Variant report

Variant	esv3340958
Chromosome Location	chr4:1395477-1398325
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:1391126..1393483-chr4:1395042..1398028,2	MCF-7	breast:
2	chr4:1240615..1242380-chr4:1393657..1396651,2	MCF-7	breast:
3	chr4:1397408..1399062-chr4:1402095..1403760,2	K562	blood:
4	chr4:1393172..1395524-chr4:1397007..1399469,2	K562	blood:
5	chr4:1393172..1395524-chr4:1397007..1399469,2	K562	blood:
6	chr4:1394639..1396218-chr4:1403445..1405898,2	MCF-7	breast:
7	chr4:1395958..1398402-chr4:1416178..1419090,2	K562	blood:
8	chr4:1391809..1396481-chr4:1400263..1404304,5	K562	blood:

Extended variants
information (count: 97 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367703074	chr4:1395510-1395511	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
2	rs147758811	chr4:1395511-1395512	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs567528791	chr4:1395517-1395518	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs375249142	chr4:1395577-1395578	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs190834034	chr4:1395579-1395580	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs115521513	chr4:1395618-1395619	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571440768	chr4:1395656-1395657	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538714832	chr4:1395673-1395674	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557347727	chr4:1395679-1395680	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569112082	chr4:1395719-1395720	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536559061	chr4:1395720-1395721	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554610856	chr4:1395723-1395724	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141867454	chr4:1395729-1395730	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573173566	chr4:1395784-1395785	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560259841	chr4:1395806-1395807	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs71606323	chr4:1395835-1395836	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558767105	chr4:1395836-1395837	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577027011	chr4:1395862-1395863	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543941697	chr4:1395878-1395879	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562505888	chr4:1395900-1395901	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs151096049	chr4:1395911-1395912	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543226758	chr4:1395999-1396000	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561274818	chr4:1396055-1396056	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528744125	chr4:1396059-1396060	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546806895	chr4:1396110-1396111	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565109279	chr4:1396111-1396112	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532644326	chr4:1396148-1396149	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550758755	chr4:1396151-1396152	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569327277	chr4:1396275-1396276	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536298613	chr4:1396288-1396289	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561493725	chr4:1396345-1396346	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566803784	chr4:1396374-1396375	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs141058857	chr4:1396443-1396444	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
34	rs183934084	chr4:1396451-1396452	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
35	rs34640463	chr4:1396455-1396456	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
36	rs111622715	chr4:1396459-1396460	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
37	rs370122620	chr4:1396460-1396461	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
38	rs546961651	chr4:1396480-1396481	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
39	rs556025302	chr4:1396509-1396510	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
40	rs150241377	chr4:1396513-1396514	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
41	rs541495585	chr4:1396516-1396517	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
42	rs560770519	chr4:1396524-1396525	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
43	rs113245383	chr4:1396591-1396592	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
44	rs573224752	chr4:1396625-1396626	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372567726	chr4:1396665-1396666	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540479121	chr4:1396968-1396969	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565148641	chr4:1397021-1397022	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532639143	chr4:1397050-1397051	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551154717	chr4:1397086-1397087	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs562871770	chr4:1397112-1397113	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Wolf-Hirschhorn syndrome	21549014	CNVD
Breast cancer	21806811	CNVD
Wolf-Hirschhorn syndrome	22283845	CNVD
Wolf-Hirschhorn syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Wolf-Hirschhorn syndrome	22470819	CNVD
Wolf-Hirschhorn syndrome	18541967	CNVD
sporadic birth defects	19047251	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17142309	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	20932292	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:166 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1391200-1396600	Weak transcription	Right Atrium	heart
2	chr4:1393200-1397000	Weak transcription	Gastric	stomach
3	chr4:1393400-1395800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:1394800-1397400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:1395200-1395600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr4:1395400-1395600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr4:1395400-1395600	Flanking Bivalent TSS/Enh	Spleen	Spleen
8	chr4:1395400-1396800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
9	chr4:1395600-1395800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr4:1395600-1396200	Bivalent Enhancer	Primary B cells from cord blood	blood
11	chr4:1395600-1396200	Bivalent Enhancer	Spleen	Spleen
12	chr4:1395600-1396600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
13	chr4:1395600-1398000	Bivalent Enhancer	Esophagus	oesophagus
14	chr4:1395800-1396000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr4:1395800-1396000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr4:1395800-1397400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
17	chr4:1395800-1397400	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr4:1395800-1399200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr4:1395800-1399400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr4:1396000-1396200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
21	chr4:1396000-1396200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
22	chr4:1396000-1396200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr4:1396000-1396200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr4:1396000-1396200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr4:1396000-1396200	Bivalent Enhancer	Brain Hippocampus Middle	brain
26	chr4:1396000-1396200	Bivalent Enhancer	Fetal Brain Female	brain
27	chr4:1396000-1396400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr4:1396000-1396400	Bivalent Enhancer	Right Ventricle	heart
29	chr4:1396000-1396600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
30	chr4:1396000-1396600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
31	chr4:1396000-1396600	Bivalent Enhancer	Fetal Brain Male	brain
32	chr4:1396000-1397000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
33	chr4:1396000-1397200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr4:1396000-1397400	Bivalent Enhancer	Lung	lung
35	chr4:1396200-1396400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr4:1396200-1396400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
37	chr4:1396200-1396400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr4:1396200-1396400	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr4:1396200-1396400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
40	chr4:1396200-1396400	Bivalent Enhancer	Fetal Muscle Leg	muscle
41	chr4:1396200-1396400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
42	chr4:1396200-1396400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
43	chr4:1396200-1396400	Flanking Bivalent TSS/Enh	Spleen	Spleen
44	chr4:1396200-1396400	Bivalent Enhancer	HMEC	breast
45	chr4:1396200-1396600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
46	chr4:1396200-1396600	Bivalent Enhancer	Ovary	ovary
47	chr4:1396200-1397000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr4:1396200-1397200	Enhancers	Primary B cells from cord blood	blood
49	chr4:1396200-1397200	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
50	chr4:1396200-1397400	Bivalent Enhancer	Liver	Liver

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