Variant report

Variant	esv1797744
Chromosome Location	chr5:106328326-106358541
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:53)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:53 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr5:106355968-106356172	HepG2	liver:	n/a	chr5:106356040-106356051
2	CEBPB	chr5:106348535-106348815	A549	lung:	n/a	n/a
3	CEBPB	chr5:106355939-106356101	A549	lung:	n/a	chr5:106356040-106356051
4	CEBPB	chr5:106348574-106348718	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr5:106355896-106356117	IMR90	lung:	n/a	chr5:106356040-106356051
6	CEBPB	chr5:106348625-106348770	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr5:106348540-106348816	IMR90	lung:	n/a	n/a
8	CTCF	chr5:106333068-106333119	LNCaP	prostate:	n/a	n/a
9	CTCF	chr5:106347340-106347490	SK-N-SH_RA	brain:	n/a	n/a
10	CTCF	chr5:106340180-106340330	GM12864	blood:	n/a	n/a
11	CTCF	chr5:106337000-106337150	GM12878	blood:	n/a	n/a
12	CTCF	chr5:106348844-106348878	GM20000	blood:	n/a	n/a
13	CTCF	chr5:106349960-106350110	A549	lung:	n/a	n/a
14	CTCF	chr5:106347500-106347650	BE2_C	brain:	n/a	n/a
15	E2F4	chr5:106349736-106349849	MCF10A-Er-Src	breast:	n/a	n/a
16	EP300	chr5:106346396-106346728	SK-N-SH_RA	brain:	n/a	n/a
17	EP300	chr5:106346394-106346670	SK-N-SH_RA	brain:	n/a	n/a
18	EP300	chr5:106341470-106341747	SK-N-SH_RA	brain:	n/a	n/a
19	EP300	chr5:106347293-106347608	SK-N-SH_RA	brain:	n/a	n/a
20	EP300	chr5:106347304-106347611	SK-N-SH_RA	brain:	n/a	n/a
21	GATA2	chr5:106346584-106346846	HUVEC	blood vessel:	n/a	n/a
22	GATA2	chr5:106347235-106347875	SH-SY5Y	brain:	n/a	n/a
23	GATA3	chr5:106357978-106358536	SK-N-SH	brain:	n/a	n/a
24	GATA3	chr5:106347175-106347681	SK-N-SH	brain:	n/a	n/a
25	GATA3	chr5:106347434-106347942	SH-SY5Y	brain:	n/a	n/a
26	GATA3	chr5:106347155-106347767	SK-N-SH	brain:	n/a	n/a
27	JUND	chr5:106349725-106349791	H1-hESC	embryonic stem cell:	n/a	n/a
28	MYC	chr5:106358195-106358209	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr5:106328367-106328373	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr5:106329025-106329213	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr5:106329094-106329251	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr5:106328591-106329452	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr5:106347725-106347762	GM12878	blood:	n/a	n/a
34	POLR2A	chr5:106345520-106345636	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr5:106330078-106330276	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr5:106341814-106342185	H1-neurons	neurons:	n/a	n/a
37	POLR2A	chr5:106328251-106328456	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr5:106348722-106348738	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr5:106328317-106328455	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr5:106342114-106342151	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr5:106328249-106328333	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr5:106330035-106330240	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr5:106349931-106349975	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr5:106338915-106339090	MCF10A-Er-Src	breast:	n/a	n/a
45	RAD21	chr5:106347258-106347489	SK-N-SH_RA	brain:	n/a	n/a
46	RAD21	chr5:106347256-106347535	SK-N-SH_RA	brain:	n/a	n/a
47	REST	chr5:106347220-106347491	PFSK-1	brain:	n/a	chr5:106347376-106347389
48	REST	chr5:106347235-106347613	PFSK-1	brain:	n/a	chr5:106347376-106347389
49	STAT3	chr5:106353494-106353608	MCF10A-Er-Src	breast:	n/a	n/a
50	STAT3	chr5:106346690-106346721	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:106353118..106354798-chr5:106355082..106357442,2	K562	blood:
2	chr5:106335059..106337350-chr5:106341839..106343537,2	MCF-7	breast:
3	chr5:106341177..106343472-chr5:106344792..106347005,2	K562	blood:
4	chr5:106354055..106355877-chr5:106363964..106366429,2	MCF-7	breast:
5	chr5:106338383..106341187-chr5:106343308..106346258,2	MCF-7	breast:
6	chr5:106335059..106337350-chr5:106341839..106343537,2	MCF-7	breast:
7	chr5:106338383..106341187-chr5:106343308..106346258,2	MCF-7	breast:
8	chr5:106353118..106354798-chr5:106355082..106357442,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000251027	TF binding region
ENSG00000251027	chromatin interactions

Extended variants
information (count: 947 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:947 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4395620	chr5:106328326-106328327	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs546548465	chr5:106328351-106328352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561770727	chr5:106328369-106328370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532133680	chr5:106328396-106328397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187627425	chr5:106328405-106328406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4533874	chr5:106328406-106328407	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs537127333	chr5:106328438-106328439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375468898	chr5:106328555-106328556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138976611	chr5:106328575-106328576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142113605	chr5:106328577-106328578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146336533	chr5:106328578-106328579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369868696	chr5:106328630-106328631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539389431	chr5:106328694-106328695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11242617	chr5:106328703-106328704	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs575831215	