Variant report

Variant	nsv462568
Chromosome Location	chr5:177679728-177707427
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:44)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:44 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:177706712..177707519-chr5:178016864..178017694,3	MCF-7	breast:
2	chr5:177682472..177686138-chr5:177686968..177690671,4	K562	blood:
3	chr5:177680211..177682699-chr5:177684964..177686597,2	K562	blood:
4	chr5:177669025..177670554-chr5:177680553..177683380,2	MCF-7	breast:
5	chr5:177706996..177707580-chr5:177887844..177888573,2	K562	blood:
6	chr5:177698904..177700407-chr5:177706155..177707702,2	K562	blood:
7	chr5:177706743..177707559-chr5:178017553..178018241,3	MCF-7	breast:
8	chr5:177680211..177682699-chr5:177684964..177686597,2	K562	blood:
9	chr5:177673184..177676409-chr5:177679568..177684017,5	K562	blood:
10	chr5:177706698..177707593-chr5:177977751..177978699,5	MCF-7	breast:
11	chr5:177707050..177707576-chr5:177733039..177733583,2	MCF-7	breast:
12	chr5:177687306..177690029-chr5:177710452..177712944,2	MCF-7	breast:
13	chr5:177706927..177707599-chr5:177977871..177978610,3	MCF-7	breast:
14	chr5:177674781..177677713-chr5:177688724..177690382,2	MCF-7	breast:
15	chr5:177657753..177659482-chr5:177688552..177690642,2	MCF-7	breast:
16	chr5:177705017..177707369-chr5:177709194..177712378,3	K562	blood:
17	chr5:177706637..177707790-chr5:178017212..178018303,12	K562	blood:
18	chr5:177679941..177681664-chr5:178053497..178055098,2	K562	blood:
19	chr15:60690033..60690595-chr5:177692810..177693329,2	HCT-116	colon:
20	chr5:177666154..177668382-chr5:177684774..177687012,2	MCF-7	breast:
21	chr5:177688646..177691134-chr5:177692615..177694812,2	MCF-7	breast:
22	chr5:177694652..177698387-chr5:177701947..177705005,3	MCF-7	breast:
23	chr5:177700241..177704563-chr5:177705321..177708218,5	MCF-7	breast:
24	chr5:177674663..177677489-chr5:177694652..177697569,3	K562	blood:
25	chr5:177623727..177624647-chr5:177706685..177707211,2	K562	blood:
26	chr5:177666998..177669633-chr5:177705585..177707860,2	MCF-7	breast:
27	chr5:177695402..177698313-chr5:177774135..177775779,2	K562	blood:
28	chr5:177682472..177686138-chr5:177686968..177690671,4	K562	blood:
29	chr5:177661877..177662434-chr5:177700931..177701850,2	MCF-7	breast:
30	chr5:177682641..177685103-chr5:177687845..177689639,2	K562	blood:
31	chr5:177705531..177707369-chr5:177709194..177711179,2	K562	blood:
32	chr5:177631652..177633817-chr5:177677988..177680794,2	K562	blood:
33	chr5:177700241..177704563-chr5:177705321..177708218,5	MCF-7	breast:
34	chr5:177688646..177691134-chr5:177692615..177694812,2	MCF-7	breast:
35	chr5:177698904..177700407-chr5:177706155..177707702,2	K562	blood:
36	chr5:177694652..177698387-chr5:177701947..177705005,3	MCF-7	breast:
37	chr5:177682641..177685103-chr5:177687845..177689639,2	K562	blood:
38	chr5:177658492..177661017-chr5:177701580..177703752,2	MCF-7	breast:
39	chr5:177663359..177666352-chr5:177692543..177695366,2	K562	blood:
40	chr5:177631158..177632989-chr5:177704368..177706626,2	MCF-7	breast:
41	chr5:177706726..177707270-chr5:178157310..178157911,2	MCF-7	breast:
42	chr5:177706757..177707961-chr5:178266041..178266913,4	MCF-7	breast:
43	chr5:177706688..177707297-chr5:177977028..177977867,2	MCF-7	breast:
44	chr5:177706663..177708953-chr5:178261165..178263624,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000050767	chromatin interactions
ENSG00000113240	chromatin interactions
ENSG00000175309	chromatin interactions
ENSG00000182718	chromatin interactions
ENSG00000169131	chromatin interactions
ENSG00000197451	chromatin interactions

