Variant report

Variant	esv3324070
Chromosome Location	chr4:22907354-22911652
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528749036	chr4:22907412-22907413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs557905365	chr4:22907419-22907420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540938712	chr4:22907425-22907426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189561034	chr4:22907473-22907474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182808793	chr4:22907493-22907494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs116093637	chr4:22907494-22907495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs77871304	chr4:22907526-22907527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560559759	chr4:22907549-22907550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529893699	chr4:22907612-22907613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548031131	chr4:22907672-22907673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs529595770	chr4:22907730-22907731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549512019	chr4:22907740-22907741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs566337426	chr4:22907775-22907776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs202106782	chr4:22907786-22907787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188162830	chr4:22907789-22907790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs200446066	chr4:22907790-22907791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs552074350	chr4:22907793-22907794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570092075	chr4:22907806-22907807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569396964	chr4:22907828-22907829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540758982	chr4:22907839-22907840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs200397427	chr4:22907868-22907869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537477239	chr4:22907930-22907931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs73800829	chr4:22907983-22907984	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs112184747	chr4:22907987-22907988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552761233	chr4:22908088-22908089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535540307	chr4:22908097-22908098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs555160997	chr4:22908123-22908124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs573492854	chr4:22908185-22908186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs191334635	chr4:22908209-22908210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs76505455	chr4:22908216-22908217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs114385454	chr4:22908257-22908258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs566108177	chr4:22908304-22908305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs544322908	chr4:22908318-22908319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs562901866	chr4:22908325-22908326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs530095871	chr4:22908331-22908332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs548289318	chr4:22908345-22908346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs186097865	chr4:22911616-22911617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs547645748	chr4:22911639-22911640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs80027958	chr4:22911649-22911650	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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22906400-22908400	Enhancers	Fetal Intestine Small	intestine
2	chr4:22906800-22908200	Enhancers	Duodenum Mucosa	Duodenum
3	chr4:22907200-22907600	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr4:22907200-22908200	Enhancers	Fetal Intestine Large	intestine
5	chr4:22907800-22908200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:22911600-22913000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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