Variant report

Variant	nsv984571
Chromosome Location	chr5:177681557-177710382
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	chr5:177707050..177707576-chr5:177733039..177733583,2	MCF-7	breast:
2	chr5:177661877..177662434-chr5:177700931..177701850,2	MCF-7	breast:
3	chr5:177706743..177707559-chr5:178017553..178018241,3	MCF-7	breast:
4	chr5:177688646..177691134-chr5:177692615..177694812,2	MCF-7	breast:
5	chr5:177623727..177624647-chr5:177706685..177707211,2	K562	blood:
6	chr5:177706757..177707961-chr5:178266041..178266913,4	MCF-7	breast:
7	chr5:177663359..177666352-chr5:177692543..177695366,2	K562	blood:
8	chr5:177705531..177707369-chr5:177709194..177711179,2	K562	blood:
9	chr5:177705531..177707369-chr5:177709194..177711179,2	K562	blood:
10	chr5:177706996..177707580-chr5:177887844..177888573,2	K562	blood:
11	chr5:177706698..177707593-chr5:177977751..177978699,5	MCF-7	breast:
12	chr15:60690033..60690595-chr5:177692810..177693329,2	HCT-116	colon:
13	chr5:177700241..177704563-chr5:177705321..177708218,5	MCF-7	breast:
14	chr5:177705017..177707369-chr5:177709194..177712378,3	K562	blood:
15	chr5:177679941..177681664-chr5:178053497..178055098,2	K562	blood:
16	chr5:177705017..177707369-chr5:177709194..177712378,3	K562	blood:
17	chr5:177658492..177661017-chr5:177701580..177703752,2	MCF-7	breast:
18	chr5:177682472..177686138-chr5:177686968..177690671,4	K562	blood:
19	chr5:177680211..177682699-chr5:177684964..177686597,2	K562	blood:
20	chr5:177706688..177707297-chr5:177977028..177977867,2	MCF-7	breast:
21	chr5:177706927..177707599-chr5:177977871..177978610,3	MCF-7	breast:
22	chr5:177708522..177710701-chr5:178921263..178923252,2	K562	blood:
23	chr5:177680211..177682699-chr5:177684964..177686597,2	K562	blood:
24	chr5:177666998..177669633-chr5:177705585..177707860,2	MCF-7	breast:
25	chr5:177706663..177708953-chr5:178261165..178263624,2	MCF-7	breast:
26	chr5:177706726..177707270-chr5:178157310..178157911,2	MCF-7	breast:
27	chr5:177688646..177691134-chr5:177692615..177694812,2	MCF-7	breast:
28	chr5:177700241..177704563-chr5:177705321..177708218,5	MCF-7	breast:
29	chr5:177674663..177677489-chr5:177694652..177697569,3	K562	blood:
30	chr5:177695402..177698313-chr5:177774135..177775779,2	K562	blood:
31	chr5:177682641..177685103-chr5:177687845..177689639,2	K562	blood:
32	chr5:177666154..177668382-chr5:177684774..177687012,2	MCF-7	breast:
33	chr5:177694652..177698387-chr5:177701947..177705005,3	MCF-7	breast:
34	chr5:177682641..177685103-chr5:177687845..177689639,2	K562	blood:
35	chr5:177631158..177632989-chr5:177704368..177706626,2	MCF-7	breast:
36	chr5:177687306..177690029-chr5:177710452..177712944,2	MCF-7	breast:
37	chr5:177673184..177676409-chr5:177679568..177684017,5	K562	blood:
38	chr5:177698904..177700407-chr5:177706155..177707702,2	K562	blood:
39	chr5:177669025..177670554-chr5:177680553..177683380,2	MCF-7	breast:
40	chr5:177706712..177707519-chr5:178016864..178017694,3	MCF-7	breast:
41	chr5:177682472..177686138-chr5:177686968..177690671,4	K562	blood:
42	chr5:177698904..177700407-chr5:177706155..177707702,2	K562	blood:
43	chr5:177657753..177659482-chr5:177688552..177690642,2	MCF-7	breast:
44	chr5:177674781..177677713-chr5:177688724..177690382,2	MCF-7	breast:
45	chr5:177706637..177707790-chr5:178017212..178018303,12	K562	blood:
46	chr5:177694652..177698387-chr5:177701947..177705005,3	MCF-7	breast:

