Variant report

Variant	nsv883203
Chromosome Location	chr5:177682664-177766183
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:81)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:81 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr5:177673184..177676409-chr5:177679568..177684017,5	K562	blood:
2	chr5:177745925..177747474-chr5:177750084..177752121,2	K562	blood:
3	chr5:177676650..177677786-chr5:177737259..177738171,4	MCF-7	breast:
4	chr5:177706698..177707593-chr5:177977751..177978699,5	MCF-7	breast:
5	chr5:177714990..177717211-chr5:177717437..177719265,2	MCF-7	breast:
6	chr5:177680211..177682699-chr5:177684964..177686597,2	K562	blood:
7	chr5:177710809..177711655-chr5:177978098..177978611,2	MCF-7	breast:
8	chr5:177631158..177632989-chr5:177704368..177706626,2	MCF-7	breast:
9	chr5:177731199..177733626-chr5:177734789..177737506,2	MCF-7	breast:
10	chr5:177688646..177691134-chr5:177692615..177694812,2	MCF-7	breast:
11	chr5:177722976..177725589-chr5:177728477..177731343,2	MCF-7	breast:
12	chr5:177706712..177707519-chr5:178016864..178017694,3	MCF-7	breast:
13	chr5:177751727..177753386-chr5:177758828..177761752,2	MCF-7	breast:
14	chr5:177706757..177707961-chr5:178266041..178266913,4	MCF-7	breast:
15	chr5:177707050..177707576-chr5:177733039..177733583,2	MCF-7	breast:
16	chr5:177688646..177691134-chr5:177692615..177694812,2	MCF-7	breast:
17	chr5:177751727..177753386-chr5:177758828..177761752,2	MCF-7	breast:
18	chr5:177711262..177713782-chr5:177716663..177718349,2	K562	blood:
19	chr5:177732771..177735579-chr5:177738101..177740737,3	K562	blood:
20	chr5:177746428..177748083-chr5:177750133..177752652,2	MCF-7	breast:
21	chr5:177710796..177711682-chr5:178266072..178266614,2	K562	blood:
22	chr5:177764211..177766744-chr5:177842337..177844246,2	MCF-7	breast:
23	chr5:177658492..177661017-chr5:177701580..177703752,2	MCF-7	breast:
24	chr5:177666998..177669633-chr5:177705585..177707860,2	MCF-7	breast:
25	chr5:177687306..177690029-chr5:177710452..177712944,2	MCF-7	breast:
26	chr5:177711262..177713126-chr5:177716170..177718163,3	K562	blood:
27	chr5:177706927..177707599-chr5:177977871..177978610,3	MCF-7	breast:
28	chr5:177663359..177666352-chr5:177692543..177695366,2	K562	blood:
29	chr15:60690033..60690595-chr5:177692810..177693329,2	HCT-116	colon:
30	chr5:177711262..177713782-chr5:177716663..177718349,2	K562	blood:
31	chr5:177707050..177707576-chr5:177733039..177733583,2	MCF-7	breast:
32	chr5:177761012..177763612-chr5:177764691..177767517,2	K562	blood:
33	chr5:177682472..177686138-chr5:177686968..177690671,4	K562	blood:
34	chr5:177700241..177704563-chr5:177705321..177708218,5	MCF-7	breast:
35	chr5:177657753..177659482-chr5:177688552..177690642,2	MCF-7	breast:
36	chr5:177723976..177725542-chr5:178052631..178055035,2	K562	blood:
37	chr5:177722976..177725589-chr5:177728477..177731343,2	MCF-7	breast:
38	chr5:177706688..177707297-chr5:177977028..177977867,2	MCF-7	breast:
39	chr5:177761012..177763612-chr5:177764691..177767517,2	K562	blood:
40	chr5:177712048..177714602-chr5:177804410..177806425,2	MCF-7	breast:
41	chr5:177623727..177624647-chr5:177706685..177707211,2	K562	blood:
42	chr5:177698904..177700407-chr5:177706155..177707702,2	K562	blood:
43	chr5:177736569..177737099-chr5:177978277..177978783,2	MCF-7	breast:
44	chr5:177669025..177670554-chr5:177680553..177683380,2	MCF-7	breast:
45	chr5:177706637..177707790-chr5:178017212..178018303,12	K562	blood:
46	chr5:177674781..177677713-chr5:177688724..177690382,2	MCF-7	breast:
47	chr5:177706726..177707270-chr5:178157310..178157911,2	MCF-7	breast:
48	chr5:177705531..177707369-chr5:177709194..177711179,2	K562	blood:
49	chr5:177708522..177710701-chr5:178921263..178923252,2	K562	blood:
50	chr5:177705017..177707369-chr5:177709194..177712378,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000175309	chromatin interactions
ENSG00000169131	chromatin interactions
ENSG00000197451	chromatin interactions
ENSG00000113240	chromatin interactions
ENSG00000182718	chromatin interactions
ENSG00000050767	chromatin interactions
ENSG00000242341	chromatin interactions

