Variant report

Variant	nsv600397
Chromosome Location	chr5:177719916-177743772
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:177722533..177724102-chr5:177775070..177777242,2	K562	blood:
2	chr5:177675640..177677996-chr5:177730945..177733479,2	K562	blood:
3	chr5:177736569..177737099-chr5:177978277..177978783,2	MCF-7	breast:
4	chr5:177676650..177677786-chr5:177737259..177738171,4	MCF-7	breast:
5	chr5:177712144..177714829-chr5:177719190..177721304,2	MCF-7	breast:
6	chr5:177707050..177707576-chr5:177733039..177733583,2	MCF-7	breast:
7	chr5:177732771..177735579-chr5:177738101..177740737,3	K562	blood:
8	chr5:177723976..177725542-chr5:178052631..178055035,2	K562	blood:
9	chr5:177731199..177733626-chr5:177734789..177737506,2	MCF-7	breast:
10	chr5:177722976..177725589-chr5:177728477..177731343,2	MCF-7	breast:
11	chr5:177722295..177724234-chr5:178015644..178017760,2	K562	blood:
12	chr5:177722976..177725589-chr5:177728477..177731343,2	MCF-7	breast:
13	chr5:177731199..177733626-chr5:177734789..177737506,2	MCF-7	breast:
14	chr5:177732771..177735579-chr5:177738101..177740737,3	K562	blood:
15	chr5:177662161..177662775-chr5:177732667..177733658,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000050767	chromatin interactions
ENSG00000113240	chromatin interactions

Extended variants
information (count: 1129 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:1129 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2913818	chr5:177719916-177719917	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs575971456	chr5:177719922-177719923	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs538150005	chr5:177719937-177719938	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs191434249	chr5:177719938-177719939	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs528878542	chr5:177719993-177719994	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs76709495	chr5:177720002-177720003	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs565643466	chr5:177720023-177720024	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs564615252	chr5:177720058-177720059	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs114942415	chr5:177720067-177720068	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs115592167	chr5:177720071-177720072	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs375827730	chr5:177720083-177720084	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs72819078	chr5:177720089-177720090	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs537991268	chr5:177720100-177720101	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs556577683	chr5:177720110-177720111	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs574859370	chr5:177720134-177720135	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs574914596	chr5:177720140-177720141	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs535869707	chr5:177720146-177720147	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs7380466	chr5:177720154-177720155	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs184687295	chr5:177720169-177720170	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs149539682	chr5:177720185-177720186	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs558990234	chr5:177720190-177720191	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs373087092	chr5:177720197-177720198	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs4976718	chr5:177720225-177720226	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs76980921	chr5:177720237-177720238	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs147191046	chr5:177720248-177720249	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs7378874	chr5:177720253-177720254	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs189425577	chr5:177720317-177720318	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs376987966	chr5:177720360-177720361	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs117813006	chr5:177720371-177720372	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs533114778	chr5:177720374-177720375	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs7379947	chr5:177720395-177720396	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs551536098	chr5:177720408-177720409	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192015485	chr5:177720485-177720486	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374937428	chr5:177720486-177720487	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558169845	chr5:177720520-177720521	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550267098	chr5:177720524-177720525	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550594414	chr5:177720554-177720555	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185154861	chr5:177720562-177720563	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565357290	chr5:177720634-177720635	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs535802800	chr5:177720637-177720638	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs530942860	chr5:177720665-177720666	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs112969869	chr5:177720698-177720699	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs72819081	chr5:177720726-177720727	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs57655833	chr5:177720763-177720764	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs558446266	chr5:177720780-177720781	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs576525629	chr5:177720781-177720782	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs112474013	chr5:177720803-177720804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140552323	chr5:177720843-177720844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561396413	chr5:177720846-177720847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113186836	chr5:177720915-177720916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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

Chromatin state (count:150 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177703600-177728800	Weak transcription	Right Atrium	heart
2	chr5:177716600-177720200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:177718600-177720400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr5:177719000-177720000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr5:177719000-177720800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:177719000-177721000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:177720000-177720600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr5:177720000-177720600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr5:177720000-177720600	Bivalent Enhancer	Fetal Muscle Leg	muscle
10	chr5:177720000-177720600	Bivalent Enhancer	Fetal Stomach	stomach
11	chr5:177720200-177720400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:177720200-177720600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:177720200-177720800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:177720400-177720600	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr5:177720400-177720600	Bivalent Enhancer	Placenta	Placenta
16	chr5:177720600-177721000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr5:177720600-177734600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr5:177720800-177721000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
19	chr5:177721000-177721200	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr5:177721000-177723400	Weak transcription	Fetal Stomach	stomach
21	chr5:177721200-177722600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr5:177722600-177722800	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr5:177722600-177723200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:177722800-177723000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
25	chr5:177723000-177723800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr5:177723000-177725400	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr5:177723200-177723800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr5:177723200-177728000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:177723400-177725000	Strong transcription	Fetal Stomach	stomach
30	chr5:177723800-177725600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr5:177724000-177724200	Enhancers	Esophagus	oesophagus
32	chr5:177724200-177724600	Weak transcription	Esophagus	oesophagus
33	chr5:177724600-177725400	Active TSS	Spleen	Spleen
34	chr5:177724600-177725600	ZNF genes & repeats	Esophagus	oesophagus
35	chr5:177724800-177725000	Bivalent Enhancer	Fetal Muscle Leg	muscle
36	chr5:177725000-177728600	Weak transcription	Fetal Stomach	stomach
37	chr5:177725400-177725600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr5:177725400-177731600	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr5:177725400-177732800	Weak transcription	Spleen	Spleen
40	chr5:177725600-177732600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr5:177728000-177728400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr5:177728400-177733800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:177728600-177729000	ZNF genes & repeats	Fetal Stomach	stomach
44	chr5:177728600-177729000	Enhancers	Gastric	stomach
45	chr5:177728600-177729000	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
46	chr5:177728800-177729000	ZNF genes & repeats	Right Atrium	heart
47	chr5:177729000-177730800	Weak transcription	Fetal Stomach	stomach
48	chr5:177729000-177739000	Weak transcription	Gastric	stomach
49	chr5:177729600-177729800	Bivalent Enhancer	GM12878-XiMat	blood
50	chr5:177730800-177731200	ZNF genes & repeats	Fetal Stomach	stomach

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