Variant report

Variant	esv3457478
Chromosome Location	chr2:33716912-33727989
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:33724900..33727027-chr2:33748735..33751257,2	K562	blood:
2	chr2:33721073..33722993-chr2:33725616..33728253,2	K562	blood:
3	chr2:33718664..33721605-chr2:33823247..33825969,2	MCF-7	breast:
4	chr2:33708290..33711080-chr2:33714152..33717140,3	K562	blood:
5	chr2:33721073..33722993-chr2:33725616..33728253,2	K562	blood:

Variant related genes	Relation type
ENSG00000119812	chromatin interactions
ENSG00000152689	chromatin interactions

Extended variants
information (count: 500 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:500 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564500727	chr2:33716917-33716918	Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
2	rs533716286	chr2:33716918-33716919	Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
3	rs59802064	chr2:33716945-33716946	Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs555672300	chr2:33716988-33716989	Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs560236283	chr2:33716995-33716996	Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs528898281	chr2:33717037-33717038	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs548958088	chr2:33717054-33717055	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs568949704	chr2:33717058-33717059	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs531277013	chr2:33717193-33717194	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs551578456	chr2:33717197-33717198	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs542406012	chr2:33717231-33717232	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs560699764	chr2:33717236-33717237	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
13	rs550012172	chr2:33717252-33717253	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs199570204	chr2:33717267-33717268	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
15	rs191904956	chr2:33717273-33717274	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs567185290	chr2:33717296-33717297	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs535473598	chr2:33717297-33717298	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
18	rs555313528	chr2:33717334-33717335	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
19	rs575723816	chr2:33717340-33717341	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
20	rs183365446	chr2:33717389-33717390	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
21	rs575712228	chr2:33717405-33717406	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs558372762	chr2:33717434-33717435	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
23	rs17013137	chr2:33717435-33717436	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs540781489	chr2:33717488-33717489	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
25	rs560774459	chr2:33717497-33717498	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
26	rs115780476	chr2:33717541-33717542	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
27	rs151131774	chr2:33717555-33717556	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
28	rs562322870	chr2:33717575-33717576	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
29	rs531469393	chr2:33717604-33717605	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
30	rs376565402	chr2:33717617-33717618	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
31	rs551178304	chr2:33717675-33717676	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
32	rs13391694	chr2:33717683-33717684	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs140198913	chr2:33717691-33717692	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
34	rs578054930	chr2:33717720-33717721	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
35	rs547155489	chr2:33717721-33717722	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
36	rs543046267	chr2:33717744-33717745	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
37	rs12470632	chr2:33717791-33717792	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs75332720	chr2:33717877-33717878	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
39	rs538384957	chr2:33717878-33717879	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
40	rs79197397	chr2:33717946-33717947	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
41	rs116807231	chr2:33717986-33717987	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
42	rs573111898	chr2:33717987-33717988	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
43	rs114546880	chr2:33717989-33717990	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
44	rs146955712	chr2:33718032-33718033	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
45	rs17013139	chr2:33718063-33718064	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs554805603	chr2:33718092-33718093	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
47	rs17013143	chr2:33718113-33718114	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs138149374	chr2:33718119-33718120	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
49	rs531204740	chr2:33718132-33718133	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
50	rs376918995	chr2:33718180-33718181	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:210 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33704800-33717600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:33710400-33775400	Weak transcription	Pancreas	Pancrea
3	chr2:33712200-33747600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:33712800-33718600	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr2:33712800-33718800	Enhancers	Psoas Muscle	Psoas
6	chr2:33714200-33717800	Enhancers	Fetal Heart	heart
7	chr2:33714400-33718800	Enhancers	Left Ventricle	heart
8	chr2:33714400-33726000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:33714600-33718000	Enhancers	Primary hematopoietic stem cells	blood
10	chr2:33714600-33718000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:33714600-33718600	Enhancers	Right Ventricle	heart
12	chr2:33714800-33717000	Enhancers	Lung	lung
13	chr2:33715400-33718000	Enhancers	Brain Hippocampus Middle	brain
14	chr2:33715600-33719000	Genic enhancers	Primary B cells from peripheral blood	blood
15	chr2:33715600-33719200	Weak transcription	NHDF-Ad	bronchial
16	chr2:33715800-33717000	Enhancers	Right Atrium	heart
17	chr2:33715800-33717400	Enhancers	Primary B cells from cord blood	blood
18	chr2:33716000-33717800	Weak transcription	Spleen	Spleen
19	chr2:33716000-33721400	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr2:33716400-33718600	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr2:33716600-33718200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
22	chr2:33716800-33717000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:33716800-33717000	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr2:33716800-33717000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr2:33716800-33717600	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr2:33716800-33719400	Weak transcription	Brain Anterior Caudate	brain
27	chr2:33717000-33717400	Weak transcription	Right Atrium	heart
28	chr2:33717000-33720200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:33717000-33722200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:33717000-33723600	Weak transcription	Lung	lung
31	chr2:33717200-33721600	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr2:33717400-33718400	Enhancers	Right Atrium	heart
33	chr2:33717400-33719600	Genic enhancers	Primary B cells from cord blood	blood
34	chr2:33717600-33718400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr2:33717600-33719400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr2:33717800-33718600	Enhancers	Spleen	Spleen
37	chr2:33717800-33720000	Weak transcription	Fetal Heart	heart
38	chr2:33718000-33719200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr2:33718000-33719200	Weak transcription	Brain Hippocampus Middle	brain
40	chr2:33718000-33719400	Weak transcription	Primary hematopoietic stem cells	blood
41	chr2:33718200-33719000	Flanking Active TSS	GM12878-XiMat	blood
42	chr2:33718400-33721000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:33718400-33722400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr2:33718400-33724200	Weak transcription	Right Atrium	heart
45	chr2:33718600-33719200	Weak transcription	Right Ventricle	heart
46	chr2:33718600-33719600	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr2:33718600-33720800	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr2:33718800-33720200	Weak transcription	Left Ventricle	heart
49	chr2:33718800-33720200	Weak transcription	Psoas Muscle	Psoas
50	chr2:33719000-33719600	Active TSS	GM12878-XiMat	blood

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