Variant report

Variant	esv2830327
Chromosome Location	chr4:22895460-22918094
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	chr4:22899142..22899801-chr4:24420786..24421361,2	MCF-7	breast:

Extended variants
information (count: 558 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:558 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542913646	chr4:22896476-22896477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs188054969	chr4:22896499-22896500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143978309	chr4:22896556-22896557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567354571	chr4:22896563-22896564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550887828	chr4:22896581-22896582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562837142	chr4:22896604-22896605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs193073684	chr4:22896618-22896619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182965976	chr4:22896638-22896639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs28642161	chr4:22896670-22896671	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs539667297	chr4:22896674-22896675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558009153	chr4:22896684-22896685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570053239	chr4:22896685-22896686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537042733	chr4:22896724-22896725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs192275677	chr4:22896726-22896727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555427537	chr4:22896745-22896746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs377508650	chr4:22896778-22896779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541129943	chr4:22896799-22896800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187515727	chr4:22896838-22896839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565650685	chr4:22896878-22896879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577738765	chr4:22896949-22896950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192948752	chr4:22896965-22896966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565405102	chr4:22896989-22896990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563567044	chr4:22897022-22897023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530875922	chr4:22897036-22897037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs75750621	chr4:22897088-22897089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560684766	chr4:22897144-22897145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs375279070	chr4:22897172-22897173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs76430974	chr4:22897184-22897185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs534604628	chr4:22897194-22897195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs376801882	chr4:22897214-22897215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs146510805	chr4:22897215-22897216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs3222860	chr4:22897216-22897217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs61393618	chr4:22897246-22897247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs61792194	chr4:22897247-22897248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs546350602	chr4:22897249-22897250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs571348902	chr4:22897290-22897291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs372573346	chr4:22897339-22897340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs183846210	chr4:22897362-22897363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs569918138	chr4:22897403-22897404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs537306660	chr4:22897404-22897405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs188522632	chr4:22897480-22897481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs554663882	chr4:22897534-22897535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535635346	chr4:22897602-22897603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567521673	chr4:22897635-22897636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs192251492	chr4:22897637-22897638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs184273594	chr4:22897673-22897674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs10008649	chr4:22897697-22897698	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs545222674	chr4:22897737-22897738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537197255	chr4:22897798-22897799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs575522407	chr4:22897838-22897839	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	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
Wilms tumour	21544195	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Cancer	22183965	CNVD
Gastric cancer	16891809	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22896400-22899200	Enhancers	HepG2	liver
2	chr4:22896800-22898000	Enhancers	Liver	Liver
3	chr4:22898200-22899000	Enhancers	Fetal Lung	lung
4	chr4:22898600-22899200	Enhancers	Fetal Intestine Small	intestine
5	chr4:22899000-22902400	Weak transcription	Fetal Lung	lung
6	chr4:22899400-22901000	Enhancers	Primary hematopoietic stem cells	blood
7	chr4:22899400-22901200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr4:22900000-22901200	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr4:22900000-22901200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr4:22900400-22900800	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr4:22901200-22905200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr4:22902200-22903000	Enhancers	Colon Smooth Muscle	Colon
13	chr4:22902400-22903000	Enhancers	Fetal Lung	lung
14	chr4:22902600-22903000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr4:22902800-22903200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:22903000-22903600	Weak transcription	Fetal Lung	lung
17	chr4:22903200-22903400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:22903400-22903800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:22903600-22903800	Enhancers	Fetal Lung	lung
20	chr4:22903600-22904200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr4:22905200-22905800	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr4:22905200-22906000	Enhancers	Fetal Heart	heart
23	chr4:22905800-22906000	Enhancers	Duodenum Mucosa	Duodenum
24	chr4:22906000-22906800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr4:22906400-22908400	Enhancers	Fetal Intestine Small	intestine
26	chr4:22906800-22908200	Enhancers	Duodenum Mucosa	Duodenum
27	chr4:22907200-22907600	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr4:22907200-22908200	Enhancers	Fetal Intestine Large	intestine
29	chr4:22907800-22908200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr4:22911600-22913000	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr4:22912000-22912400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr4:22912000-22914200	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr4:22913000-22914000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr4:22913200-22913800	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr4:22913200-22914200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr4:22913400-22914000	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr4:22913400-22914200	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr4:22913600-22914200	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr4:22914000-22914200	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr4:22914200-22915200	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr4:22914200-22916200	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr4:22915200-22915600	Enhancers	Primary monocytes fromperipheralblood	blood

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