Variant report

Variant	esv3448024
Chromosome Location	chr5:126415498-126415983
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:126408546..126411993-chr5:126414423..126416954,3	MCF-7	breast:
2	chr5:126408693..126410786-chr5:126410811..126415809,5	K562	blood:
3	chr5:126414653..126417041-chr5:126422824..126425859,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164241	chromatin interactions

Extended variants
information (count: 15 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542039311	chr5:126415504-126415505	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs561996437	chr5:126415555-126415556	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs560392919	chr5:126415563-126415564	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs191208459	chr5:126415612-126415613	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs540214111	chr5:126415622-126415623	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs529039800	chr5:126415723-126415724	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs141603545	chr5:126415810-126415811	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs61146816	chr5:126415811-126415812	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs74957235	chr5:126415812-126415813	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs562583391	chr5:126415827-126415828	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs531490487	chr5:126415854-126415855	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs78261628	chr5:126415886-126415887	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs568355921	chr5:126415933-126415934	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs59740094	chr5:126415940-126415941	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs547749132	chr5:126415969-126415970	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	16397240	CNVD
Parathyroid adenoma	22454399	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126409600-126415600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:126409600-126415600	Weak transcription	K562	blood
3	chr5:126409800-126415600	Weak transcription	NHEK	skin
4	chr5:126409800-126415800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr5:126412200-126416000	Enhancers	HepG2	liver
6	chr5:126412400-126416000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:126412600-126427400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:126412800-126415800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:126412800-126416000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:126412800-126416000	Weak transcription	NHLF	lung
11	chr5:126413200-126417000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr5:126413600-126415600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:126413600-126416000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:126413600-126421800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr5:126413600-126424000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:126413600-126428000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr5:126413800-126415600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr5:126414000-126415600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:126414000-126415600	Weak transcription	Fetal Intestine Small	intestine
20	chr5:126414000-126416200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr5:126414200-126415600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr5:126414200-126415600	Weak transcription	Fetal Intestine Large	intestine
23	chr5:126414800-126415800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:126415000-126416000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr5:126415000-126417000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:126415200-126416800	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr5:126415200-126416800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:126415200-126416800	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr5:126415200-126416800	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr5:126415400-126416800	Enhancers	H1 Cell Line	embryonic stem cell
31	chr5:126415400-126416800	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr5:126415400-126416800	Enhancers	HMEC	breast
33	chr5:126415400-126417200	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr5:126415600-126416200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:126415600-126416200	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr5:126415600-126416200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr5:126415600-126416200	Enhancers	Placenta	Placenta
38	chr5:126415600-126416200	Enhancers	NHEK	skin
39	chr5:126415600-126416400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr5:126415600-126416400	Enhancers	Fetal Intestine Small	intestine
41	chr5:126415600-126416400	Enhancers	K562	blood
42	chr5:126415600-126416600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr5:126415600-126417000	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr5:126415600-126417000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr5:126415600-126417000	Enhancers	Fetal Intestine Large	intestine
46	chr5:126415800-126416400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr5:126415800-126416600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr5:126415800-126416800	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr5:126415800-126417000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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