:	n/a	chr3:103214998-103215006
39	CTCF	chr3:103214943-103215050	LNCaP	prostate:	n/a	chr3:103214998-103215006
40	CTCF	chr3:103214931-103215067	Medullo	brain:	n/a	chr3:103214998-103215006
41	CTCF	chr3:103225151-103225227	Spleen_OC	spleen:	n/a	n/a
42	CTCF	chr3:103214866-103215131	GM12878	blood:	n/a	chr3:103214998-103215006
43	CTCF	chr3:103226813-103226875	GM10266	blood:	n/a	n/a
44	E2F4	chr3:103210841-103211045	MCF10A-Er-Src	breast:	n/a	n/a
45	E2F4	chr3:103193359-103193430	MCF10A-Er-Src	breast:	n/a	n/a
46	E2F4	chr3:103251501-103251651	MCF10A-Er-Src	breast:	n/a	n/a
47	E2F4	chr3:103306036-103306220	MCF10A-Er-Src	breast:	n/a	n/a
48	E2F4	chr3:103235220-103235421	MCF10A-Er-Src	breast:	n/a	n/a
49	E2F4	chr3:103220466-103220763	MCF10A-Er-Src	breast:	n/a	n/a
50	E2F4	chr3:103216632-103216766	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZPLD1-8	chr3:103196095-103196431	l_2420_NR_026934
2	lnc-RPL24-6	chr3:103257479-103259331	NONHSAT090942
3	lnc-ZPLD1-8	chr3:103198015-103199460	l_2420_NR_026934

miRNA name	Chromosome Location	mirBase accession
hsa-miR-548ab	chr3:103242929-103242950	MIMAT0018928

Variant related genes	Relation type
MIR548AB	TF binding region
ENSG00000240107	TF binding region

Extended variants
information (count: 664 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:664 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149037948	chr3:103181203-103181204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs376490201	chr3:103181253-103181254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552832820	chr3:103181260-103181261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181470481	chr3:103181268-103181269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539868894	chr3:103181292-103181293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573658822	chr3:103181296-103181297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs11927633	chr3:103181308-103181309	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs184921771	chr3:103181324-103181325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574554765	chr3:103181366-103181367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374789660	chr3:103181371-103181372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557015747	chr3:103181402-103181403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs112211351	chr3:103181424-103181425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs11927683	chr3:103181455-103181456	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs189817868	chr3:103181472-103181473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563990249	chr3:103181482-103181483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576845173	chr3:103181534-103181535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146695458	chr3:103181541-103181542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559303592	chr3:103181546-103181547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs74923916	chr3:103189407-103189408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551197180	chr3:103189431-103189432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566542146	chr3:103189475-103189476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534147544	chr3:103189489-103189490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550526900	chr3:103189492-103189493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544846800	chr3:103189493-103189494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs190102838	chr3:103189599-103189600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192799147	chr3:103196100-103196101	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs118124699	chr3:103196101-103196102	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs373944694	chr3:103196112-103196113	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs373879385	chr3:103196133-103196134	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs561331488	chr3:103196173-103196174	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs528994537	chr3:103196185-103196186	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs72952246	chr3:103196232-103196233	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs568799708	chr3:103196248-103196249	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs562353285	chr3:103196285-103196286	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs79526785	chr3:103196300-103196301	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs572626424	chr3:103196310-103196311	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs184344889	chr3:103196313-103196314	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs527570016	chr3:103196323-103196324	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs538164590	chr3:103196334-103196335	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs202148561	chr3:103196353-103196354	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs12636402	chr3:103196370-103196371	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs547492137	chr3:103196377-103196378	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs79232809	chr3:103196378-103196379	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs11928984	chr3:103196383-103196384	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs535954043	chr3:103196399-103196400	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs189076522	chr3:103196406-103196407	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs145725931	chr3:103196428-103196429	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs191173693	chr3:103198071-103198072	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs538663367	chr3:103198074-103198075	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs145083473	chr3:103198075-103198076	Inactive region	lncRNA	n/a	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
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:103181200-103181600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr3:103189400-103189600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr3:103202800-103203200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:103216800-103218400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr3:103217400-103219400	Enhancers	NH-A	brain
6	chr3:103217800-103218200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr3:103218000-103218800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr3:103218200-103218600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr3:103218400-103218800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr3:103218400-103219000	Enhancers	HSMM	muscle
11	chr3:103218600-103219200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr3:103218800-103219400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr3:103219400-103221200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr3:103221200-103221800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr3:103230600-103231000	Enhancers	Fetal Intestine Small	intestine
16	chr3:103230800-103231800	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr3:103231000-103231400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr3:103231000-103231600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr3:103231000-103231800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr3:103231000-103231800	Enhancers	Fetal Intestine Large	intestine
21	chr3:103231200-103231800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr3:103248200-103248600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr3:103249000-103249200	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr3:103249200-103249400	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
25	chr3:103250200-103250600	Active TSS	Placenta	Placenta
26	chr3:103272800-103274200	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr3:103273000-103273400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr3:103273200-103273600	Enhancers	Fetal Lung	lung
29	chr3:103273200-103273800	Active TSS	Fetal Kidney	kidney
30	chr3:103273200-103274000	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr3:103273200-103274000	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr3:103273200-103274000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr3:103273200-103274200	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr3:103273200-103274600	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr3:103273400-103274000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr3:103273600-103274000	Active TSS	Fetal Lung	lung
37	chr3:103273800-103274200	Enhancers	Fetal Kidney	kidney
38	chr3:103282800-103285000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links