Variant report

Variant	nsv984572
Chromosome Location	chr5:177737015-177763963
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:177746428..177748083-chr5:177750133..177752652,2	MCF-7	breast:
2	chr5:177732771..177735579-chr5:177738101..177740737,3	K562	blood:
3	chr5:177751727..177753386-chr5:177758828..177761752,2	MCF-7	breast:
4	chr5:177746428..177748083-chr5:177750133..177752652,2	MCF-7	breast:
5	chr5:177761012..177763612-chr5:177764691..177767517,2	K562	blood:
6	chr5:177757932..177760832-chr5:177771910..177774390,2	K562	blood:
7	chr5:177745925..177747474-chr5:177750084..177752121,2	K562	blood:
8	chr5:177676650..177677786-chr5:177737259..177738171,4	MCF-7	breast:
9	chr5:177731199..177733626-chr5:177734789..177737506,2	MCF-7	breast:
10	chr5:177736569..177737099-chr5:177978277..177978783,2	MCF-7	breast:
11	chr5:177745925..177747474-chr5:177750084..177752121,2	K562	blood:
12	chr5:177751727..177753386-chr5:177758828..177761752,2	MCF-7	breast:

No data

Extended variants
information (count: 1280 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:1280 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73344843	chr5:177737063-177737064	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs73344844	chr5:177737133-177737134	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs190543191	chr5:177737145-177737146	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs576486547	chr5:177737167-177737168	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs543782622	chr5:177737176-177737177	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs561708772	chr5:177737241-177737242	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs567435780	chr5:177737266-177737267	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs201973439	chr5:177737267-177737268	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs72819098	chr5:177737276-177737277	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs73344846	chr5:177737286-177737287	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs533570462	chr5:177737287-177737288	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs551717947	chr5:177737290-177737291	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs563382116	chr5:177737435-177737436	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs530490407	chr5:177737441-177737442	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs559151045	chr5:177737460-177737461	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs183148033	chr5:177737490-177737491	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs575733654	chr5:177737515-177737516	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs560954165	chr5:177737552-177737553	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs567224864	chr5:177737555-177737556	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs113418958	chr5:177737566-177737567	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs534610713	chr5:177737589-177737590	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs139515535	chr5:177737592-177737593	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs571497113	chr5:177737628-177737629	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs538804475	chr5:177737635-177737636	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs543520696	chr5:177737638-177737639	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs188710339	chr5:177737699-177737700	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs573305318	chr5:177737717-177737718	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs537118463	chr5:177737724-177737725	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs192599142	chr5:177737742-177737743	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs573690107	chr5:177737786-177737787	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs541077272	chr5:177737801-177737802	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs558915967	chr5:177737847-177737848	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs199874848	chr5:177737855-177737856	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs17081057	chr5:177737930-177737931	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs578212668	chr5:177737945-177737946	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs528418503	chr5:177737980-177737981	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs545699942	chr5:177737987-177737988	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs563704458	chr5:177737995-177737996	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs375535562	chr5:177738026-177738027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs369867580	chr5:177738035-177738036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531138875	chr5:177738036-177738037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs150508132	chr5:177738042-177738043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs58718587	chr5:177738097-177738098	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs139476191	chr5:177738142-177738143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546646280	chr5:177738156-177738157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs10447306	chr5:177738165-177738166	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs10447307	chr5:177738193-177738194	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs146981744	chr5:177738255-177738256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149740491	chr5:177738291-177738292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2913768	chr5:177738331-177738332	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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:390 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177729000-177739000	Weak transcription	Gastric	stomach
2	chr5:177733400-177737200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
3	chr5:177733800-177737800	Bivalent Enhancer	Fetal Stomach	stomach
4	chr5:177734600-177739200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:177735000-177739000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:177735000-177739200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr5:177735600-177739800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr5:177736000-177737200	Enhancers	Fetal Muscle Leg	muscle
9	chr5:177736400-177738000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr5:177736400-177739200	Weak transcription	Fetal Lung	lung
11	chr5:177736600-177737800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr5:177736800-177737200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:177737200-177738000	Bivalent Enhancer	Fetal Muscle Leg	muscle
14	chr5:177737400-177737800	Enhancers	Right Ventricle	heart
15	chr5:177737800-177738200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr5:177738000-177738200	Enhancers	Esophagus	oesophagus
17	chr5:177738000-177739000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr5:177738200-177738800	Weak transcription	Esophagus	oesophagus
19	chr5:177738200-177742200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr5:177738800-177740200	Enhancers	Esophagus	oesophagus
21	chr5:177739000-177739200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr5:177739000-177739600	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr5:177739000-177739800	Enhancers	Gastric	stomach
24	chr5:177739000-177740000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr5:177739000-177740000	Enhancers	Adipose Nuclei	Adipose
26	chr5:177739000-177740800	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr5:177739200-177739400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr5:177739200-177739600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr5:177739200-177739800	Enhancers	Fetal Lung	lung
30	chr5:177739200-177739800	Bivalent Enhancer	Fetal Stomach	stomach
31	chr5:177739200-177740000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:177739200-177740000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr5:177739200-177740200	Enhancers	H1 Cell Line	embryonic stem cell
34	chr5:177739200-177740200	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr5:177739200-177740400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr5:177739400-177740200	Enhancers	Stomach Mucosa	stomach
37	chr5:177739400-177740400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr5:177739600-177740000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr5:177739600-177740000	Enhancers	NHDF-Ad	bronchial
40	chr5:177739600-177740000	Enhancers	NHEK	skin
41	chr5:177739600-177740200	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr5:177739600-177740400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr5:177739800-177740000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
44	chr5:177739800-177740200	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr5:177739800-177740400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr5:177739800-177741000	Enhancers	Spleen	Spleen
47	chr5:177739800-177747200	Weak transcription	Fetal Lung	lung
48	chr5:177739800-177757800	Weak transcription	Gastric	stomach
49	chr5:177740000-177740200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr5:177740000-177740400	Bivalent Enhancer	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links