Variant report

Variant	esv3425883
Chromosome Location	chr5:178010406-178014606
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:178006099..178008478-chr5:178010854..178012707,2	MCF-7	breast:
2	chr5:178011858..178014216-chr5:178015047..178017974,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000050767	chromatin interactions

Extended variants
information (count: 250 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:250 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77561555	chr5:178010421-178010422	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs141089030	chr5:178010492-178010493	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369234563	chr5:178010503-178010504	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551226240	chr5:178010507-178010508	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4441888	chr5:178010528-178010529	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs182840062	chr5:178010553-178010554	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537019991	chr5:178010572-178010573	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138297905	chr5:178010608-178010609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572802434	chr5:178010629-178010630	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575214247	chr5:178010630-178010631	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187743494	chr5:178010643-178010644	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73346583	chr5:178010661-178010662	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs576695675	chr5:178010700-178010701	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544078040	chr5:178010719-178010720	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192736462	chr5:178010757-178010758	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574283529	chr5:178010798-178010799	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149632992	chr5:178010830-178010831	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371181002	chr5:178010838-178010839	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544456955	chr5:178010856-178010857	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540354	chr5:178010865-178010866	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs540371	chr5:178010868-178010869	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs546649017	chr5:178010892-178010893	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185383031	chr5:178010904-178010905	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532891435	chr5:178010911-178010912	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148346471	chr5:178010925-178010926	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543716940	chr5:178010971-178010972	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77724528	chr5:178010976-178010977	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189558219	chr5:178010990-178010991	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536798757	chr5:178010991-178010992	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548278447	chr5:178010995-178010996	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141535586	chr5:178011040-178011041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs533802422	chr5:178011103-178011104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs558294158	chr5:178011106-178011107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576412681	chr5:178011109-178011110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs376396764	chr5:178011110-178011111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537788005	chr5:178011126-178011127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs369702035	chr5:178011127-178011128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs556036206	chr5:178011138-178011139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs574198607	chr5:178011142-178011143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs192028271	chr5:178011165-178011166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561455313	chr5:178011168-178011169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs573284450	chr5:178011263-178011264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs4045513	chr5:178011309-178011310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142266987	chr5:178011310-178011311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540707447	chr5:178011320-178011321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565320397	chr5:178011321-178011322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35682244	chr5:178011344-178011345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565978	chr5:178011365-178011366	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs6881209	chr5:178011366-178011367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544927120	chr5:178011367-178011368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

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	21990379	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:145 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178004200-178012400	Weak transcription	Right Atrium	heart
2	chr5:178004600-178012400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:178005000-178012400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr5:178005200-178012400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:178005400-178012400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:178005400-178012400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr5:178005400-178012400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr5:178005400-178012400	Weak transcription	Gastric	stomach
9	chr5:178009800-178012400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr5:178010000-178011000	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr5:178010000-178012200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr5:178010000-178012400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr5:178010800-178011200	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr5:178011000-178012400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr5:178011400-178012400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:178011600-178012200	Enhancers	Fetal Muscle Trunk	muscle
17	chr5:178011600-178012600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
18	chr5:178011800-178012000	Weak transcription	Fetal Stomach	stomach
19	chr5:178011800-178012800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
20	chr5:178012000-178012200	Weak transcription	Fetal Intestine Small	intestine
21	chr5:178012000-178012200	Enhancers	Fetal Stomach	stomach
22	chr5:178012000-178012400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr5:178012000-178012600	Bivalent Enhancer	Fetal Muscle Leg	muscle
24	chr5:178012200-178012400	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr5:178012200-178012400	Weak transcription	Fetal Stomach	stomach
26	chr5:178012200-178012600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr5:178012200-178012800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
28	chr5:178012400-178012600	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr5:178012400-178012600	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr5:178012400-178012600	Bivalent Enhancer	Stomach Mucosa	stomach
31	chr5:178012400-178012600	ZNF genes & repeats	Spleen	Spleen
32	chr5:178012400-178012800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
33	chr5:178012400-178012800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:178012400-178012800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
35	chr5:178012400-178012800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr5:178012400-178012800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr5:178012400-178012800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
38	chr5:178012400-178012800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
39	chr5:178012400-178012800	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr5:178012400-178012800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr5:178012400-178012800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
42	chr5:178012400-178012800	ZNF genes & repeats	Fetal Intestine Small	intestine
43	chr5:178012400-178012800	ZNF genes & repeats	Fetal Stomach	stomach
44	chr5:178012400-178012800	ZNF genes & repeats	Fetal Thymus	thymus
45	chr5:178012400-178012800	ZNF genes & repeats	Gastric	stomach
46	chr5:178012400-178012800	ZNF genes & repeats	Lung	lung
47	chr5:178012400-178012800	ZNF genes & repeats	Right Atrium	heart
48	chr5:178012400-178012800	Bivalent Enhancer	Right Ventricle	heart
49	chr5:178012400-178012800	ZNF genes & repeats	Thymus	Thymus
50	chr5:178012400-178012800	ZNF genes & repeats	Dnd41	blood

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