Variant report

Variant	esv3355537
Chromosome Location	chr3:164030858-164033006
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	chr3:164032173..164034796-chr3:164095339..164097722,2	K562	blood:

Extended variants
information (count: 108 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181160043	chr3:164030874-164030875	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs114537517	chr3:164030886-164030887	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs143063890	chr3:164030917-164030918	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs550230369	chr3:164030944-164030945	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs570152664	chr3:164030988-164030989	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs560322391	chr3:164031060-164031061	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs187014142	chr3:164031075-164031076	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs539180483	chr3:164031104-164031105	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs75776299	chr3:164031116-164031117	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs189810398	chr3:164031135-164031136	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs112239982	chr3:164031163-164031164	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs148227322	chr3:164031167-164031168	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs4563414	chr3:164031174-164031175	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs60932609	chr3:164031176-164031177	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs111669614	chr3:164031179-164031180	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs398062993	chr3:164031185-164031186	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs61649936	chr3:164031186-164031187	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs542999183	chr3:164031214-164031215	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs562986308	chr3:164031215-164031216	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs576528866	chr3:164031216-164031217	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs545838682	chr3:164031245-164031246	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs559194000	chr3:164031253-164031254	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs528256931	chr3:164031263-164031264	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs548108491	chr3:164031289-164031290	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs141251265	chr3:164031292-164031293	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs150782594	chr3:164031295-164031296	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs550193571	chr3:164031308-164031309	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs77648172	chr3:164031313-164031314	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs75010542	chr3:164031317-164031318	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs570016747	chr3:164031357-164031358	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs571308587	chr3:164031379-164031380	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs538648696	chr3:164031393-164031394	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs111547935	chr3:164031423-164031424	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139765628	chr3:164031465-164031466	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187153514	chr3:164031467-164031468	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554709244	chr3:164031519-164031520	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574801334	chr3:164031534-164031535	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189851093	chr3:164031541-164031542	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182125638	chr3:164031557-164031558	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576469306	chr3:164031583-164031584	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535714946	chr3:164031622-164031623	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545463981	chr3:164031640-164031641	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527755535	chr3:164031645-164031646	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559424475	chr3:164031654-164031655	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201160796	chr3:164031656-164031657	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570654004	chr3:164031657-164031658	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184966992	chr3:164031669-164031670	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561821054	chr3:164031682-164031683	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530724145	chr3:164031689-164031690	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143684031	chr3:164031709-164031710	Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Bladder cancer	21909424	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD
Alcoholism	21790672	CNVD
Schizophrenia	20967226	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Acute myeloid leukemia	19651600	CNVD
Autism	19287141	CNVD
Incontinentia Pigmenti	22033527	CNVD
Rett syndrome	21593744	CNVD
Urothelial carcinoma	21177765	CNVD
Autism	20531469	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:164026600-164031400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:164031400-164033800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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