Variant report

Variant	esv3433362
Chromosome Location	chr3:163278158-163281756
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:163272248..163274700-chr3:163276925..163278536,2	K562	blood:
2	chr3:163279842..163282789-chr3:163286166..163287961,2	K562	blood:
3	chr3:163271731..163274404-chr3:163278013..163279806,2	K562	blood:

Extended variants
information (count: 121 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569131180	chr3:163278168-163278169	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs113845701	chr3:163278200-163278201	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs16846970	chr3:163278254-163278255	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs117893034	chr3:163278287-163278288	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs556710803	chr3:163278305-163278306	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs146107405	chr3:163278307-163278308	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs370670112	chr3:163278308-163278309	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs570216509	chr3:163278312-163278313	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs191974071	chr3:163278325-163278326	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs183894880	chr3:163278355-163278356	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs552786416	chr3:163278361-163278362	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs544532305	chr3:163278396-163278397	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs188732369	chr3:163278413-163278414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs114562085	chr3:163278465-163278466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556128811	chr3:163278503-163278504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575973897	chr3:163278548-163278549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs191602837	chr3:163278710-163278711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs112247926	chr3:163278720-163278721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs142589383	chr3:163278786-163278787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540761594	chr3:163278787-163278788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs150978675	chr3:163278817-163278818	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs529314378	chr3:163278876-163278877	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs182180195	chr3:163278895-163278896	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs534827340	chr3:163278918-163278919	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs187293923	chr3:163278970-163278971	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs13071293	chr3:163278972-163278973	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs369120794	chr3:163278979-163278980	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs12487230	chr3:163279015-163279016	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs191654357	chr3:163279030-163279031	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs185246398	chr3:163279045-163279046	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs553063255	chr3:163279109-163279110	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs578114304	chr3:163279119-163279120	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs375195914	chr3:163279131-163279132	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs535446592	chr3:163279146-163279147	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs555371525	chr3:163279151-163279152	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs190065721	chr3:163279205-163279206	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs150145012	chr3:163279210-163279211	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs138899391	chr3:163279235-163279236	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs537176131	chr3:163279241-163279242	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs77731173	chr3:163279279-163279280	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs540447889	chr3:163279285-163279286	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs116651873	chr3:163279380-163279381	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs574023240	chr3:163279400-163279401	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs543011864	chr3:163279501-163279502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs193111435	chr3:163279518-163279519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185856908	chr3:163279542-163279543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189321358	chr3:163279547-163279548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114069708	chr3:163279592-163279593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs141441992	chr3:163279607-163279608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546440529	chr3:163279653-163279654	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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:163277600-163278400	Flanking Active TSS	Hela-S3	cervix
2	chr3:163278200-163279400	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr3:163278200-163279600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr3:163278400-163278600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr3:163278400-163278800	Enhancers	Hela-S3	cervix
6	chr3:163278400-163279400	Enhancers	H1 Cell Line	embryonic stem cell
7	chr3:163278400-163279600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr3:163278600-163279400	Enhancers	H9 Cell Line	embryonic stem cell
9	chr3:163278800-163279200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr3:163278800-163279200	Flanking Active TSS	Hela-S3	cervix
11	chr3:163278800-163279400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr3:163278800-163279400	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr3:163279000-163279400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:163279000-163279400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr3:163279200-163279400	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr3:163279200-163279400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr3:163279200-163279400	Active TSS	Hela-S3	cervix
18	chr3:163279400-163280200	Weak transcription	Hela-S3	cervix
19	chr3:163279400-163280400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr3:163280000-163281000	Enhancers	Liver	Liver
21	chr3:163280200-163281800	Enhancers	Hela-S3	cervix
22	chr3:163280400-163280600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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