Variant report

Variant	nsv829780
Chromosome Location	chr3:163526388-163678908
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:28)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:163634067..163635345-chr3:163668973..163669822,4	MCF-7	breast:
2	chr3:163664276..163666199-chr3:163667456..163669439,2	MCF-7	breast:
3	chr3:163664276..163666199-chr3:163667456..163669439,2	MCF-7	breast:
4	chr3:163580902..163583898-chr3:163589100..163591236,2	K562	blood:
5	chr3:163669046..163669790-chr3:164903266..164903861,2	MCF-7	breast:
6	chr3:163676571..163679360-chr3:163699055..163700602,2	MCF-7	breast:
7	chr3:163539597..163540281-chr6:10405070..10405779,2	Hela-S3	cervix:
8	chr3:163580902..163583898-chr3:163589100..163591236,2	K562	blood:
9	chr3:163660440..163662829-chr3:163666000..163668542,2	K562	blood:
10	chr3:163660440..163662829-chr3:163666000..163668542,2	K562	blood:
11	chr3:163634067..163635345-chr3:163668973..163669822,4	MCF-7	breast:
12	chr3:163541049..163542770-chr3:163547839..163549740,2	K562	blood:
13	chr3:163503157..163504078-chr3:163634240..163634926,2	MCF-7	breast:
14	chr3:163639118..163640834-chr3:163641183..163642713,2	MCF-7	breast:
15	chr3:163639924..163641654-chr3:163663861..163665823,2	MCF-7	breast:
16	chr3:163639924..163641654-chr3:163663861..163665823,2	MCF-7	breast:
17	chr3:163674728..163675758-chr3:164903457..164904093,3	MCF-7	breast:
18	chr3:163611385..163613477-chr3:163617466..163620081,2	K562	blood:
19	chr1:219388883..219389633-chr3:163652052..163652630,2	MCF-7	breast:
20	chr3:163541049..163542770-chr3:163547839..163549740,2	K562	blood:
21	chr3:163647521..163649115-chr3:163652164..163654381,2	MCF-7	breast:
22	chr3:163219408..163221189-chr3:163663438..163665910,2	K562	blood:
23	chr3:163611385..163613477-chr3:163617466..163620081,2	K562	blood:
24	chr3:163674674..163675466-chr3:164524045..164524647,3	MCF-7	breast:
25	chr3:163647521..163649115-chr3:163652164..163654381,2	MCF-7	breast:
26	chr20:46012245..46013152-chr3:163614507..163615347,2	MCF-7	breast:
27	chr3:163497409..163497997-chr3:163668939..163669921,2	MCF-7	breast:
28	chr3:163639118..163640834-chr3:163641183..163642713,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OTOL1-11	chr3:163589437-163589637	NONHSAT093044
2	lnc-OTOL1-11	chr3:163587101-163587643	NONHSAT093044

No data

Extended variants
information (count: 2378 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:2378 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567008759	chr3:163526405-163526406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs9855066	chr3:163526435-163526436	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs188814554	chr3:163526437-163526438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369619587	chr3:163526438-163526439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181186493	chr3:163526469-163526470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557794471	chr3:163526474-163526475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187164834	chr3:163526509-163526510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs115480143	chr3:163526535-163526536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376519138	chr3:163526567-163526568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573045055	chr3:163526584-163526585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542055949	chr3:163526602-163526603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs6791628	chr3:163526618-163526619	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs530667625	chr3:163526626-163526627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114366964	chr3:163526639-163526640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564144189	chr3:163526658-163526659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532964066	chr3:163526667-163526668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546607329	chr3:163526708-163526709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539321652	chr3:163526710-163526711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115458448	chr3:163526717-163526718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555956548	chr3:163526723-163526724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191549654	chr3:163526734-163526735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114459937	chr3:163526738-163526739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567871183	chr3:163526743-163526744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538019306	chr3:163526744-163526745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535193395	chr3:163526784-163526785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557833069	chr3:163526807-163526808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184095204	chr3:163526832-163526833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542945975	chr3:163526934-163526935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146755717	chr3:163526967-163526968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140448548	chr3:163527008-163527009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs145570889	chr3:163527028-163527029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs541744237	chr3:163527069-163527070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555603583	chr3:163527119-163527120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs575372747	chr3:163527146-163527147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs578238102	chr3:163527154-163527155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs13096751	chr3:163527155-163527156	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs564183226	chr3:163527174-163527175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533054570	chr3:163527258-163527259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187001499	chr3:163527303-163527304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114715923	chr3:163527305-163527306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555876442	chr3:163527347-163527348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189808966	chr3:163527352-163527353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs9880376	chr3:163527425-163527426	Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs531796293	chr3:163527426-163527427	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs551550000	chr3:163527471-163527472	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs79784498	chr3:163527480-163527481	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs148287594	chr3:163527506-163527507	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs554174158	chr3:163527533-163527534	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs567569988	chr3:163527534-163527535	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs140458574	chr3:163527536-163527537	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
low-grade B-cell lymphoma tumor	18367492	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:163523600-163527400	Weak transcription	Aorta	Aorta
2	chr3:163527000-163527400	Enhancers	Dnd41	blood
3	chr3:163527200-163527600	Enhancers	Fetal Intestine Large	intestine
4	chr3:163527200-163527600	Enhancers	Fetal Intestine Small	intestine
5	chr3:163527200-163527800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr3:163527400-163527800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr3:163527400-163527800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr3:163527400-163527800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr3:163527400-163527800	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr3:163527400-163527800	Enhancers	Aorta	Aorta
11	chr3:163527400-163527800	Flanking Active TSS	Dnd41	blood
12	chr3:163527400-163527800	Active TSS	GM12878-XiMat	blood
13	chr3:163527400-163527800	Active TSS	Hela-S3	cervix
14	chr3:163527600-163528000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr3:163527800-163528000	Enhancers	Dnd41	blood
16	chr3:163534400-163535200	Enhancers	Liver	Liver
17	chr3:163539400-163540000	Enhancers	Fetal Heart	heart
18	chr3:163542800-163543200	Active TSS	Hela-S3	cervix
19	chr3:163543200-163546600	Weak transcription	Hela-S3	cervix
20	chr3:163546600-163547000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr3:163546600-163548000	Active TSS	Hela-S3	cervix
22	chr3:163546800-163547600	Enhancers	H1 Cell Line	embryonic stem cell
23	chr3:163547200-163547400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr3:163548000-163550000	Weak transcription	Hela-S3	cervix
25	chr3:163550000-163550200	Enhancers	Hela-S3	cervix
26	chr3:163556600-163557000	Enhancers	H9 Cell Line	embryonic stem cell
27	chr3:163556600-163557000	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr3:163556600-163557200	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr3:163557000-163557400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr3:163557800-163558000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:163559000-163559200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr3:163566000-163566200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr3:163566400-163567400	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr3:163566800-163567200	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr3:163567000-163567600	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr3:163567000-163567600	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr3:163577600-163578800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr3:163582000-163582200	Enhancers	Pancreas	Pancrea
39	chr3:163587200-163587400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr3:163595400-163596600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr3:163599200-163599800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr3:163599800-163600200	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr3:163600000-163600600	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr3:163606600-163608400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr3:163606800-163607200	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr3:163607200-163608200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr3:163608200-163608800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr3:163608200-163609000	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr3:163608200-163609600	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr3:163608200-163610000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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