Variant report

Variant	nsv877888
Chromosome Location	chr3:163961014-164018044
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	chr3:163995585..163997750-chr3:164093655..164096327,2	K562	blood:
3	chr3:163988892..163990964-chr3:163991912..163993953,2	K562	blood:
4	chr3:163968485..163970197-chr3:163971709..163973734,2	MCF-7	breast:
5	chr3:163968485..163970197-chr3:163971709..163973734,2	MCF-7	breast:

Extended variants
information (count: 2138 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:2138 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9818705	chr3:163961014-163961015	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs559523539	chr3:163961052-163961053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188057937	chr3:163961067-163961068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566384691	chr3:163961081-163961082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558370677	chr3:163961113-163961114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191531652	chr3:163961181-163961182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140301217	chr3:163961230-163961231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369808100	chr3:163961232-163961233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554063338	chr3:163961243-163961244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145519080	chr3:163961263-163961264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542246801	chr3:163961269-163961270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562223801	chr3:163961363-163961364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531354565	chr3:163961437-163961438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574160352	chr3:163961472-163961473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545211145	chr3:163961490-163961491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544869501	chr3:163961511-163961512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565050657	chr3:163961520-163961521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114965631	chr3:163961524-163961525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182919792	chr3:163961561-163961562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138142155	chr3:163961635-163961636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563812997	chr3:163961671-163961672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188813880	chr3:163961708-163961709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146219603	chr3:163961740-163961741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370947051	chr3:163961764-163961765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545817246	chr3:163961785-163961786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530863607	chr3:163961830-163961831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35595085	chr3:163961887-163961888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538634911	chr3:163961895-163961896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141928293	chr3:163961982-163961983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558894076	chr3:163961994-163961995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192139471	chr3:163962000-163962001	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571780987	chr3:163962054-163962055	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184929586	chr3:163962124-163962125	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554026556	chr3:163962130-163962131	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574024244	chr3:163962160-163962161	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113075483	chr3:163962187-163962188	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575960274	chr3:163962200-163962201	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545042263	chr3:163962253-163962254	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375574149	chr3:163962385-163962386	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572172450	chr3:163962401-163962402	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565724	chr3:163962407-163962408	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs561162780	chr3:163962445-163962446	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs13096857	chr3:163962485-163962486	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs546852803	chr3:163962507-163962508	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs34097582	chr3:163962535-163962536	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs562823632	chr3:163962671-163962672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567059712	chr3:163962743-163962744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538621224	chr3:163962751-163962752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531628000	chr3:163962764-163962765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551815490	chr3:163962765-163962766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Non-syndromic sensorineural hearing loss	22037309	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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:163959200-163962000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:163962000-163962600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:163962600-163963200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:163963200-163995200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:163979000-163996200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr3:163982400-163983200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr3:163990800-163993200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr3:163994400-163995200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
9	chr3:163995200-164000600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:163996200-163997000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
11	chr3:164000600-164002200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:164002200-164003000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:164003000-164005600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:164005600-164006800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:164006800-164007200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:164007200-164007600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:164007600-164009400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr3:164009400-164009800	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr3:164009400-164009800	Active TSS	H9 Cell Line	embryonic stem cell
20	chr3:164009400-164009800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr3:164009800-164014200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr3:164014200-164015400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:164015400-164017000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr3:164017000-164017400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr3:164017400-164019800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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