Variant report

Variant	esv3441679
Chromosome Location	chr5:115230797-115238631
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:115231047..115233033-chr5:115237062..115238617,2	MCF-7	breast:
2	chr5:115176895..115178900-chr5:115236267..115238084,2	MCF-7	breast:
3	chr5:115232531..115235335-chr5:115239466..115241502,2	MCF-7	breast:
4	chr5:115231047..115233033-chr5:115237062..115238617,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000177879	chromatin interactions
ENSG00000145782	chromatin interactions

Extended variants
information (count: 297 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:297 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201252221	chr5:115230861-115230862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs34809631	chr5:115230871-115230872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545965921	chr5:115230881-115230882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs202180421	chr5:115230887-115230888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573149398	chr5:115230905-115230906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542244139	chr5:115230906-115230907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs200549757	chr5:115230973-115230974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562087761	chr5:115231008-115231009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531245636	chr5:115231026-115231027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544793931	chr5:115231043-115231044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368069537	chr5:115231048-115231049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs370212277	chr5:115231052-115231053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533611818	chr5:115231075-115231076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191701378	chr5:115231104-115231105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529341666	chr5:115231116-115231117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550707606	chr5:115231144-115231145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs376097153	chr5:115231195-115231196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs141277882	chr5:115231200-115231201	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115956225	chr5:115231201-115231202	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145078397	chr5:115231241-115231242	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536924549	chr5:115231287-115231288	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539767343	chr5:115231300-115231301	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570544276	chr5:115231370-115231371	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs28599770	chr5:115231390-115231391	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs35856532	chr5:115231451-115231452	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138812488	chr5:115231499-115231500	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573295290	chr5:115231586-115231587	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184666012	chr5:115231624-115231625	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77691444	chr5:115231657-115231658	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575738564	chr5:115231658-115231659	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558888408	chr5:115231660-115231661	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564842416	chr5:115231666-115231667	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188265649	chr5:115231667-115231668	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540824869	chr5:115231671-115231672	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559145773	chr5:115231685-115231686	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528189431	chr5:115231708-115231709	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372276488	chr5:115231725-115231726	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368637373	chr5:115231782-115231783	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547908116	chr5:115231794-115231795	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs193257223	chr5:115231801-115231802	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530463588	chr5:115231851-115231852	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550456533	chr5:115231871-115231872	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs141984902	chr5:115231879-115231880	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539214036	chr5:115231896-115231897	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546787314	chr5:115231897-115231898	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566822882	chr5:115231904-115231905	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs116165835	chr5:115231932-115231933	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555932940	chr5:115231963-115231964	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185405879	chr5:115232023-115232024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs190605631	chr5:115232065-115232066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	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
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD
Prostate cancer	22341455	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:162 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115189800-115235800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr5:115193200-115239000	Weak transcription	Gastric	stomach
3	chr5:115193600-115234600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr5:115195400-115263200	Weak transcription	Aorta	Aorta
5	chr5:115196000-115233600	Weak transcription	Esophagus	oesophagus
6	chr5:115203400-115233400	Weak transcription	Fetal Brain Male	brain
7	chr5:115205600-115254200	Weak transcription	Small Intestine	intestine
8	chr5:115207600-115233600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr5:115207600-115238400	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr5:115207600-115239200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr5:115207600-115244600	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr5:115207600-115253800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr5:115207600-115254600	Weak transcription	Fetal Kidney	kidney
14	chr5:115207800-115250800	Weak transcription	Adipose Nuclei	Adipose
15	chr5:115207800-115254000	Weak transcription	Colon Smooth Muscle	Colon
16	chr5:115208000-115253400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr5:115208200-115236000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr5:115208600-115235600	Weak transcription	Primary B cells from peripheral blood	blood
19	chr5:115209200-115234200	Weak transcription	HSMM	muscle
20	chr5:115209400-115231200	Weak transcription	NHDF-Ad	bronchial
21	chr5:115209400-115232600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:115209800-115234000	Weak transcription	HUVEC	blood vessel
23	chr5:115212000-115236000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr5:115212600-115238200	Weak transcription	Dnd41	blood
25	chr5:115217800-115234000	Weak transcription	GM12878-XiMat	blood
26	chr5:115218600-115253000	Weak transcription	Placenta	Placenta
27	chr5:115218800-115253600	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr5:115219000-115252800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr5:115219200-115231000	Weak transcription	NH-A	brain
30	chr5:115219200-115233600	Weak transcription	Fetal Muscle Leg	muscle
31	chr5:115219200-115234000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr5:115219200-115252800	Weak transcription	Pancreas	Pancrea
33	chr5:115219200-115253200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr5:115219400-115231000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr5:115219400-115233600	Weak transcription	Primary T cells from cord blood	blood
36	chr5:115219400-115234000	Weak transcription	Fetal Muscle Trunk	muscle
37	chr5:115219400-115234200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr5:115219400-115234200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr5:115219400-115234200	Weak transcription	Stomach Smooth Muscle	stomach
40	chr5:115219400-115234400	Weak transcription	Left Ventricle	heart
41	chr5:115219400-115236200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr5:115219400-115246800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr5:115219400-115251000	Weak transcription	Fetal Lung	lung
44	chr5:115219400-115252600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr5:115219600-115231200	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr5:115219600-115231400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr5:115219600-115256000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:115221400-115253800	Weak transcription	Fetal Stomach	stomach
49	chr5:115221400-115254400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr5:115222000-115252800	Weak transcription	Fetal Intestine Small	intestine

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