Extended variants
information (count: 3995 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:3995 , 50 per page) page: 1 2 3 4 5 6 7 ... 80

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs752283	chr5:177682664-177682665	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs368424763	chr5:177682775-177682776	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs141541013	chr5:177682802-177682803	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs542069667	chr5:177682823-177682824	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs577434125	chr5:177682860-177682861	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs146369708	chr5:177682866-177682867	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs527852098	chr5:177682880-177682881	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs376941594	chr5:177683003-177683004	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs890805	chr5:177683011-177683012	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs564729225	chr5:177683020-177683021	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs890804	chr5:177683029-177683030	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs549943441	chr5:177683041-177683042	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs568060368	chr5:177683045-177683046	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs576229452	chr5:177683050-177683051	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs138570360	chr5:177683071-177683072	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs2335245	chr5:177683075-177683076	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs565854684	chr5:177683085-177683086	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs539594427	chr5:177683089-177683090	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs560626027	chr5:177683103-177683104	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs557647840	chr5:177683111-177683112	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs527418077	chr5:177683184-177683185	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs890803	chr5:177683185-177683186	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs201756743	chr5:177683209-177683210	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs556240239	chr5:177683236-177683237	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs546980265	chr5:177683246-177683247	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs535469684	chr5:177683248-177683249	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs554417690	chr5:177683280-177683281	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs181175170	chr5:177683289-177683290	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs546510197	chr5:177683306-177683307	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs564511086	chr5:177683330-177683331	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs185741453	chr5:177683332-177683333	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs374699829	chr5:177683344-177683345	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs201638575	chr5:177683355-177683356	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs374627586	chr5:177683373-177683374	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs188250733	chr5:177683375-177683376	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs890802	chr5:177683377-177683378	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs201173983	chr5:177683382-177683383	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs141642971	chr5:177683389-177683390	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs368116495	chr5:177683424-177683425	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs547102594	chr5:177683427-177683428	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs559331282	chr5:177683445-177683446	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs11948620	chr5:177683459-177683460	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs551696548	chr5:177683470-177683471	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs569463000	chr5:177683508-177683509	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs536856329	chr5:177683555-177683556	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs549825335	chr5:177683571-177683572	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs116540747	chr5:177683572-177683573	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs535581611	chr5:177683612-177683613	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs553863279	chr5:177683640-177683641	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs112508382	chr5:177683643-177683644	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:796 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177669800-177699200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr5:177674400-177689400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:177677400-177688200	Weak transcription	Right Atrium	heart
4	chr5:177677600-177688600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr5:177679400-177683200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr5:177679800-177684800	Weak transcription	Primary B cells from peripheral blood	blood
7	chr5:177679800-177688800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:177680200-177684400	Weak transcription	Spleen	Spleen
9	chr5:177681200-177683400	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr5:177681600-177684400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr5:177681800-177684200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr5:177682000-177683000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:177682400-177682800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:177682400-177683000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:177682400-177683000	Enhancers	Fetal Muscle Leg	muscle
16	chr5:177682400-177683800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr5:177682800-177683200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:177682800-177688800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:177683000-177683400	Weak transcription	Fetal Muscle Leg	muscle
20	chr5:177683000-177697400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:177683400-177684200	Enhancers	Fetal Muscle Leg	muscle
22	chr5:177684200-177684600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr5:177684400-177685000	Enhancers	Pancreas	Pancrea
24	chr5:177684600-177684800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr5:177684800-177685200	Enhancers	Primary B cells from peripheral blood	blood
26	chr5:177684800-177688800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr5:177685000-177686400	Weak transcription	Pancreas	Pancrea
28	chr5:177686400-177687400	Enhancers	Pancreas	Pancrea
29	chr5:177686600-177688000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr5:177686800-177687600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
31	chr5:177687000-177687400	Enhancers	Duodenum Mucosa	Duodenum
32	chr5:177687400-177688600	Weak transcription	Pancreas	Pancrea
33	chr5:177688600-177689400	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr5:177688800-177689600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr5:177688800-177689600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr5:177688800-177689800	Enhancers	Placenta	Placenta
37	chr5:177688800-177690000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr5:177689000-177689200	Enhancers	Pancreas	Pancrea
39	chr5:177689400-177689600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr5:177689400-177698000	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr5:177689600-177691400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr5:177691400-177691600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr5:177691600-177692200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr5:177692200-177693000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr5:177693000-177694800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr5:177693400-177695000	Enhancers	Fetal Heart	heart
47	chr5:177693600-177695400	Enhancers	Right Ventricle	heart
48	chr5:177693800-177694000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
49	chr5:177694000-177694400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
50	chr5:177694000-177695000	Enhancers	Skeletal Muscle Female	skeletal muscle

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