Variant report

Variant	nsv883208
Chromosome Location	chr5:177692247-177757764
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:63)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:63 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr5:177674663..177677489-chr5:177694652..177697569,3	K562	blood:
2	chr5:177706698..177707593-chr5:177977751..177978699,5	MCF-7	breast:
3	chr5:177705017..177707369-chr5:177709194..177712378,3	K562	blood:
4	chr5:177662161..177662775-chr5:177732667..177733658,2	MCF-7	breast:
5	chr5:177731199..177733626-chr5:177734789..177737506,2	MCF-7	breast:
6	chr5:177712144..177714829-chr5:177719190..177721304,2	MCF-7	breast:
7	chr5:177711262..177713126-chr5:177716170..177718163,3	K562	blood:
8	chr5:177707050..177707576-chr5:177733039..177733583,2	MCF-7	breast:
9	chr5:177722976..177725589-chr5:177728477..177731343,2	MCF-7	breast:
10	chr5:177706927..177707599-chr5:177977871..177978610,3	MCF-7	breast:
11	chr5:177705531..177707369-chr5:177709194..177711179,2	K562	blood:
12	chr5:177745925..177747474-chr5:177750084..177752121,2	K562	blood:
13	chr5:177706726..177707270-chr5:178157310..178157911,2	MCF-7	breast:
14	chr5:177676650..177677786-chr5:177737259..177738171,4	MCF-7	breast:
15	chr5:177706663..177708953-chr5:178261165..178263624,2	MCF-7	breast:
16	chr5:177708522..177710701-chr5:178921263..178923252,2	K562	blood:
17	chr5:177623727..177624647-chr5:177706685..177707211,2	K562	blood:
18	chr5:177731199..177733626-chr5:177734789..177737506,2	MCF-7	breast:
19	chr5:177706757..177707961-chr5:178266041..178266913,4	MCF-7	breast:
20	chr5:177706743..177707559-chr5:178017553..178018241,3	MCF-7	breast:
21	chr5:177710809..177711655-chr5:177978098..177978611,2	MCF-7	breast:
22	chr15:60690033..60690595-chr5:177692810..177693329,2	HCT-116	colon:
23	chr5:177745925..177747474-chr5:177750084..177752121,2	K562	blood:
24	chr5:177722976..177725589-chr5:177728477..177731343,2	MCF-7	breast:
25	chr5:177700241..177704563-chr5:177705321..177708218,5	MCF-7	breast:
26	chr5:177706688..177707297-chr5:177977028..177977867,2	MCF-7	breast:
27	chr5:177694652..177698387-chr5:177701947..177705005,3	MCF-7	breast:
28	chr5:177700241..177704563-chr5:177705321..177708218,5	MCF-7	breast:
29	chr5:177711262..177713782-chr5:177716663..177718349,2	K562	blood:
30	chr5:177706712..177707519-chr5:178016864..178017694,3	MCF-7	breast:
31	chr5:177751727..177753386-chr5:177758828..177761752,2	MCF-7	breast:
32	chr5:177722533..177724102-chr5:177775070..177777242,2	K562	blood:
33	chr5:177661877..177662434-chr5:177700931..177701850,2	MCF-7	breast:
34	chr5:177712144..177714829-chr5:177719190..177721304,2	MCF-7	breast:
35	chr5:177705017..177707369-chr5:177709194..177712378,3	K562	blood:
36	chr5:177714990..177717211-chr5:177717437..177719265,2	MCF-7	breast:
37	chr5:177706996..177707580-chr5:177887844..177888573,2	K562	blood:
38	chr5:177694652..177698387-chr5:177701947..177705005,3	MCF-7	breast:
39	chr5:177746428..177748083-chr5:177750133..177752652,2	MCF-7	breast:
40	chr5:177712048..177714602-chr5:177804410..177806425,2	MCF-7	breast:
41	chr5:177698904..177700407-chr5:177706155..177707702,2	K562	blood:
42	chr5:177663359..177666352-chr5:177692543..177695366,2	K562	blood:
43	chr5:177705531..177707369-chr5:177709194..177711179,2	K562	blood:
44	chr5:177631158..177632989-chr5:177704368..177706626,2	MCF-7	breast:
45	chr5:177698904..177700407-chr5:177706155..177707702,2	K562	blood:
46	chr5:177746428..177748083-chr5:177750133..177752652,2	MCF-7	breast:
47	chr5:177688646..177691134-chr5:177692615..177694812,2	MCF-7	breast:
48	chr5:177732771..177735579-chr5:177738101..177740737,3	K562	blood:
49	chr5:177723976..177725542-chr5:178052631..178055035,2	K562	blood:
50	chr5:177710796..177711682-chr5:178266072..178266614,2	K562	blood:

