Variant report

Variant	esv3442840
Chromosome Location	chr4:78277532-78309591
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:33)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:78287667..78288571-chr4:78353781..78354626,3	MCF-7	breast:
2	chr4:78306456..78307324-chr4:78354247..78354761,2	K562	blood:
3	chr4:78161324..78162321-chr4:78279149..78280134,4	MCF-7	breast:
4	chr4:78229797..78230625-chr4:78279333..78280102,3	MCF-7	breast:
5	chr4:78161365..78162334-chr4:78279195..78280134,7	K562	blood:
6	chr4:78278110..78280443-chr4:78281438..78283101,2	MCF-7	breast:
7	chr4:78236163..78238480-chr4:78287943..78289669,2	K562	blood:
8	chr4:78306484..78307565-chr4:78351707..78352604,5	MCF-7	breast:
9	chr4:78306259..78307081-chr4:78539517..78540020,2	K562	blood:
10	chr4:78161721..78162270-chr4:78279119..78279681,2	MCF-7	breast:
11	chr4:78289830..78292754-chr4:78299148..78300754,2	K562	blood:
12	chr4:78296565..78297450-chr4:78353933..78354751,2	MCF-7	breast:
13	chr4:78278110..78280443-chr4:78281438..78283101,2	MCF-7	breast:
14	chr4:78230184..78230702-chr4:78278364..78278865,2	MCF-7	breast:
15	chr4:78306282..78306818-chr4:78539506..78540132,2	MCF-7	breast:
16	chr4:78292160..78295150-chr4:78297091..78299092,2	MCF-7	breast:
17	chr4:78292160..78295150-chr4:78297091..78299092,2	MCF-7	breast:
18	chr4:78306262..78307241-chr4:78353866..78354908,3	MCF-7	breast:
19	chr4:78307066..78309627-chr4:78338398..78341247,3	MCF-7	breast:
20	chr4:78306158..78306757-chr4:78339536..78340194,2	MCF-7	breast:
21	chr4:78298658..78300930-chr4:78308885..78310955,2	MCF-7	breast:
22	chr4:78306302..78306941-chr4:78521930..78522730,3	MCF-7	breast:
23	chr4:78289830..78292754-chr4:78299148..78300754,2	K562	blood:
24	chr4:78307688..78309988-chr4:78313564..78315382,2	K562	blood:
25	chr4:78306562..78308497-chr4:78334856..78338257,3	MCF-7	breast:
26	chr4:78306597..78307214-chr4:78394387..78394937,2	K562	blood:
27	chr4:78306138..78307360-chr4:78339239..78340037,9	MCF-7	breast:
28	chr4:78287913..78288436-chr4:78619834..78620825,2	MCF-7	breast:
29	chr4:78306279..78307489-chr4:78353325..78355121,9	MCF-7	breast:
30	chr4:78287359..78291622-chr4:78351702..78357008,5	MCF-7	breast:
31	chr4:78298658..78300930-chr4:78308885..78310955,2	MCF-7	breast:
32	chr4:78306285..78307276-chr4:78351745..78352760,5	MCF-7	breast:
33	chr1:118958475..118959178-chr4:78279470..78280113,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCNG2-1	chr4:78305791-78305921	NONHSAT097050

