Variant report

Variant	nsv969020
Chromosome Location	chr5:177057222-177060702
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:177058691-177058834	MCF-7	breast:	n/a	chr5:177058793-177058803
2	CTCF	chr5:177058750-177058800	MCF-7	breast:	n/a	n/a
3	CTCF	chr5:177058713-177058821	MCF-7	breast:	n/a	chr5:177058793-177058803
4	CTCF	chr5:177058751-177058794	NHEK	skin:	n/a	n/a
5	CTCF	chr5:177058776-177058808	GM19239	blood:	n/a	chr5:177058793-177058803
6	CTCF	chr5:177058705-177058829	MCF-7	breast:	n/a	chr5:177058793-177058803
7	CTCF	chr5:177058714-177058739	Pancreas_OC	pancreas:	n/a	n/a
8	CTCF	chr5:177058739-177058811	GM12892	blood:	n/a	chr5:177058793-177058803
9	CTCF	chr5:177058723-177058830	Hela-S3	cervix:	n/a	chr5:177058793-177058803
10	CTCF	chr5:177058698-177058830	MCF-7	breast:	n/a	chr5:177058793-177058803
11	MYC	chr5:177058739-177058817	MCF-7	breast:	n/a	n/a
12	MYC	chr5:177058728-177058749	MCF-7	breast:	n/a	n/a
13	PBX3	chr5:177057257-177057618	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr5:177060516-177060744	K562	blood:	n/a	n/a
15	POLR2A	chr5:177058656-177058931	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr5:177058702-177058766	MCF-7	breast:	n/a	n/a
17	POLR2A	chr5:177059191-177059250	MCF-7	breast:	n/a	n/a
18	POLR2A	chr5:177059456-177059596	K562	blood:	n/a	n/a
19	POLR2A	chr5:177058416-177058469	MCF-7	breast:	n/a	n/a
20	POLR2A	chr5:177058674-177058701	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:177033397..177036154-chr5:177060023..177062974,2	K562	blood:

Variant related genes	Relation type
ENSG00000246596	TF binding region
ENSG00000027847	chromatin interactions

Extended variants
information (count: 144 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:144 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188325713	chr5:177057280-177057281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564871146	chr5:177057298-177057299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs193197890	chr5:177057331-177057332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs202180827	chr5:177057350-177057351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182992981	chr5:177057387-177057388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7703727	chr5:177057437-177057438	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs562543758	chr5:177057483-177057484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529869089	chr5:177057493-177057494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548203642	chr5:177057515-177057516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs377165808	chr5:177057535-177057536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs377525004	chr5:177057577-177057578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs187033497	chr5:177057649-177057650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs527557110	chr5:177057653-177057654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191138319	chr5:177057710-177057711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571296440	chr5:177057763-177057764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538764119	chr5:177057865-177057866	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs551028036	chr5:177057869-177057870	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs183688052	chr5:177057873-177057874	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs368556900	chr5:177057892-177057893	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs78598662	chr5:177057915-177057916	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs188251708	chr5:177057939-177057940	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs56664111	chr5:177057946-177057947	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs534486707	chr5:177057980-177057981	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs61334447	chr5:177057988-177057989	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs576862625	chr5:177057999-177058000	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs543993311	chr5:177058009-177058010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs78190830	chr5:177058016-177058017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201568307	chr5:177058048-177058049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4046153	chr5:177058051-177058052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574433358	chr5:177058067-177058068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2334992	chr5:177058075-177058076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542033460	chr5:177058084-177058085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192422003	chr5:177058095-177058096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4046152	chr5:177058142-177058143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566691588	chr5:177058143-177058144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs58874818	chr5:177058162-177058163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139441667	chr5:177058166-177058167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs527618830	chr5:177058197-177058198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545649969	chr5:177058287-177058288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564962522	chr5:177058298-177058299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369248026	chr5:177058317-177058318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532504464	chr5:177058348-177058349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs4046151	chr5:177058371-177058372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550687554	chr5:177058384-177058385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2560202	chr5:177058404-177058405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2650325	chr5:177058407-177058408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs708376	chr5:177058422-177058423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544313652	chr5:177058424-177058425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548841822	chr5:177058460-177058461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567031924	chr5:177058471-177058472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Autism	20841430	CNVD
Developmental delay	21147756	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
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177044400-177061800	Weak transcription	Small Intestine	intestine
2	chr5:177046400-177058800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:177046600-177068400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:177046600-177069200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr5:177046600-177069600	Weak transcription	Esophagus	oesophagus
6	chr5:177046800-177058800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr5:177046800-177060200	Weak transcription	Brain Angular Gyrus	brain
8	chr5:177046800-177060800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr5:177046800-177065800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:177046800-177084000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr5:177047000-177058800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:177047000-177079000	Weak transcription	Colon Smooth Muscle	Colon
13	chr5:177047200-177060200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:177047200-177061000	Weak transcription	Brain Hippocampus Middle	brain
15	chr5:177047200-177064000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr5:177047200-177070800	Weak transcription	Pancreas	Pancrea
17	chr5:177047400-177059600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:177047400-177075000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:177047800-177057400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr5:177047800-177059400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr5:177047800-177059400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr5:177047800-177060400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr5:177047800-177068200	Weak transcription	Fetal Intestine Large	intestine
24	chr5:177047800-177069000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr5:177047800-177080200	Weak transcription	Primary B cells from cord blood	blood
26	chr5:177048000-177061200	Weak transcription	Brain Germinal Matrix	brain
27	chr5:177048000-177069000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr5:177048400-177058800	Weak transcription	Thymus	Thymus
29	chr5:177048400-177066800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr5:177048800-177063200	Weak transcription	Fetal Brain Female	brain
31	chr5:177048800-177083600	Weak transcription	Fetal Lung	lung
32	chr5:177049400-177060800	Weak transcription	Fetal Muscle Trunk	muscle
33	chr5:177050000-177058800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr5:177051600-177069000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr5:177051800-177058800	Weak transcription	Aorta	Aorta
36	chr5:177051800-177058800	Weak transcription	Lung	lung
37	chr5:177051800-177080200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr5:177052000-177083200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr5:177052000-177085600	Weak transcription	Gastric	stomach
40	chr5:177052200-177070000	Weak transcription	Primary T cells from cord blood	blood
41	chr5:177052400-177065200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr5:177052800-177060400	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr5:177052800-177060400	Weak transcription	Stomach Smooth Muscle	stomach
44	chr5:177052800-177060800	Weak transcription	Fetal Muscle Leg	muscle
45	chr5:177052800-177068200	Weak transcription	Spleen	Spleen
46	chr5:177052800-177070200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr5:177052800-177070200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr5:177052800-177070400	Weak transcription	Adipose Nuclei	Adipose
49	chr5:177052800-177076400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr5:177053400-177057800	Weak transcription	Fetal Stomach	stomach

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