Variant report

Variant	esv3382679
Chromosome Location	chr4:20272254-20274202
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:20271116..20273425-chr4:20275227..20278137,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182172118	chr4:20272259-20272260	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs534786729	chr4:20272334-20272335	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564158763	chr4:20272427-20272428	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546347557	chr4:20272434-20272435	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187254854	chr4:20272464-20272465	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375819046	chr4:20272513-20272514	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557585743	chr4:20272550-20272551	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568246328	chr4:20272552-20272553	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1951740	chr4:20272555-20272556	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs116390310	chr4:20272558-20272559	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs200451353	chr4:20272597-20272598	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs77184246	chr4:20272598-20272599	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs398092217	chr4:20272601-20272602	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182827012	chr4:20272653-20272654	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557032875	chr4:20272685-20272686	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546607417	chr4:20272702-20272703	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541110788	chr4:20272726-20272727	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs16869447	chr4:20272735-20272736	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs577682860	chr4:20272790-20272791	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146445431	chr4:20272892-20272893	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569154721	chr4:20272908-20272909	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs16869450	chr4:20272941-20272942	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs13142593	chr4:20272962-20272963	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs536781265	chr4:20273026-20273027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528612820	chr4:20273029-20273030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543348928	chr4:20273087-20273088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs199953107	chr4:20273113-20273114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561310180	chr4:20273116-20273117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs150560362	chr4:20273172-20273173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546662350	chr4:20273173-20273174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs111643961	chr4:20273180-20273181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs78889800	chr4:20273191-20273192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs13143064	chr4:20273197-20273198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs59715782	chr4:20273227-20273228	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs532334151	chr4:20273242-20273243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs34313735	chr4:20273294-20273295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs74589303	chr4:20273300-20273301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569282035	chr4:20273347-20273348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs13143450	chr4:20273348-20273349	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs555668831	chr4:20273376-20273377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs374359194	chr4:20273409-20273410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534833922	chr4:20273452-20273453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs370844528	chr4:20273518-20273519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs554751099	chr4:20273641-20273642	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs139595582	chr4:20273658-20273659	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs577820755	chr4:20273839-20273840	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs377567795	chr4:20273890-20273891	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532202125	chr4:20273894-20273895	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs5856553	chr4:20273895-20273896	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs76884308	chr4:20273902-20273903	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	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
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	17908972	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Cancer	20164919	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20258000-20275400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:20258200-20299400	Weak transcription	Fetal Stomach	stomach
3	chr4:20258400-20274000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr4:20260000-20273600	Weak transcription	Fetal Kidney	kidney
5	chr4:20260000-20273800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr4:20260000-20276200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr4:20261800-20273200	Weak transcription	NHLF	lung
8	chr4:20264800-20273800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr4:20268600-20273600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr4:20268600-20280000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr4:20268800-20283200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr4:20269000-20273400	Weak transcription	NHEK	skin
13	chr4:20269200-20284600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr4:20269400-20273800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr4:20269800-20274000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:20270400-20273000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:20271000-20275600	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr4:20271600-20272400	Weak transcription	NHDF-Ad	bronchial
19	chr4:20271600-20273200	Weak transcription	Osteobl	bone
20	chr4:20271600-20273400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:20271600-20273400	Weak transcription	Fetal Lung	lung
22	chr4:20271800-20273600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr4:20272000-20272800	Enhancers	Colon Smooth Muscle	Colon
24	chr4:20272200-20272600	Enhancers	Brain Anterior Caudate	brain
25	chr4:20272200-20273400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr4:20272200-20274600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr4:20272200-20275000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr4:20272400-20272800	Strong transcription	NHDF-Ad	bronchial
29	chr4:20272800-20273400	Weak transcription	NHDF-Ad	bronchial
30	chr4:20272800-20276000	Weak transcription	Colon Smooth Muscle	Colon
31	chr4:20273000-20275200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:20273200-20274200	Enhancers	NHLF	lung
33	chr4:20273200-20274600	Enhancers	Osteobl	bone
34	chr4:20273400-20273600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr4:20273400-20273600	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr4:20273400-20273800	Enhancers	Rectal Smooth Muscle	rectum
37	chr4:20273400-20273800	Enhancers	NHDF-Ad	bronchial
38	chr4:20273400-20274400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr4:20273400-20274400	Enhancers	Fetal Lung	lung
40	chr4:20273400-20274600	Enhancers	NHEK	skin
41	chr4:20273600-20273800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr4:20273600-20274400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr4:20273600-20274400	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr4:20273600-20274400	Enhancers	Fetal Kidney	kidney
45	chr4:20273800-20274000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr4:20273800-20274600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr4:20273800-20274600	Enhancers	Muscle Satellite Cultured Cells	--
48	chr4:20273800-20274800	Enhancers	NH-A	brain
49	chr4:20273800-20275600	Weak transcription	NHDF-Ad	bronchial
50	chr4:20273800-20278000	Weak transcription	Rectal Smooth Muscle	rectum

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