Variant report

Variant	nsv1006944
Chromosome Location	chr4:56512574-56580169
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:46)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:46 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:56532999..56536054-chr4:56538312..56541698,3	K562	blood:
2	chr4:56550080..56552632-chr4:56586091..56588809,2	K562	blood:
3	chr4:56539528..56541945-chr4:56545482..56548185,2	K562	blood:
4	chr4:56517086..56520350-chr4:56522100..56524911,3	K562	blood:
5	chr4:56563632..56566026-chr4:56568439..56570285,2	K562	blood:
6	chr4:56562390..56565132-chr4:56566975..56569939,2	K562	blood:
7	chr4:56522244..56525288-chr4:56525318..56527795,3	K562	blood:
8	chr4:56501908..56503959-chr4:56520105..56522203,2	K562	blood:
9	chr4:56522244..56525288-chr4:56525318..56527795,3	K562	blood:
10	chr4:56515936..56519934-chr4:56522100..56525314,4	K562	blood:
11	chr4:56512523..56514282-chr4:56518613..56521303,2	K562	blood:
12	chr4:56563632..56566026-chr4:56568439..56570285,2	K562	blood:
13	chr4:56517756..56519698-chr4:56525326..56526892,2	K562	blood:
14	chr4:56520187..56522696-chr4:56535355..56536879,2	K562	blood:
15	chr4:56520164..56522203-chr4:56529132..56532078,2	K562	blood:
16	chr4:56520164..56522203-chr4:56529132..56532078,2	K562	blood:
17	chr4:56523921..56526378-chr4:56528208..56530318,2	K562	blood:
18	chr4:56517086..56520350-chr4:56522100..56524911,3	K562	blood:
19	chr4:56501880..56503647-chr4:56551680..56553889,2	K562	blood:
20	chr4:56512381..56514282-chr4:56518613..56520259,2	K562	blood:
21	chr4:56567077..56569612-chr4:56570589..56573149,3	K562	blood:
22	chr4:56501844..56503895-chr4:56534983..56537847,2	K562	blood:
23	chr4:56537092..56539099-chr4:56540693..56544119,3	K562	blood:
24	chr4:56520187..56522696-chr4:56535355..56536879,2	K562	blood:
25	chr4:56500691..56503425-chr4:56513263..56514979,2	K562	blood:
26	chr4:56529070..56532802-chr4:56534666..56538344,3	K562	blood:
27	chr4:56531998..56534382-chr4:56600029..56601817,2	K562	blood:
28	chr4:56571957..56574091-chr4:56598749..56600551,2	K562	blood:
29	chr4:56212106..56214944-chr4:56536048..56538408,2	K562	blood:
30	chr4:56532999..56536054-chr4:56538312..56541698,3	K562	blood:
31	chr4:56500129..56502345-chr4:56579313..56582236,2	K562	blood:
32	chr4:56523921..56526378-chr4:56528208..56530318,2	K562	blood:
33	chr4:56504870..56506522-chr4:56515627..56517625,2	K562	blood:
34	chr4:56512523..56514282-chr4:56518613..56521303,2	K562	blood:
35	chr4:56537092..56539099-chr4:56540693..56544119,3	K562	blood:
36	chr4:56512381..56514282-chr4:56518613..56520259,2	K562	blood:
37	chr4:56517756..56519698-chr4:56525326..56526892,2	K562	blood:
38	chr4:56508010..56509551-chr4:56524906..56527685,2	MCF-7	breast:
39	chr4:56562390..56565132-chr4:56566975..56569939,2	K562	blood:
40	chr4:56515936..56519934-chr4:56522100..56525314,4	K562	blood:
41	chr4:56527671..56530669-chr4:56531905..56533687,2	K562	blood:
42	chr4:56529070..56532802-chr4:56534666..56538344,3	K562	blood:
43	chr4:56527671..56530669-chr4:56531905..56533687,2	K562	blood:
44	chr4:56507649..56509909-chr4:56526051..56528840,3	K562	blood:
45	chr4:56567077..56569612-chr4:56570589..56573149,3	K562	blood:
46	chr4:56539528..56541945-chr4:56545482..56548185,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000109255	chromatin interactions
ENSG00000128039	chromatin interactions

Extended variants
information (count: 1770 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1770 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186585474	chr4:56513319-56513320	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs566974366	chr4:56513340-56513341	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs570789963	chr4:56513388-56513389	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs117684313	chr4:56513389-56513390	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs139128077	chr4:56513394-56513395	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs569272932	chr4:56513418-56513419	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs537804129	chr4:56513422-56513423	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs189029330	chr4:56513442-56513443	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs545059705	chr4:56513476-56513477	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs181998922	chr4:56513496-56513497	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs534432038	chr4:56513500-56513501	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs553929570	chr4:56513558-56513559	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs557676635	chr4:56513578-56513579	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs551686205	chr4:56513590-56513591	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs577157235	chr4:56513785-56513786	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs17085975	chr4:56513798-56513799	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs145077567	chr4:56513839-56513840	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs566147408	chr4:56513840-56513841	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs375837403	chr4:56513886-56513887	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs541424049	chr4:56513917-56513918	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs561844937	chr4:56513929-56513930	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs571427676	chr4:56513947-56513948	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs527376419	chr4:56513951-56513952	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs140845920	chr4:56513965-56513966	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs144603160	chr4:56513966-56513967	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs73817221	chr4:56514030-56514031	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs146651299	chr4:56514082-56514083	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs569927240	chr4:56514085-56514086	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs7680941	chr4:56514087-56514088	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs17085976	chr4:56514178-56514179	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs568574509	