Variant report

Variant	nsv980220
Chromosome Location	chr4:78002601-78004358
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:78004320-78004470	HepG2	liver:	n/a	n/a
2	MAX	chr4:78004199-78004842	NB4	blood:	n/a	n/a
3	MYC	chr4:78004164-78004648	K562	blood:	n/a	n/a
4	MYC	chr4:78004282-78004817	NB4	blood:	n/a	n/a
5	POLR2A	chr4:78002429-78002629	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr4:78004068-78004192	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr4:78004087-78004777	SK-N-MC	brain:	n/a	n/a
8	POLR2A	chr4:78003894-78004263	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr4:78004331-78004847	HL-60	blood:	n/a	n/a
10	RCOR1	chr4:78003316-78003408	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:77995405..77999334-chr4:78000731..78006327,9	MCF-7	breast:
2	chr4:77994285..77999121-chr4:78003590..78007383,5	K562	blood:
3	chr4:77999699..78002762-chr4:78003346..78006086,3	K562	blood:
4	chr4:78000016..78003029-chr4:78003976..78006086,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCNI-2	chr4:78003556-78004279	NONHSAT097042

No data

Variant related genes	Relation type
RPL7P17	TF binding region
ENSG00000118816	chromatin interactions
ENSG00000214062	chromatin interactions

Extended variants
information (count: 75 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558536356	chr4:78002613-78002614	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs564392714	chr4:78002616-78002617	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs533122543	chr4:78002622-78002623	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs187946255	chr4:78002626-78002627	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs116727622	chr4:78002644-78002645	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs529350760	chr4:78002713-78002714	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs370649817	chr4:78002733-78002734	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs62302340	chr4:78002743-78002744	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs559191097	chr4:78002745-78002746	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs76123465	chr4:78002746-78002747	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs192231475	chr4:78002818-78002819	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs528509914	chr4:78002851-78002852	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs184612624	chr4:78002871-78002872	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs187845153	chr4:78002996-78002997	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs192954897	chr4:78002999-78003000	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs575299283	chr4:78003005-78003006	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs367756261	chr4:78003025-78003026	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs557129744	chr4:78003061-78003062	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs150036270	chr4:78003099-78003100	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs370853154	chr4:78003100-78003101	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs567873423	chr4:78003110-78003111	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs71214332	chr4:78003117-78003118	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs371455439	chr4:78003147-78003148	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs184348925	chr4:78003161-78003162	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs7662415	chr4:78003162-78003163	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs375350162	chr4:78003168-78003169	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs571915913	chr4:78003179-78003180	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs541039087	chr4:78003193-78003194	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs149580822	chr4:78003194-78003195	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs577998366	chr4:78003204-78003205	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs543770802	chr4:78003261-78003262	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs563458502	chr4:78003320-78003321	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs529101669	chr4:78003321-78003322	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs542728445	chr4:78003329-78003330	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs559801056	chr4:78003331-78003332	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs555119877	chr4:78003349-78003350	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs528433385	chr4:78003353-78003354	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs111462540	chr4:78003371-78003372	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs551350786	chr4:78003379-78003380	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs114614106	chr4:78003395-78003396	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs7669100	chr4:78003416-78003417	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs540910665	chr4:78003434-78003435	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs550894124	chr4:78003442-78003443	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs199914241	chr4:78003454-78003455	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs567722353	chr4:78003549-78003550	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs7667891	chr4:78003551-78003552	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs550257342	chr4:78003582-78003583	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs77144687	chr4:78003609-78003610	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs7669540	chr4:78003646-78003647	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs557767216	chr4:78003657-78003658	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	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
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:77998200-78004200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr4:77998400-78004200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr4:77998400-78004400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:77998400-78013800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr4:77998400-78016800	Weak transcription	Aorta	Aorta
6	chr4:77998600-78003600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:77998600-78004400	Weak transcription	Placenta	Placenta
8	chr4:77998600-78004600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr4:77998800-78004600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:77998800-78005000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr4:77998800-78020600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr4:77999000-78002800	Enhancers	Primary T cells from cord blood	blood
13	chr4:77999200-78003200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:77999200-78003400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr4:77999200-78003800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:77999400-78004400	Weak transcription	Fetal Lung	lung
17	chr4:77999400-78005000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:77999400-78006600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr4:77999400-78012200	Weak transcription	HMEC	breast
20	chr4:77999600-78005000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:77999800-78003600	Weak transcription	Fetal Muscle Leg	muscle
22	chr4:77999800-78004800	Weak transcription	NHEK	skin
23	chr4:77999800-78010600	Weak transcription	Fetal Muscle Trunk	muscle
24	chr4:77999800-78013400	Weak transcription	Thymus	Thymus
25	chr4:78000000-78003600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr4:78000000-78012200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr4:78000800-78003400	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr4:78001000-78014800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr4:78001400-78014400	Weak transcription	Fetal Intestine Small	intestine
30	chr4:78001600-78002800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr4:78001600-78016400	Weak transcription	Fetal Stomach	stomach
32	chr4:78002400-78004000	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr4:78002600-78005000	Weak transcription	Primary hematopoietic stem cells	blood
34	chr4:78002600-78013800	Weak transcription	Primary B cells from cord blood	blood
35	chr4:78002800-78004200	Weak transcription	Primary T cells from cord blood	blood
36	chr4:78003400-78004200	Enhancers	Psoas Muscle	Psoas
37	chr4:78003400-78004400	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr4:78003400-78004600	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr4:78003600-78003800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr4:78003600-78004600	Enhancers	Fetal Muscle Leg	muscle
41	chr4:78003600-78004800	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr4:78003600-78005400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr4:78003800-78004400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr4:78004000-78005000	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr4:78004000-78006800	Enhancers	K562	blood
46	chr4:78004200-78004600	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr4:78004200-78004600	Strong transcription	Primary T cells from cord blood	blood
48	chr4:78004200-78004800	Active TSS	ES-I3 Cell Line	embryonic stem cell

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