Variant report

Variant	esv275096
Chromosome Location	chr3:179831081-179833141
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6806300	chr3:179831081-179831082	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs116111448	chr3:179831192-179831193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538863874	chr3:179831214-179831215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148567193	chr3:179831285-179831286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141930002	chr3:179831322-179831323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150644833	chr3:179831331-179831332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554273254	chr3:179831332-179831333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574247386	chr3:179831338-179831339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372558535	chr3:179831360-179831361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139733011	chr3:179831371-179831372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553488195	chr3:179831372-179831373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545246478	chr3:179831373-179831374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143590942	chr3:179831383-179831384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530913654	chr3:179831389-179831390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146800835	chr3:179831433-179831434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs77257573	chr3:179831482-179831483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371290900	chr3:179831486-179831487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188510485	chr3:179831602-179831603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530142327	chr3:179831606-179831607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs139504111	chr3:179831627-179831628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566817981	chr3:179831655-179831656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs144166375	chr3:179831673-179831674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556406559	chr3:179831682-179831683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs370376126	chr3:179831719-179831720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs7652876	chr3:179831733-179831734	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs145072694	chr3:179831802-179831803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs375920218	chr3:179831819-179831820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs554515736	chr3:179831831-179831832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574338829	chr3:179831839-179831840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541998179	chr3:179831864-179831865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs180970770	chr3:179831883-179831884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs553250069	chr3:179831917-179831918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs183565863	chr3:179831959-179831960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs545148658	chr3:179831981-179831982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs565156902	chr3:179832040-179832041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs78629958	chr3:179832054-179832055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs4376038	chr3:179832076-179832077	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs375064801	chr3:179832144-179832145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530037429	chr3:179832169-179832170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189356733	chr3:179832176-179832177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9884094	chr3:179832221-179832222	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs532453120	chr3:179832223-179832224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552145477	chr3:179832234-179832235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs149092133	chr3:179832336-179832337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182191915	chr3:179832337-179832338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538079389	chr3:179832349-179832350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77630018	chr3:179832351-179832352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372914053	chr3:179832359-179832360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550213472	chr3:179832385-179832386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553352344	chr3:179832394-179832395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
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
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Anaplastic thyroid cancer	17989125	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Ovarian cancer	18208621	CNVD
Thyroid cancer	17317825	CNVD
Thyroid cancer	17989125	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	21806811	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	19653912	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Prostate cancer	18632612	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:179810600-179843600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:179828200-179835000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:179828400-179832000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr3:179828400-179832200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr3:179828400-179832200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr3:179828400-179832200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr3:179828600-179831800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr3:179831600-179832000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr3:179831800-179835400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr3:179832000-179832400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr3:179832000-179832600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr3:179832000-179834200	Enhancers	H1 Cell Line	embryonic stem cell
13	chr3:179832000-179835200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr3:179832200-179832400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr3:179832200-179832400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr3:179832200-179832600	Enhancers	Brain Angular Gyrus	brain
17	chr3:179832200-179832600	Enhancers	Ovary	ovary
18	chr3:179832200-179832800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:179832200-179833000	Enhancers	Brain Anterior Caudate	brain
20	chr3:179832200-179834200	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr3:179832200-179835400	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr3:179832200-179836400	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr3:179832200-179836400	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr3:179832400-179832600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr3:179832400-179832800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr3:179832400-179834400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr3:179832400-179835800	Enhancers	H9 Cell Line	embryonic stem cell
28	chr3:179832600-179834400	Weak transcription	Ovary	ovary
29	chr3:179832600-179835600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr3:179832800-179833200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:179832800-179836000	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr3:179833000-179834000	Weak transcription	Brain Anterior Caudate	brain

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