Variant report

Variant	esv3470754
Chromosome Location	chr5:147742345-147750111
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:147741494..147743937-chr5:147745806..147748571,2	MCF-7	breast:
2	chr5:147741494..147743937-chr5:147745806..147748571,2	MCF-7	breast:
3	chr5:147745321..147747162-chr5:147755896..147758835,2	K562	blood:
4	chr5:147749453..147751335-chr5:147809233..147810994,2	K562	blood:
5	chr5:147744466..147747279-chr5:147762545..147764556,2	K562	blood:

Variant related genes	Relation type
ENSG00000251330	chromatin interactions
ENSG00000145868	chromatin interactions
ENSG00000247199	chromatin interactions

Extended variants
information (count: 247 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:247 , 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	rs574464914	chr5:147742361-147742362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs71580491	chr5:147742368-147742369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541703644	chr5:147742470-147742471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560298026	chr5:147742494-147742495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs76983291	chr5:147742502-147742503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150586887	chr5:147742535-147742536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374682920	chr5:147742557-147742558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372029885	chr5:147742568-147742569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375124386	chr5:147742583-147742584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192987046	chr5:147742658-147742659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs79510851	chr5:147742682-147742683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567091145	chr5:147742729-147742730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139594750	chr5:147742765-147742766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568618446	chr5:147742796-147742797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs149713680	chr5:147742824-147742825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145531013	chr5:147742854-147742855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73262496	chr5:147742862-147742863	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs534356080	chr5:147742884-147742885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566275398	chr5:147742907-147742908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139165445	chr5:147742920-147742921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375876585	chr5:147742951-147742952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558056287	chr5:147742969-147742970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375655944	chr5:147742978-147742979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569998258	chr5:147742986-147742987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369303859	chr5:147743006-147743007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575552128	chr5:147743086-147743087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs76980125	chr5:147743137-147743138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144002051	chr5:147743160-147743161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146409544	chr5:147743164-147743165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528938648	chr5:147743199-147743200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541918788	chr5:147743230-147743231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs553557792	chr5:147743255-147743256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs111636493	chr5:147743267-147743268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs377010106	chr5:147743269-147743270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs368867701	chr5:147743300-147743301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs546005672	chr5:147743305-147743306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs373072086	chr5:147743335-147743336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs377049024	chr5:147743366-147743367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs184881289	chr5:147743370-147743371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs531635805	chr5:147743382-147743383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs139713524	chr5:147743387-147743388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs78503622	chr5:147743403-147743404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs559442551	chr5:147743411-147743412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs112407864	chr5:147743466-147743467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs533148050	chr5:147743481-147743482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs529240640	chr5:147743492-147743493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551630838	chr5:147743507-147743508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs189720329	chr5:147743614-147743615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs141438810	chr5:147743651-147743652	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569939559	chr5:147743677-147743678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Intellectual disability	22102821	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	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
Breast cancer	21858162	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
Lung cancer	18438408	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Hyperekplexia	16941485	CNVD
Myelofibrosis	22110671	CNVD
Crohn''s disease	20877625	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	17603634	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147709400-147749200	Weak transcription	Psoas Muscle	Psoas
2	chr5:147723600-147751600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:147729200-147762200	Weak transcription	Aorta	Aorta
4	chr5:147730200-147754200	Weak transcription	Left Ventricle	heart
5	chr5:147743200-147744600	Enhancers	Liver	Liver
6	chr5:147743600-147744000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:147745200-147745400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:147747800-147762400	Weak transcription	Ovary	ovary
9	chr5:147748200-147750600	Weak transcription	Brain Germinal Matrix	brain
10	chr5:147748200-147756800	Weak transcription	Fetal Brain Female	brain
11	chr5:147749200-147749600	ZNF genes & repeats	Psoas Muscle	Psoas
12	chr5:147749600-147757400	Weak transcription	Psoas Muscle	Psoas
13	chr5:147749800-147757400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr5:147749800-147762200	Weak transcription	Adipose Nuclei	Adipose
15	chr5:147750000-147756600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr5:147750000-147762400	Weak transcription	Brain Substantia Nigra	brain

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