Variant report

Variant	nsv1031926
Chromosome Location	chr5:177693601-177746378
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:58)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:58 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr5:177666998..177669633-chr5:177705585..177707860,2	MCF-7	breast:
2	chr5:177698904..177700407-chr5:177706155..177707702,2	K562	blood:
3	chr5:177711262..177713126-chr5:177716170..177718163,3	K562	blood:
4	chr5:177658492..177661017-chr5:177701580..177703752,2	MCF-7	breast:
5	chr5:177706996..177707580-chr5:177887844..177888573,2	K562	blood:
6	chr5:177687306..177690029-chr5:177710452..177712944,2	MCF-7	breast:
7	chr5:177674663..177677489-chr5:177694652..177697569,3	K562	blood:
8	chr5:177736569..177737099-chr5:177978277..177978783,2	MCF-7	breast:
9	chr5:177706757..177707961-chr5:178266041..178266913,4	MCF-7	breast:
10	chr5:177732771..177735579-chr5:177738101..177740737,3	K562	blood:
11	chr5:177675640..177677996-chr5:177730945..177733479,2	K562	blood:
12	chr5:177698904..177700407-chr5:177706155..177707702,2	K562	blood:
13	chr5:177712144..177714829-chr5:177719190..177721304,2	MCF-7	breast:
14	chr5:177706726..177707270-chr5:178157310..178157911,2	MCF-7	breast:
15	chr5:177745925..177747474-chr5:177750084..177752121,2	K562	blood:
16	chr5:177707050..177707576-chr5:177733039..177733583,2	MCF-7	breast:
17	chr5:177722976..177725589-chr5:177728477..177731343,2	MCF-7	breast:
18	chr5:177694652..177698387-chr5:177701947..177705005,3	MCF-7	breast:
19	chr5:177706927..177707599-chr5:177977871..177978610,3	MCF-7	breast:
20	chr5:177694652..177698387-chr5:177701947..177705005,3	MCF-7	breast:
21	chr5:177706698..177707593-chr5:177977751..177978699,5	MCF-7	breast:
22	chr5:177631158..177632989-chr5:177704368..177706626,2	MCF-7	breast:
23	chr5:177706637..177707790-chr5:178017212..178018303,12	K562	blood:
24	chr5:177705531..177707369-chr5:177709194..177711179,2	K562	blood:
25	chr5:177732771..177735579-chr5:177738101..177740737,3	K562	blood:
26	chr5:177712144..177714829-chr5:177719190..177721304,2	MCF-7	breast:
27	chr5:177695402..177698313-chr5:177774135..177775779,2	K562	blood:
28	chr5:177707050..177707576-chr5:177733039..177733583,2	MCF-7	breast:
29	chr5:177712048..177714602-chr5:177804410..177806425,2	MCF-7	breast:
30	chr5:177688646..177691134-chr5:177692615..177694812,2	MCF-7	breast:
31	chr5:177706712..177707519-chr5:178016864..178017694,3	MCF-7	breast:
32	chr5:177705531..177707369-chr5:177709194..177711179,2	K562	blood:
33	chr5:177710796..177711682-chr5:178266072..178266614,2	K562	blood:
34	chr5:177711262..177713126-chr5:177716170..177718163,3	K562	blood:
35	chr5:177714990..177717211-chr5:177717437..177719265,2	MCF-7	breast:
36	chr5:177676650..177677786-chr5:177737259..177738171,4	MCF-7	breast:
37	chr5:177722976..177725589-chr5:177728477..177731343,2	MCF-7	breast:
38	chr5:177662161..177662775-chr5:177732667..177733658,2	MCF-7	breast:
39	chr5:177705017..177707369-chr5:177709194..177712378,3	K562	blood:
40	chr5:177708522..177710701-chr5:178921263..178923252,2	K562	blood:
41	chr5:177706743..177707559-chr5:178017553..178018241,3	MCF-7	breast:
42	chr5:177661877..177662434-chr5:177700931..177701850,2	MCF-7	breast:
43	chr5:177700241..177704563-chr5:177705321..177708218,5	MCF-7	breast:
44	chr5:177663359..177666352-chr5:177692543..177695366,2	K562	blood:
45	chr5:177731199..177733626-chr5:177734789..177737506,2	MCF-7	breast:
46	chr5:177731199..177733626-chr5:177734789..177737506,2	MCF-7	breast:
47	chr5:177723976..177725542-chr5:178052631..178055035,2	K562	blood:
48	chr5:177714990..177717211-chr5:177717437..177719265,2	MCF-7	breast:
49	chr5:177722295..177724234-chr5:178015644..178017760,2	K562	blood:
50	chr5:177711262..177713782-chr5:177716663..177718349,2	K562	blood:

