Variant report

Variant	esv3376283
Chromosome Location	chr5:115430111-115430276
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:21157468..21158972-chr5:115430256..115431756,2	MCF-7	breast:
2	chr5:115423355..115429096-chr5:115429659..115434037,6	K562	blood:
3	chr5:115420483..115422692-chr5:115428367..115432405,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145781	chromatin interactions
ENSG00000271918	chromatin interactions

Extended variants
information (count: 7 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113937863	chr5:115430127-115430128	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs371714682	chr5:115430129-115430130	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs79956365	chr5:115430190-115430191	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs60319156	chr5:115430193-115430194	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs560414889	chr5:115430259-115430260	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs376166777	chr5:115430271-115430272	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs112611543	chr5:115430275-115430276	Weak transcription Strong transcription	Chromatin interactive region	2 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
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
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115421400-115433400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:115421400-115444200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:115421400-115446400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:115421400-115446400	Weak transcription	Esophagus	oesophagus
5	chr5:115421600-115436600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr5:115421800-115448000	Weak transcription	Aorta	Aorta
7	chr5:115422000-115433600	Weak transcription	Stomach Mucosa	stomach
8	chr5:115422400-115437400	Weak transcription	Spleen	Spleen
9	chr5:115422800-115444200	Weak transcription	Pancreas	Pancrea
10	chr5:115423200-115435000	Strong transcription	Primary B cells from peripheral blood	blood
11	chr5:115423800-115430800	Strong transcription	Fetal Thymus	thymus
12	chr5:115423800-115431400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr5:115423800-115431600	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr5:115423800-115433400	Strong transcription	HSMM	muscle
15	chr5:115423800-115437000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr5:115424000-115434600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr5:115424000-115436400	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr5:115424000-115436600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr5:115424000-115437000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:115424200-115430800	Strong transcription	Primary B cells from cord blood	blood
21	chr5:115424200-115430800	Strong transcription	Primary T cells from cord blood	blood
22	chr5:115424200-115435200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:115424200-115437000	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr5:115424400-115435400	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr5:115424400-115438800	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr5:115424600-115431000	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr5:115424800-115430800	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr5:115425800-115438400	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr5:115426000-115431200	Strong transcription	Duodenum Mucosa	Duodenum
30	chr5:115426200-115430800	Strong transcription	Fetal Lung	lung
31	chr5:115426200-115436800	Weak transcription	NHEK	skin
32	chr5:115426400-115432400	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr5:115426600-115431200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr5:115426600-115431200	Strong transcription	HMEC	breast
35	chr5:115426600-115433800	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr5:115426800-115431600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr5:115426800-115431600	Strong transcription	HUVEC	blood vessel
38	chr5:115426800-115436000	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr5:115427000-115431600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr5:115427200-115430800	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr5:115427200-115430800	Strong transcription	Fetal Intestine Large	intestine
42	chr5:115427200-115430800	Strong transcription	K562	blood
43	chr5:115427200-115431200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr5:115427200-115431400	Strong transcription	Primary hematopoietic stem cells	blood
45	chr5:115427200-115431400	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr5:115427200-115431800	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr5:115427200-115433200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr5:115427400-115431000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr5:115427400-115431400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr5:115427600-115434200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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