Variant report

Variant	nsv877871
Chromosome Location	chr3:163917341-163984820
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:163919977..163922257-chr3:163923536..163925910,2	MCF-7	breast:
2	chr3:163916797..163919508-chr3:163924219..163927520,3	MCF-7	breast:
3	chr3:163968485..163970197-chr3:163971709..163973734,2	MCF-7	breast:
4	chr10:36759743..36761957-chr3:163916939..163919179,2	K562	blood:
5	chr3:163916797..163919508-chr3:163924219..163927520,3	MCF-7	breast:
6	chr3:163919977..163922257-chr3:163923536..163925910,2	MCF-7	breast:
7	chr3:163968485..163970197-chr3:163971709..163973734,2	MCF-7	breast:

Extended variants
information (count: 2601 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:2601 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7637480	chr3:163917341-163917342	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs367846238	chr3:163917347-163917348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370480388	chr3:163917353-163917354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558544685	chr3:163917354-163917355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374916904	chr3:163917358-163917359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368313781	chr3:163917362-163917363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148453144	chr3:163917366-163917367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2753112	chr3:163917367-163917368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77862672	chr3:163917368-163917369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79533936	chr3:163917384-163917385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11453630	chr3:163917386-163917387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182241807	chr3:163917423-163917424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573201142	chr3:163917426-163917427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540737934	chr3:163917444-163917445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138872185	chr3:163917451-163917452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574338480	chr3:163917469-163917470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543683373	chr3:163917535-163917536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563472345	chr3:163917536-163917537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532249942	chr3:163917547-163917548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187338781	chr3:163917553-163917554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551459988	chr3:163917600-163917601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573438382	chr3:163917635-163917636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527774278	chr3:163917660-163917661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547955912	chr3:163917700-163917701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567835441	chr3:163917736-163917737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536881923	chr3:163917796-163917797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550363989	chr3:163917825-163917826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11714036	chr3:163917827-163917828	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs188457673	chr3:163917835-163917836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs180675906	chr3:163917906-163917907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185745588	chr3:163917928-163917929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369404759	chr3:163917945-163917946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564894648	chr3:163917969-163917970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559073789	chr3:163917991-163917992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190116172	chr3:163917992-163917993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554272186	chr3:163918021-163918022	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574279841	chr3:163918073-163918074	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543221054	chr3:163918074-163918075	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557143850	chr3:163918194-163918195	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577019961	chr3:163918238-163918239	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546118264	chr3:163918239-163918240	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546602776	chr3:163918241-163918242	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565272961	chr3:163918242-163918243	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527711299	chr3:163918247-163918248	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs386470406	chr3:163918277-163918278	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571991080	chr3:163918284-163918285	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575508	chr3:163918292-163918293	Strong transcription Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs530232604	chr3:163918300-163918301	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144579206	chr3:163918302-163918303	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183117685	chr3:163918345-163918346	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Breast cancer	21364760	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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:163912800-163918400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr3:163917200-163918000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:163918000-163918600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:163918200-163918600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr3:163918400-163918600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr3:163918600-163919400	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:163919400-163925600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:163925600-163926000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr3:163925600-163926600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:163925800-163927800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr3:163926200-163927400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr3:163926400-163926800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr3:163926600-163927400	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr3:163926600-163927600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr3:163926600-163927600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr3:163926600-163927800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:163926800-163927200	Enhancers	Fetal Brain Male	brain
18	chr3:163926800-163927800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr3:163927800-163929200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:163929200-163931000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr3:163931000-163931400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr3:163931400-163932000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:163932000-163932600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr3:163932600-163933200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr3:163933200-163934600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr3:163934600-163948600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr3:163938600-163940400	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr3:163939200-163940000	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr3:163939200-163940400	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr3:163939200-163940400	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr3:163939600-163940800	Enhancers	Dnd41	blood
32	chr3:163940000-163940400	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr3:163940000-163940400	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr3:163940000-163940400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr3:163946800-163947200	Active TSS	Primary hematopoietic stem cells	blood
36	chr3:163948400-163948800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr3:163948600-163948800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr3:163948800-163953000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr3:163948800-163953000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr3:163952400-163953600	Enhancers	Fetal Kidney	kidney
41	chr3:163953000-163953600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr3:163953000-163959200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr3:163953600-163954800	Weak transcription	Fetal Kidney	kidney
44	chr3:163954800-163955600	Enhancers	Fetal Kidney	kidney
45	chr3:163959200-163962000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr3:163962000-163962600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr3:163962600-163963200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr3:163963200-163995200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr3:163979000-163996200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr3:163982400-163983200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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