No data

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

Extended variants
information (count: 3091 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:3091 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2913844	chr5:177692247-177692248	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs538151833	chr5:177692292-177692293	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs73338887	chr5:177692293-177692294	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs116735374	chr5:177692294-177692295	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs542383974	chr5:177692321-177692322	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs73338889	chr5:177692367-177692368	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs572132840	chr5:177692372-177692373	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs577765400	chr5:177692510-177692511	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs545919517	chr5:177692514-177692515	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs191018747	chr5:177692527-177692528	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs531378585	chr5:177692552-177692553	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs182685351	chr5:177692592-177692593	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs139727156	chr5:177692603-177692604	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs9329140	chr5:177692638-177692639	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs529195251	chr5:177692669-177692670	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs543540242	chr5:177692673-177692674	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs547155085	chr5:177692715-177692716	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs149801121	chr5:177692781-177692782	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs527730785	chr5:177692794-177692795	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs114075732	chr5:177692848-177692849	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs116342830	chr5:177692853-177692854	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs538268572	chr5:177692886-177692887	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs4976754	chr5:177692895-177692896	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs556307276	chr5:177692911-177692912	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs188998007	chr5:177692912-177692913	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs535784549	chr5:177692932-177692933	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs554361026	chr5:177692994-177692995	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs572726036	chr5:177693046-177693047	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs545905428	chr5:177693047-177693048	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs557922308	chr5:177693068-177693069	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs577049313	chr5:177693072-177693073	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs11742834	chr5:177693073-177693074	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs145705710	chr5:177693076-177693077	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs190904012	chr5:177693080-177693081	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs139566630	chr5:177693111-177693112	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs559117229	chr5:177693125-177693126	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs532997963	chr5:177693186-177693187	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs552235056	chr5:177693202-177693203	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs564578849	chr5:177693214-177693215	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs531730426	chr5:177693226-177693227	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs550109485	chr5:177693232-177693233	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs2913843	chr5:177693249-177693250	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs536144607	chr5:177693265-177693266	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs146646523	chr5:177693319-177693320	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs112321617	chr5:177693337-177693338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566262332	chr5:177693382-177693383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371796052	chr5:177693387-177693388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559997231	chr5:177693398-177693399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11742935	chr5:177693401-177693402	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs558405006	chr5:177693453-177693454	Weak transcription Enhancers	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:585 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177669800-177699200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr5:177683000-177697400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:177689400-177698000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr5:177692200-177693000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:177693000-177694800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:177693400-177695000	Enhancers	Fetal Heart	heart
7	chr5:177693600-177695400	Enhancers	Right Ventricle	heart
8	chr5:177693800-177694000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
9	chr5:177694000-177694400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
10	chr5:177694000-177695000	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr5:177694000-177695200	Enhancers	Left Ventricle	heart
12	chr5:177694000-177696800	Weak transcription	Fetal Stomach	stomach
13	chr5:177694400-177694800	Enhancers	Fetal Muscle Leg	muscle
14	chr5:177694400-177694800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr5:177694400-177695000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr5:177694800-177695200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr5:177694800-177695200	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr5:177695200-177698600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr5:177695400-177699200	Weak transcription	Right Ventricle	heart
20	chr5:177696600-177699400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr5:177696800-177697200	ZNF genes & repeats	Fetal Stomach	stomach
22	chr5:177697200-177698400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr5:177697400-177698400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:177697800-177698200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr5:177697800-177698400	Enhancers	Fetal Lung	lung
26	chr5:177698000-177698200	Bivalent Enhancer	Fetal Stomach	stomach
27	chr5:177698000-177698600	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr5:177698200-177699000	Enhancers	Fetal Stomach	stomach
29	chr5:177698400-177701200	Weak transcription	Fetal Lung	lung
30	chr5:177698600-177699400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr5:177698600-177701200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr5:177698800-177702600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr5:177699000-177699600	Bivalent Enhancer	Fetal Stomach	stomach
34	chr5:177699000-177701800	Enhancers	Adipose Nuclei	Adipose
35	chr5:177699200-177699400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr5:177699200-177699400	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr5:177699200-177699400	Enhancers	Right Ventricle	heart
38	chr5:177699400-177699600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr5:177699400-177700800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr5:177699400-177700800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr5:177699800-177703200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr5:177700000-177702400	Enhancers	Fetal Muscle Leg	muscle
43	chr5:177700400-177704200	Bivalent Enhancer	Fetal Stomach	stomach
44	chr5:177700600-177702400	Enhancers	Placenta	Placenta
45	chr5:177700800-177701000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr5:177700800-177702200	Enhancers	Lung	lung
47	chr5:177700800-177702400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr5:177701000-177701200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr5:177701000-177702000	Enhancers	HSMMtube	muscle
50	chr5:177701200-177701400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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