No data

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

Extended variants
information (count: 2453 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:2453 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536754540	chr5:177693642-177693643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs555295536	chr5:177693659-177693660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565383978	chr5:177693752-177693753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183477515	chr5:177693753-177693754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531101818	chr5:177693770-177693771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540915890	chr5:177693771-177693772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs145092493	chr5:177693775-177693776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs187373197	chr5:177693810-177693811	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs577540426	chr5:177693900-177693901	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs544773112	chr5:177693918-177693919	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs192205134	chr5:177693961-177693962	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs531786062	chr5:177693973-177693974	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs151181219	chr5:177694011-177694012	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs550054707	chr5:177694083-177694084	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
15	rs562105300	chr5:177694094-177694095	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
16	rs151300618	chr5:177694144-177694145	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
17	rs367898439	chr5:177694163-177694164	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
18	rs548088805	chr5:177694174-177694175	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
19	rs36081935	chr5:177694225-177694226	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
20	rs566348364	chr5:177694237-177694238	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs77755786	chr5:177694238-177694239	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs56289598	chr5:177694273-177694274	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs370917411	chr5:177694292-177694293	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs140754927	chr5:177694303-177694304	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs537144441	chr5:177694305-177694306	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs199707984	chr5:177694309-177694310	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs373742794	chr5:177694310-177694311	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs555210972	chr5:177694312-177694313	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs367858421	chr5:177694350-177694351	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs371373470	chr5:177694364-177694365	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs573564076	chr5:177694369-177694370	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs374916845	chr5:177694377-177694378	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
33	rs184115124	chr5:177694378-177694379	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
34	rs2081871	chr5:177694394-177694395	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
35	rs376864860	chr5:177694395-177694396	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
36	rs367989986	chr5:177694397-177694398	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
37	rs544908148	chr5:177694398-177694399	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
38	rs563496697	chr5:177694400-177694401	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs2081870	chr5:177694402-177694403	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs150124590	chr5:177694414-177694415	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs2081869	chr5:177694425-177694426	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs76100990	chr5:177694492-177694493	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs11249797	chr5:177694533-177694534	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs74989622	chr5:177694548-177694549	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs188152327	chr5:177694607-177694608	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs74797603	chr5:177694614-177694615	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs533618433	chr5:177694683-177694684	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs535448396	chr5:177694702-177694703	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs369916214	chr5:177694731-177694732	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs138379757	chr5:177694781-177694782	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	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:402 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

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	chr5:177693000-177694800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:177693400-177695000	Enhancers	Fetal Heart	heart
6	chr5:177693600-177695400	Enhancers	Right Ventricle	heart
7	chr5:177693800-177694000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
8	chr5:177694000-177694400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
9	chr5:177694000-177695000	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr5:177694000-177695200	Enhancers	Left Ventricle	heart
11	chr5:177694000-177696800	Weak transcription	Fetal Stomach	stomach
12	chr5:177694400-177694800	Enhancers	Fetal Muscle Leg	muscle
13	chr5:177694400-177694800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr5:177694400-177695000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr5:177694800-177695200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr5:177694800-177695200	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr5:177695200-177698600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr5:177695400-177699200	Weak transcription	Right Ventricle	heart
19	chr5:177696600-177699400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr5:177696800-177697200	ZNF genes & repeats	Fetal Stomach	stomach
21	chr5:177697200-177698400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr5:177697400-177698400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:177697800-177698200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr5:177697800-177698400	Enhancers	Fetal Lung	lung
25	chr5:177698000-177698200	Bivalent Enhancer	Fetal Stomach	stomach
26	chr5:177698000-177698600	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr5:177698200-177699000	Enhancers	Fetal Stomach	stomach
28	chr5:177698400-177701200	Weak transcription	Fetal Lung	lung
29	chr5:177698600-177699400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr5:177698600-177701200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr5:177698800-177702600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr5:177699000-177699600	Bivalent Enhancer	Fetal Stomach	stomach
33	chr5:177699000-177701800	Enhancers	Adipose Nuclei	Adipose
34	chr5:177699200-177699400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr5:177699200-177699400	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr5:177699200-177699400	Enhancers	Right Ventricle	heart
37	chr5:177699400-177699600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr5:177699400-177700800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr5:177699400-177700800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr5:177699800-177703200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr5:177700000-177702400	Enhancers	Fetal Muscle Leg	muscle
42	chr5:177700400-177704200	Bivalent Enhancer	Fetal Stomach	stomach
43	chr5:177700600-177702400	Enhancers	Placenta	Placenta
44	chr5:177700800-177701000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr5:177700800-177702200	Enhancers	Lung	lung
46	chr5:177700800-177702400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr5:177701000-177701200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr5:177701000-177702000	Enhancers	HSMMtube	muscle
49	chr5:177701200-177701400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr5:177701200-177701400	Enhancers	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links