Variant report

Variant	esv3333403
Chromosome Location	chr5:100235653-100237701
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:100235471..100237177-chr5:100239022..100241293,2	MCF-7	breast:
2	chr5:100226559..100228152-chr5:100235251..100237203,2	MCF-7	breast:
3	chr5:100231184..100232741-chr5:100236415..100237958,2	MCF-7	breast:
4	chr5:100160740..100162427-chr5:100234185..100236458,2	K562	blood:
5	chr5:100236783..100238679-chr5:100254153..100256403,2	MCF-7	breast:
6	chr5:100234012..100237081-chr5:100237134..100240433,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000113532	chromatin interactions

Extended variants
information (count: 65 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542777086	chr5:100235662-100235663	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs562054200	chr5:100235695-100235696	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs115919493	chr5:100235699-100235700	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs547548339	chr5:100235736-100235737	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs559831794	chr5:100235738-100235739	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs533354201	chr5:100235739-100235740	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs552111449	chr5:100235742-100235743	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs138838036	chr5:100235774-100235775	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs192181112	chr5:100235806-100235807	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs549589147	chr5:100235807-100235808	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs567737045	chr5:100235826-100235827	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs183789442	chr5:100235836-100235837	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs552786490	chr5:100235843-100235844	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs577231467	chr5:100235846-100235847	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs538202180	chr5:100235955-100235956	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs556860353	chr5:100235971-100235972	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs575159666	chr5:100235972-100235973	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs553806364	chr5:100235988-100235989	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs79941039	chr5:100236007-100236008	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs72778637	chr5:100236019-100236020	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs572946467	chr5:100236085-100236086	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs555182410	chr5:100236151-100236152	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs541555507	chr5:100236202-100236203	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs115277218	chr5:100236217-100236218	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs142844900	chr5:100236287-100236288	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs534623197	chr5:100236294-100236295	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs60960536	chr5:100236299-100236300	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs73162285	chr5:100236337-100236338	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs187617816	chr5:100236349-100236350	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs190602539	chr5:100236351-100236352	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs531264645	chr5:100236442-100236443	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs183197399	chr5:100236466-100236467	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs549408967	chr5:100236504-100236505	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs567891793	chr5:100236514-100236515	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs534869172	chr5:100236645-100236646	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs546294276	chr5:100236674-100236675	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs370696597	chr5:100236695-100236696	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs570984177	chr5:100236698-100236699	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs73777443	chr5:100236699-100236700	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs556571124	chr5:100236721-100236722	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs568488091	chr5:100236722-100236723	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs186992810	chr5:100236728-100236729	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs554557591	chr5:100236773-100236774	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs573003589	chr5:100236801-100236802	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs79681685	chr5:100236818-100236819	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs3756352	chr5:100236848-100236849	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs114693642	chr5:100236856-100236857	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs77680396	chr5:100236873-100236874	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs578168848	chr5:100236890-100236891	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs545498890	chr5:100236958-100236959	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	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
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:359 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:100208000-100235800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:100230800-100236400	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr5:100232600-100245600	Active TSS	GM12878-XiMat	blood
4	chr5:100234000-100236200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr5:100234400-100236400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr5:100234600-100235800	Weak transcription	Right Atrium	heart
7	chr5:100234600-100235800	Weak transcription	Spleen	Spleen
8	chr5:100234600-100236000	Weak transcription	Small Intestine	intestine
9	chr5:100235000-100235800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:100235000-100235800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:100235000-100235800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr5:100235000-100236000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:100235000-100236400	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr5:100235000-100236400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr5:100235200-100236000	Flanking Active TSS	Primary T cells from cord blood	blood
16	chr5:100235200-100236200	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr5:100235400-100235800	Enhancers	Fetal Brain Male	brain
18	chr5:100235400-100236000	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:100235400-100236000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
20	chr5:100235400-100236200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr5:100235400-100236200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
22	chr5:100235400-100236200	Flanking Active TSS	Brain Germinal Matrix	brain
23	chr5:100235400-100236400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
24	chr5:100235400-100236400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr5:100235400-100237000	Active TSS	Rectal Mucosa Donor 31	rectum
26	chr5:100235400-100237400	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr5:100235400-100241400	Active TSS	Duodenum Mucosa	Duodenum
28	chr5:100235600-100235800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr5:100235600-100235800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr5:100235600-100235800	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
31	chr5:100235600-100235800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr5:100235600-100235800	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr5:100235600-100235800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr5:100235600-100235800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
35	chr5:100235600-100235800	Active TSS	Fetal Muscle Leg	muscle
36	chr5:100235600-100235800	Enhancers	Placenta	Placenta
37	chr5:100235600-100235800	Active TSS	HSMM	muscle
38	chr5:100235600-100235800	Enhancers	NH-A	brain
39	chr5:100235600-100235800	Enhancers	NHDF-Ad	bronchial
40	chr5:100235600-100236000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr5:100235600-100236000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr5:100235600-100236000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr5:100235600-100236000	Bivalent/Poised TSS	Liver	Liver
44	chr5:100235600-100236000	Flanking Active TSS	Fetal Brain Female	brain
45	chr5:100235600-100236000	Flanking Active TSS	A549	lung
46	chr5:100235600-100236200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
47	chr5:100235600-100236200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
48	chr5:100235600-100236200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr5:100235600-100236200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr5:100235600-100236200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood

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