Extended variants
information (count: 1330 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:1330 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12652833	chr5:177679728-177679729	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs116544977	chr5:177679783-177679784	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs532383705	chr5:177679789-177679790	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs55817617	chr5:177679832-177679833	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs183104992	chr5:177679849-177679850	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs530898126	chr5:177679850-177679851	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs146672247	chr5:177679879-177679880	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs567696169	chr5:177679942-177679943	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs557753812	chr5:177680010-177680011	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs553672215	chr5:177680031-177680032	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs11740467	chr5:177680063-177680064	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs149479760	chr5:177680124-177680125	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs186459392	chr5:177680139-177680140	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs571700406	chr5:177680170-177680171	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs539228837	chr5:177680175-177680176	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs77828950	chr5:177680210-177680211	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs575321081	chr5:177680236-177680237	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs542344563	chr5:177680258-177680259	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs2973750	chr5:177680292-177680293	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs574883546	chr5:177680333-177680334	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs139362308	chr5:177680345-177680346	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs11249796	chr5:177680365-177680366	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs115457640	chr5:177680469-177680470	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs557244721	chr5:177680479-177680480	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs565188164	chr5:177680481-177680482	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs532168206	chr5:177680485-177680486	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs4976752	chr5:177680489-177680490	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs142704406	chr5:177680508-177680509	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs531009753	chr5:177680546-177680547	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs201536485	chr5:177680584-177680585	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs549539461	chr5:177680629-177680630	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs567662001	chr5:177680630-177680631	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs373660038	chr5:177680644-177680645	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs528495406	chr5:177680651-177680652	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs11738533	chr5:177680674-177680675	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs571921529	chr5:177680675-177680676	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs538827812	chr5:177680684-177680685	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs140855909	chr5:177680703-177680704	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs569145043	chr5:177680768-177680769	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs149792027	chr5:177680829-177680830	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs554294295	chr5:177680830-177680831	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs572460254	chr5:177680831-177680832	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs111926858	chr5:177680833-177680834	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs558539266	chr5:177680849-177680850	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs377765837	chr5:177680850-177680851	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs147912056	chr5:177680903-177680904	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs562692550	chr5:177681125-177681126	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs141660477	chr5:177681134-177681135	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs2033201	chr5:177681139-177681140	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs561376903	chr5:177681169-177681170	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	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
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
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:216 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177669800-177699200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr5:177674000-177681200	Weak transcription	Fetal Stomach	stomach
3	chr5:177674000-177682400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr5:177674400-177689400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:177676600-177680000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr5:177677400-177688200	Weak transcription	Right Atrium	heart
7	chr5:177677600-177682000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:177677600-177688600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr5:177678400-177680000	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr5:177678600-177679800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr5:177679200-177680200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr5:177679400-177679800	Enhancers	Primary B cells from peripheral blood	blood
13	chr5:177679400-177679800	Enhancers	Fetal Muscle Leg	muscle
14	chr5:177679400-177680000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
15	chr5:177679400-177680200	Enhancers	Spleen	Spleen
16	chr5:177679400-177683200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr5:177679600-177679800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:177679600-177679800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr5:177679600-177680200	Enhancers	Fetal Muscle Trunk	muscle
20	chr5:177679600-177680200	Enhancers	Right Ventricle	heart
21	chr5:177679800-177680000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr5:177679800-177682400	Weak transcription	Fetal Muscle Leg	muscle
23	chr5:177679800-177684800	Weak transcription	Primary B cells from peripheral blood	blood
24	chr5:177679800-177688800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr5:177680000-177681200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr5:177680000-177681200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr5:177680200-177681200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr5:177680200-177684400	Weak transcription	Spleen	Spleen
29	chr5:177681200-177681400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr5:177681200-177681400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr5:177681200-177681600	Strong transcription	Fetal Stomach	stomach
32	chr5:177681200-177683400	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr5:177681400-177681800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr5:177681600-177684400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
35	chr5:177681800-177684200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr5:177682000-177683000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:177682400-177682600	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr5:177682400-177682800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr5:177682400-177683000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:177682400-177683000	Enhancers	Fetal Muscle Leg	muscle
41	chr5:177682400-177683800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr5:177682800-177683200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:177682800-177688800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr5:177683000-177683400	Weak transcription	Fetal Muscle Leg	muscle
45	chr5:177683000-177697400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr5:177683400-177684200	Enhancers	Fetal Muscle Leg	muscle
47	chr5:177684200-177684600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr5:177684400-177685000	Enhancers	Pancreas	Pancrea
49	chr5:177684600-177684800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr5:177684800-177685200	Enhancers	Primary B cells from peripheral blood	blood

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