No data

Extended variants
information (count: 1210 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:1210 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56403473	chr4:78277538-78277539	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs145324965	chr4:78277562-78277563	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559537535	chr4:78277563-78277564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527357599	chr4:78277567-78277568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547205087	chr4:78277592-78277593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554533867	chr4:78277630-78277631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570417932	chr4:78277721-78277722	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs33989456	chr4:78277728-78277729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539108495	chr4:78277729-78277730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529754548	chr4:78277806-78277807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549752495	chr4:78277809-78277810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569923594	chr4:78277815-78277816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535761635	chr4:78277844-78277845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs555571364	chr4:78277871-78277872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181439699	chr4:78277890-78277891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535103776	chr4:78277913-78277914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558012013	chr4:78277921-78277922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577970445	chr4:78277924-78277925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs17002587	chr4:78277945-78277946	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs186824146	chr4:78278008-78278009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573961482	chr4:78278009-78278010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542936000	chr4:78278023-78278024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190654129	chr4:78278031-78278032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs34684155	chr4:78278062-78278063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183287172	chr4:78278075-78278076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs62303630	chr4:78278090-78278091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541117417	chr4:78278097-78278098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111282821	chr4:78278190-78278191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112068793	chr4:78278223-78278224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113904285	chr4:78278231-78278232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111944717	chr4:78278251-78278252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10025816	chr4:78278257-78278258	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs111380708	chr4:78278346-78278347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552376555	chr4:78278363-78278364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549330044	chr4:78278365-78278366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10018010	chr4:78278444-78278445	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs149430062	chr4:78278476-78278477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557936543	chr4:78278490-78278491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116163453	chr4:78278591-78278592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs75821340	chr4:78278593-78278594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11732404	chr4:78278627-78278628	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs552307364	chr4:78278644-78278645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542898986	chr4:78278646-78278647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576927101	chr4:78278647-78278648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553298793	chr4:78278699-78278700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35810547	chr4:78278709-78278710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373280433	chr4:78278711-78278712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187956348	chr4:78278734-78278735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111774831	chr4:78278770-78278771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147546620	chr4:78278781-78278782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78276400-78281400	Weak transcription	Primary B cells from peripheral blood	blood
2	chr4:78276600-78281200	Weak transcription	Fetal Kidney	kidney
3	chr4:78276800-78277600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr4:78276800-78277800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:78276800-78277800	Enhancers	NHEK	skin
6	chr4:78277000-78277800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:78277000-78277800	Enhancers	Fetal Muscle Leg	muscle
8	chr4:78277000-78277800	Enhancers	HMEC	breast
9	chr4:78277000-78278000	Enhancers	Fetal Heart	heart
10	chr4:78277400-78287800	Weak transcription	Fetal Thymus	thymus
11	chr4:78281400-78281600	Enhancers	Fetal Kidney	kidney
12	chr4:78281400-78282000	Enhancers	Primary B cells from peripheral blood	blood
13	chr4:78281600-78282000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr4:78281600-78282000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:78282600-78283000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:78282800-78283400	Enhancers	H9 Cell Line	embryonic stem cell
17	chr4:78282800-78283400	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr4:78283000-78283200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
19	chr4:78283000-78283600	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr4:78283200-78283400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr4:78283200-78283600	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr4:78285400-78285600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr4:78287200-78289200	Enhancers	Fetal Muscle Leg	muscle
24	chr4:78287800-78289600	Enhancers	Fetal Thymus	thymus
25	chr4:78288400-78289400	Enhancers	Primary B cells from peripheral blood	blood
26	chr4:78291800-78292800	ZNF genes & repeats	Aorta	Aorta
27	chr4:78293400-78293600	Enhancers	Fetal Intestine Small	intestine
28	chr4:78294200-78294800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr4:78294800-78295600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr4:78297000-78297400	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr4:78297000-78297400	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr4:78297000-78297400	Enhancers	Primary T cells from cord blood	blood
33	chr4:78297000-78297800	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr4:78297000-78297800	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr4:78297000-78298000	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr4:78297000-78298400	Enhancers	H1 Cell Line	embryonic stem cell
37	chr4:78297200-78297600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr4:78297200-78297800	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr4:78298000-78299400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr4:78298200-78298400	Enhancers	Fetal Intestine Small	intestine
41	chr4:78298400-78298600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr4:78298400-78299600	Weak transcription	Fetal Intestine Small	intestine
43	chr4:78298400-78306800	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr4:78299400-78300600	Enhancers	Fetal Intestine Large	intestine
45	chr4:78299600-78300600	Enhancers	Fetal Intestine Small	intestine
46	chr4:78299800-78300000	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr4:78300600-78306200	Weak transcription	Fetal Intestine Small	intestine
48	chr4:78306200-78308200	Enhancers	Fetal Intestine Small	intestine
49	chr4:78306400-78307000	Enhancers	Fetal Muscle Leg	muscle
50	chr4:78306400-78307000	Enhancers	Fetal Thymus	thymus

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