No data

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

Extended variants
information (count: 1384 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:1384 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573264767	chr5:177681598-177681599	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs566729555	chr5:177681638-177681639	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs4976753	chr5:177681651-177681652	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs6872403	chr5:177681652-177681653	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs532449098	chr5:177681684-177681685	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs147028183	chr5:177681688-177681689	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs552307537	chr5:177681712-177681713	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs562854379	chr5:177681726-177681727	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs530200656	chr5:177681734-177681735	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs548398824	chr5:177681743-177681744	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs138297806	chr5:177681753-177681754	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs533874865	chr5:177681773-177681774	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs185417751	chr5:177681886-177681887	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs369954155	chr5:177681888-177681889	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs569254999	chr5:177681912-177681913	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs570377289	chr5:177681935-177681936	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs35519588	chr5:177681946-177681947	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs398000049	chr5:177681947-177681948	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs372574551	chr5:177681982-177681983	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs376718430	chr5:177681983-177681984	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs190049396	chr5:177682007-177682008	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs556462915	chr5:177682010-177682011	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs369107371	chr5:177682023-177682024	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs373026035	chr5:177682036-177682037	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs376581716	chr5:177682047-177682048	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs369363952	chr5:177682069-177682070	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs373171398	chr5:177682083-177682084	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs535775696	chr5:177682137-177682138	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs553995455	chr5:177682152-177682153	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs572188975	chr5:177682184-177682185	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs75492078	chr5:177682185-177682186	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs149207441	chr5:177682240-177682241	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs568501444	chr5:177682242-177682243	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs75466082	chr5:177682249-177682250	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs75757302	chr5:177682253-177682254	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs76618811	chr5:177682254-177682255	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs77198548	chr5:177682255-177682256	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs577132335	chr5:177682257-177682258	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs544217155	chr5:177682289-177682290	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs532698923	chr5:177682293-177682294	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs143414123	chr5:177682298-177682299	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs148349820	chr5:177682321-177682322	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs560308012	chr5:177682351-177682352	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs527880971	chr5:177682368-177682369	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs752282	chr5:177682372-177682373	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs570469540	chr5:177682410-177682411	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs368533510	chr5:177682411-177682412	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs549779933	chr5:177682419-177682420	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs568095217	chr5:177682438-177682439	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs115776492	chr5:177682449-177682450	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	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:206 , 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	chr5:177674000-177682400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr5:177674400-177689400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:177677400-177688200	Weak transcription	Right Atrium	heart
5	chr5:177677600-177682000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:177677600-177688600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr5:177679400-177683200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr5:177679800-177682400	Weak transcription	Fetal Muscle Leg	muscle
9	chr5:177679800-177684800	Weak transcription	Primary B cells from peripheral blood	blood
10	chr5:177679800-177688800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:177680200-177684400	Weak transcription	Spleen	Spleen
12	chr5:177681200-177681600	Strong transcription	Fetal Stomach	stomach
13	chr5:177681200-177683400	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr5:177681400-177681800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr5:177681600-177684400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr5:177681800-177684200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr5:177682000-177683000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:177682400-177682600	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr5:177682400-177682800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:177682400-177683000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:177682400-177683000	Enhancers	Fetal Muscle Leg	muscle
22	chr5:177682400-177683800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr5:177682800-177683200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:177682800-177688800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr5:177683000-177683400	Weak transcription	Fetal Muscle Leg	muscle
26	chr5:177683000-177697400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:177683400-177684200	Enhancers	Fetal Muscle Leg	muscle
28	chr5:177684200-177684600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr5:177684400-177685000	Enhancers	Pancreas	Pancrea
30	chr5:177684600-177684800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr5:177684800-177685200	Enhancers	Primary B cells from peripheral blood	blood
32	chr5:177684800-177688800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr5:177685000-177686400	Weak transcription	Pancreas	Pancrea
34	chr5:177686400-177687400	Enhancers	Pancreas	Pancrea
35	chr5:177686600-177688000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr5:177686800-177687600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
37	chr5:177687000-177687400	Enhancers	Duodenum Mucosa	Duodenum
38	chr5:177687400-177688600	Weak transcription	Pancreas	Pancrea
39	chr5:177688600-177689400	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr5:177688800-177689600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr5:177688800-177689600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr5:177688800-177689800	Enhancers	Placenta	Placenta
43	chr5:177688800-177690000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr5:177689000-177689200	Enhancers	Pancreas	Pancrea
45	chr5:177689400-177689600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr5:177689400-177698000	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr5:177689600-177691400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr5:177691400-177691600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr5:177691600-177692200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr5:177692200-177693000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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