Variant report

Variant	esv3391329
Chromosome Location	chr3:163266299-163278371
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:163266767..163268587-chr3:163269344..163271343,2	K562	blood:
2	chr3:163266767..163268587-chr3:163269344..163271343,2	K562	blood:
3	chr3:163267923..163271361-chr3:163273489..163277862,5	K562	blood:
4	chr3:163271731..163274404-chr3:163278013..163279806,2	K562	blood:
5	chr3:163272248..163274700-chr3:163276925..163278536,2	K562	blood:
6	chr3:163261473..163265718-chr3:163265860..163268345,3	K562	blood:
7	chr3:163267923..163270791-chr3:163274503..163276060,2	K562	blood:
8	chr3:163271731..163274404-chr3:163278013..163279806,2	K562	blood:
9	chr3:163216146..163219163-chr3:163270336..163273057,3	K562	blood:
10	chr3:163267923..163271361-chr3:163273489..163277862,5	K562	blood:
11	chr3:163272392..163273925-chr3:163274947..163276664,2	K562	blood:
12	chr3:163267923..163270791-chr3:163274503..163276060,2	K562	blood:
13	chr3:163272392..163273925-chr3:163274947..163276664,2	K562	blood:
14	chr3:163272248..163274700-chr3:163276925..163278536,2	K562	blood:

No data

Extended variants
information (count: 510 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:510 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533659577	chr3:163266305-163266306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs35095247	chr3:163266339-163266340	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs567040077	chr3:163266357-163266358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529418572	chr3:163266401-163266402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183633024	chr3:163266435-163266436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35903038	chr3:163266445-163266446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569333230	chr3:163266448-163266449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537883484	chr3:163266530-163266531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375214352	chr3:163266556-163266557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551737848	chr3:163266590-163266591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147722512	chr3:163266624-163266625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186590726	chr3:163266659-163266660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79152729	chr3:163266661-163266662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572660724	chr3:163266738-163266739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139720197	chr3:163266743-163266744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142630689	chr3:163266765-163266766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555217151	chr3:163266806-163266807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575276403	chr3:163266809-163266810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557969857	chr3:163266816-163266817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138369880	chr3:163266874-163266875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148833438	chr3:163266891-163266892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561699095	chr3:163266923-163266924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562174185	chr3:163266957-163266958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs114825173	chr3:163267032-163267033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532605604	chr3:163267059-163267060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560760175	chr3:163267062-163267063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73161804	chr3:163267105-163267106	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs549578461	chr3:163267145-163267146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75256549	chr3:163267149-163267150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531798518	chr3:163267164-163267165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551507070	chr3:163267169-163267170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541918028	chr3:163267186-163267187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10936353	chr3:163267267-163267268	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs539358374	chr3:163267273-163267274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs114763856	chr3:163267329-163267330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566426870	chr3:163267344-163267345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374652409	chr3:163267385-163267386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10804805	chr3:163267394-163267395	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs370306605	chr3:163267410-163267411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555520060	chr3:163267411-163267412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540174894	chr3:163267417-163267418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575257240	chr3:163267447-163267448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs143454133	chr3:163267471-163267472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190947925	chr3:163267521-163267522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147995230	chr3:163267649-163267650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs76415920	chr3:163267658-163267659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540233616	chr3:163267666-163267667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372977841	chr3:163267693-163267694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569950955	chr3:163267694-163267695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145996489	chr3:163267698-163267699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:163266200-163271400	Weak transcription	Hela-S3	cervix
2	chr3:163269200-163271600	Weak transcription	Right Atrium	heart
3	chr3:163270400-163271200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr3:163270600-163271000	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr3:163270600-163271200	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr3:163270600-163271200	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr3:163270600-163272000	Active TSS	K562	blood
8	chr3:163271400-163272200	Enhancers	Hela-S3	cervix
9	chr3:163272200-163274200	Weak transcription	Hela-S3	cervix
10	chr3:163274200-163275000	Enhancers	Hela-S3	cervix
11	chr3:163275000-163275400	Flanking Active TSS	Hela-S3	cervix
12	chr3:163275400-163275600	Enhancers	Hela-S3	cervix
13	chr3:163275600-163277400	Weak transcription	Hela-S3	cervix
14	chr3:163277400-163277600	Active TSS	Hela-S3	cervix
15	chr3:163277600-163278400	Flanking Active TSS	Hela-S3	cervix
16	chr3:163278200-163279400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr3:163278200-163279600	Enhancers	HUES48 Cell Line	embryonic stem cell

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