chr5:106328745-106328746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11242618	chr5:106328762-106328763	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs550916636	chr5:106328765-106328766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113472318	chr5:106328781-106328782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574302307	chr5:106328830-106328831	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs539849890	chr5:106328847-106328848	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs111393562	chr5:106328946-106328947	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs192045382	chr5:106328984-106328985	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs184974419	chr5:106329016-106329017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140480156	chr5:106329020-106329021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555418060	chr5:106329044-106329045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562526821	chr5:106329056-106329057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574173257	chr5:106329075-106329076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531548464	chr5:106329172-106329173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139576522	chr5:106329182-106329183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567758416	chr5:106329196-106329197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530176451	chr5:106329254-106329255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188898058	chr5:106329268-106329269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192336889	chr5:106329269-106329270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539327027	chr5:106329297-106329298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559310649	chr5:106329319-106329320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569322243	chr5:106329346-106329347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538400702	chr5:106329356-106329357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556586174	chr5:106329405-106329406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs13157194	chr5:106329416-106329417	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs371015230	chr5:106329506-106329507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566544416	chr5:106329520-106329521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs74441680	chr5:106329555-106329556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs141892370	chr5:106329561-106329562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs202217511	chr5:106329580-106329581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs202134550	chr5:106329581-106329582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs71224897	chr5:106329583-106329584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76682965	chr5:106329584-106329585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201453486	chr5:106329587-106329588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs202023136	chr5:106329589-106329590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376717965	chr5:106329710-106329711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106323800-106336000	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr5:106328200-106328400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:106328400-106328800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:106328800-106329000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:106337800-106338200	Enhancers	Fetal Heart	heart
6	chr5:106338200-106341000	Weak transcription	Fetal Heart	heart
7	chr5:106340800-106341200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr5:106341000-106341200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr5:106341000-106342800	Enhancers	Fetal Heart	heart
10	chr5:106341400-106341800	Enhancers	Fetal Lung	lung
11	chr5:106342800-106344000	Weak transcription	Fetal Heart	heart
12	chr5:106344200-106344400	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr5:106344200-106344400	Enhancers	Fetal Heart	heart
14	chr5:106346600-106347400	Enhancers	Fetal Muscle Leg	muscle
15	chr5:106346800-106347800	Enhancers	HSMMtube	muscle
16	chr5:106347200-106347600	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr5:106347200-106347800	Enhancers	Brain Anterior Caudate	brain
18	chr5:106347400-106347800	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr5:106349800-106350200	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr5:106349800-106350200	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr5:106349800-106350200	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr5:106350000-106350200	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr5:106350200-106351200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr5:106350200-106353400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr5:106350200-106353600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr5:106350400-106353400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr5:106353400-106353800	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr5:106353400-106353800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr5:106353400-106354000	Enhancers	Brain Germinal Matrix	brain
30	chr5:106353400-106354200	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr5:106353400-106354400	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr5:106353600-106354200	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr5:106355200-106361200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr5:106357400-106357600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links