chr4:56514211-56514212	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs534024844	chr4:56514213-56514214	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs112247765	chr4:56514279-56514280	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs112309053	chr4:56514309-56514310	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs567430743	chr4:56514433-56514434	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs186156347	chr4:56514459-56514460	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs150268310	chr4:56514467-56514468	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs367747490	chr4:56514468-56514469	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs576648956	chr4:56514538-56514539	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs375500121	chr4:56514555-56514556	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs539601382	chr4:56514559-56514560	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs558165979	chr4:56514574-56514575	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs371606458	chr4:56514601-56514602	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs541839385	chr4:56514672-56514673	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs555055783	chr4:56514784-56514785	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs79607805	chr4:56514811-56514812	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs143480362	chr4:56514813-56514814	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs148356264	chr4:56514820-56514821	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs11722773	chr4:56514833-56514834	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs533173084	chr4:56514875-56514876	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
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
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	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
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	19435819	CNVD
Multiple myeloma	16616336	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
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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian neoplasms	16753589	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Glioblastoma	17504929	CNVD
Glioblastoma	16823502	CNVD
Melanoma	16908931	CNVD
Glioblastoma	20031968	CNVD
Medulloblastoma	19270706	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Olfactory neuroblastoma	18408657	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Rhabdomyosarcoma	16790082	CNVD
Gastrointestinal stromal cancer	17438095	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	19115005	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	22183965	CNVD
Autism	22543975	CNVD
Breast cancer	21785460	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56514600-56515400	Enhancers	K562	blood
2	chr4:56515400-56517800	Weak transcription	K562	blood
3	chr4:56515400-56541400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:56516400-56517200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:56517800-56518400	Enhancers	K562	blood
6	chr4:56518400-56519400	Weak transcription	K562	blood
7	chr4:56519400-56521400	Enhancers	K562	blood
8	chr4:56521400-56525000	Weak transcription	K562	blood
9	chr4:56522800-56524000	Enhancers	Placenta	Placenta
10	chr4:56525000-56525400	Enhancers	K562	blood
11	chr4:56525400-56526600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr4:56525400-56530400	Weak transcription	K562	blood
13	chr4:56526000-56527200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr4:56526000-56527200	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr4:56526000-56527600	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr4:56526200-56526400	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr4:56526200-56526600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr4:56526200-56528000	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr4:56526400-56526600	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr4:56526600-56526800	Enhancers	H9 Cell Line	embryonic stem cell
21	chr4:56526600-56530400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr4:56527000-56527200	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr4:56527000-56527600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr4:56527200-56530600	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr4:56527600-56527800	Enhancers	H9 Cell Line	embryonic stem cell
26	chr4:56527600-56533800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr4:56527800-56528000	Enhancers	Gastric	stomach
28	chr4:56527800-56534800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr4:56530400-56530800	Enhancers	K562	blood
30	chr4:56530400-56531000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr4:56530400-56531200	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr4:56530600-56530800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr4:56530600-56531200	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr4:56530800-56532000	Weak transcription	K562	blood
35	chr4:56530800-56534600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr4:56531200-56533600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr4:56532000-56533000	Flanking Active TSS	K562	blood
38	chr4:56533000-56535200	Enhancers	K562	blood
39	chr4:56533600-56535200	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr4:56533800-56535000	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr4:56534000-56535000	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr4:56534800-56535000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr4:56534800-56535000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr4:56534800-56535000	Enhancers	H9 Cell Line	embryonic stem cell
45	chr4:56534800-56535200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr4:56535000-56536400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr4:56535000-56541200	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr4:56535000-56541400	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr4:56535200-56536200	Weak transcription	K562	blood
50	chr4:56535200-56540200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links