Variant report

Variant	esv3409859
Chromosome Location	chr3:163504299-163551429
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:163541049..163542770-chr3:163547839..163549740,2	K562	blood:
2	chr3:163541049..163542770-chr3:163547839..163549740,2	K562	blood:
3	chr3:163539597..163540281-chr6:10405070..10405779,2	Hela-S3	cervix:

Extended variants
information (count: 640 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:640 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76699556	chr3:163504330-163504331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549760906	chr3:163504357-163504358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562937547	chr3:163504378-163504379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532716512	chr3:163504398-163504399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs367676781	chr3:163504399-163504400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369557472	chr3:163504448-163504449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552429069	chr3:163504495-163504496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs186814949	chr3:163504578-163504579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535233337	chr3:163504592-163504593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549136057	chr3:163504642-163504643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548464324	chr3:163504643-163504644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568541855	chr3:163504690-163504691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs75479938	chr3:163504718-163504719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs116314046	chr3:163504750-163504751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs139133337	chr3:163504771-163504772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538969904	chr3:163504785-163504786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558908098	chr3:163504812-163504813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143647037	chr3:163504825-163504826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs76848557	chr3:163504887-163504888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191241351	chr3:163504910-163504911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs115532765	chr3:163504946-163504947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543107777	chr3:163504967-163504968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74828193	chr3:163505408-163505409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs9819510	chr3:163505434-163505435	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs559120837	chr3:163505468-163505469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183998651	chr3:163505481-163505482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs553354853	chr3:163505522-163505523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs80239520	chr3:163505580-163505581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs534602098	chr3:163505591-163505592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs145348947	chr3:163505597-163505598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs144255664	chr3:163505600-163505601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs543150187	chr3:163505609-163505610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs113931017	chr3:163505625-163505626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576504056	chr3:163505652-163505653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs545399677	chr3:163505668-163505669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376790731	chr3:163505694-163505695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568778237	chr3:163505745-163505746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs142300479	chr3:163505774-163505775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs6790136	chr3:163505789-163505790	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs186902124	chr3:163505801-163505802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562335953	chr3:163505816-163505817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192160736	chr3:163505836-163505837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79083102	chr3:163505855-163505856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570959367	chr3:163505861-163505862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548121606	chr3:163505862-163505863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528944208	chr3:163505880-163505881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533423628	chr3:163505881-163505882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375580589	chr3:163505889-163505890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566747105	chr3:163505930-163505931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534943793	chr3:163505940-163505941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:163504000-163505000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:163504400-163504800	Enhancers	Dnd41	blood
3	chr3:163505400-163505800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:163505600-163505800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:163505600-163505800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr3:163505800-163507800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr3:163505800-163508000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr3:163516200-163517400	Enhancers	Colon Smooth Muscle	Colon
9	chr3:163516400-163517000	Enhancers	Rectal Smooth Muscle	rectum
10	chr3:163516600-163517000	Enhancers	Fetal Stomach	stomach
11	chr3:163523600-163527400	Weak transcription	Aorta	Aorta
12	chr3:163527000-163527400	Enhancers	Dnd41	blood
13	chr3:163527200-163527600	Enhancers	Fetal Intestine Large	intestine
14	chr3:163527200-163527600	Enhancers	Fetal Intestine Small	intestine
15	chr3:163527200-163527800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr3:163527400-163527800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr3:163527400-163527800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr3:163527400-163527800	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr3:163527400-163527800	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr3:163527400-163527800	Enhancers	Aorta	Aorta
21	chr3:163527400-163527800	Flanking Active TSS	Dnd41	blood
22	chr3:163527400-163527800	Active TSS	GM12878-XiMat	blood
23	chr3:163527400-163527800	Active TSS	Hela-S3	cervix
24	chr3:163527600-163528000	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr3:163527800-163528000	Enhancers	Dnd41	blood
26	chr3:163534400-163535200	Enhancers	Liver	Liver
27	chr3:163539400-163540000	Enhancers	Fetal Heart	heart
28	chr3:163542800-163543200	Active TSS	Hela-S3	cervix
29	chr3:163543200-163546600	Weak transcription	Hela-S3	cervix
30	chr3:163546600-163547000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr3:163546600-163548000	Active TSS	Hela-S3	cervix
32	chr3:163546800-163547600	Enhancers	H1 Cell Line	embryonic stem cell
33	chr3:163547200-163547400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr3:163548000-163550000	Weak transcription	Hela-S3	cervix
35	chr3:163550000-163550200	Enhancers	Hela-S3	cervix

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