Variant report

Variant	esv3442136
Chromosome Location	chr4:10135429-10137677
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:10137029..10138548-chr4:10444331..10446997,2	K562	blood:
2	chr4:10124769..10127534-chr4:10135159..10136966,2	MCF-7	breast:
3	chr4:10137227..10139603-chr4:10183343..10185587,3	K562	blood:

Extended variants
information (count: 99 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528443323	chr4:10135434-10135435	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs62286607	chr4:10135458-10135459	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs113385532	chr4:10135462-10135463	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs555809624	chr4:10135465-10135466	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs535115356	chr4:10135476-10135477	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs577231650	chr4:10135503-10135504	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs538279755	chr4:10135509-10135510	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs143471212	chr4:10135510-10135511	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs367599820	chr4:10135511-10135512	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs572299424	chr4:10135518-10135519	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs185611764	chr4:10135532-10135533	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs76667040	chr4:10135533-10135534	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs145879213	chr4:10135541-10135542	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs576259935	chr4:10135556-10135557	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs544740655	chr4:10135584-10135585	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs138767376	chr4:10135592-10135593	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs533450405	chr4:10135593-10135594	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs573207384	chr4:10135596-10135597	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs546532515	chr4:10136804-10136805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs4358401	chr4:10136807-10136808	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs534075866	chr4:10136809-10136810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs192815279	chr4:10136831-10136832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555738499	chr4:10136834-10136835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs200497290	chr4:10136842-10136843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs201678649	chr4:10136843-10136844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535241108	chr4:10136857-10136858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544230548	chr4:10136874-10136875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs184378068	chr4:10136876-10136877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189330687	chr4:10136883-10136884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs376714982	chr4:10136893-10136894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs58198247	chr4:10136895-10136896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs397941722	chr4:10136897-10136898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs138501326	chr4:10136903-10136904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558951628	chr4:10136911-10136912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs556593178	chr4:10136933-10136934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs115885584	chr4:10136960-10136961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535346697	chr4:10136964-10136965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs189419756	chr4:10136978-10136979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs193124692	chr4:10136981-10136982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs184806940	chr4:10136983-10136984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575455464	chr4:10136987-10136988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs56201573	chr4:10137018-10137019	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs76547354	chr4:10137029-10137030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs529995742	chr4:10137032-10137033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs545872462	chr4:10137034-10137035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564109921	chr4:10137040-10137041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs189271355	chr4:10137041-10137042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs181679869	chr4:10137043-10137044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs546891436	chr4:10137047-10137048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs556261124	chr4:10137050-10137051	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
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
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
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10135400-10135600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
2	chr4:10136800-10137400	Enhancers	NHEK	skin
3	chr4:10136800-10137800	Enhancers	Fetal Heart	heart

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