Variant report

Variant	nsv877889
Chromosome Location	chr3:163968625-164018044
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:163988892..163990964-chr3:163991912..163993953,2	K562	blood:
2	chr3:163968485..163970197-chr3:163971709..163973734,2	MCF-7	breast:
3	chr3:163995585..163997750-chr3:164093655..164096327,2	K562	blood:
4	chr3:163988892..163990964-chr3:163991912..163993953,2	K562	blood:
5	chr3:163968485..163970197-chr3:163971709..163973734,2	MCF-7	breast:

Extended variants
information (count: 1882 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:1882 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13059129	chr3:163968625-163968626	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs576171763	chr3:163968626-163968627	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113436276	chr3:163968657-163968658	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs180722290	chr3:163968670-163968671	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185767877	chr3:163968689-163968690	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35454719	chr3:163968701-163968702	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs372098784	chr3:163968717-163968718	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190134980	chr3:163968730-163968731	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529703066	chr3:163968756-163968757	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529319352	chr3:163968778-163968779	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182598203	chr3:163968779-163968780	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569277570	chr3:163968810-163968811	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530231774	chr3:163968862-163968863	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186237875	chr3:163968914-163968915	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191554320	chr3:163968946-163968947	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534174795	chr3:163968982-163968983	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184243881	chr3:163969011-163969012	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1321549	chr3:163969081-163969082	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs1575151	chr3:163969095-163969096	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs188599805	chr3:163969148-163969149	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550493049	chr3:163969156-163969157	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547961111	chr3:163969159-163969160	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576103808	chr3:163969186-163969187	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545180996	chr3:163969287-163969288	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571910499	chr3:163969358-163969359	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565035059	chr3:163969361-163969362	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570265067	chr3:163969397-163969398	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192742807	chr3:163969412-163969413	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541306031	chr3:163969461-163969462	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182107407	chr3:163969469-163969470	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561199631	chr3:163969506-163969507	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186571613	chr3:163969508-163969509	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549153307	chr3:163969536-163969537	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191814442	chr3:163969639-163969640	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183951416	chr3:163969703-163969704	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187525660	chr3:163969747-163969748	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs35614057	chr3:163969749-163969750	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73154464	chr3:163969765-163969766	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs34665370	chr3:163969782-163969783	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs116030029	chr3:163969784-163969785	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544057593	chr3:163969829-163969830	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141843706	chr3:163969842-163969843	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538900544	chr3:163969862-163969863	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567647520	chr3:163969864-163969865	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192807804	chr3:163969935-163969936	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555927082	chr3:163969977-163969978	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs67669759	chr3:163970031-163970032	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs398052412	chr3:163970036-163970037	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs115902188	chr3:163970101-163970102	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150631741	chr3:163970145-163970146	Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
small cell lung cancer	20016488	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
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
Glioma	20126413	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:163963200-163995200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:163979000-163996200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr3:163982400-163983200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:163990800-163993200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr3:163994400-163995200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
6	chr3:163995200-164000600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:163996200-163997000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
8	chr3:164000600-164002200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:164002200-164003000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:164003000-164005600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:164005600-164006800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:164006800-164007200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:164007200-164007600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:164007600-164009400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:164009400-164009800	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr3:164009400-164009800	Active TSS	H9 Cell Line	embryonic stem cell
17	chr3:164009400-164009800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr3:164009800-164014200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:164014200-164015400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:164015400-164017000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr3:164017000-164017400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr3:164017400-164019800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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