Variant report

Variant	nsv999377
Chromosome Location	chr3:163587339-163639942
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:8)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:163611385..163613477-chr3:163617466..163620081,2	K562	blood:
2	chr3:163611385..163613477-chr3:163617466..163620081,2	K562	blood:
3	chr3:163639118..163640834-chr3:163641183..163642713,2	MCF-7	breast:
4	chr3:163639924..163641654-chr3:163663861..163665823,2	MCF-7	breast:
5	chr3:163634067..163635345-chr3:163668973..163669822,4	MCF-7	breast:
6	chr3:163503157..163504078-chr3:163634240..163634926,2	MCF-7	breast:
7	chr20:46012245..46013152-chr3:163614507..163615347,2	MCF-7	breast:
8	chr3:163580902..163583898-chr3:163589100..163591236,2	K562	blood:

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

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

No data

Extended variants
information (count: 1093 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1093 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371010744	chr3:163587407-163587408	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs536327458	chr3:163587411-163587412	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs201187704	chr3:163587417-163587418	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs73876495	chr3:163587418-163587419	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs200271198	chr3:163587421-163587422	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs201569291	chr3:163587422-163587423	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs13074334	chr3:163587423-163587424	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs13074169	chr3:163587458-163587459	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs556461019	chr3:163587493-163587494	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs576438827	chr3:163587537-163587538	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs78409325	chr3:163587538-163587539	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs552468573	chr3:163587578-163587579	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs548650067	chr3:163587602-163587603	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs190255254	chr3:163587603-163587604	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs150249558	chr3:163587604-163587605	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs191972492	chr3:163587607-163587608	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs573270283	chr3:163589486-163589487	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs114466895	chr3:163589524-163589525	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs548555602	chr3:163589563-163589564	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs553368076	chr3:163589582-163589583	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs573147265	chr3:163589625-163589626	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs183146783	chr3:163589627-163589628	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs541364034	chr3:163589637-163589638	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs182714500	chr3:163595401-163595402	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs6548301	chr3:163595427-163595428	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs566314348	chr3:163595428-163595429	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs186584621	chr3:163595430-163595431	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs554707543	chr3:163595481-163595482	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs190262374	chr3:163595484-163595485	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs537122831	chr3:163595488-163595489	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs557357863	chr3:163595522-163595523	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs577156267	chr3:163595585-163595586	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs375217034	chr3:163595587-163595588	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs539775470	chr3:163595606-163595607	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs558587544	chr3:163595613-163595614	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs561444598	chr3:163595619-163595620	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs114987332	chr3:163595645-163595646	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs541251784	chr3:163595649-163595650	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs144627052	chr3:163595680-163595681	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs535625241	chr3:163595707-163595708	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs571751521	chr3:163595718-163595719	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs182389499	chr3:163595728-163595729	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs543144359	chr3:163595768-163595769	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs370250786	chr3:163595784-163595785	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs369236935	chr3:163595811-163595812	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs372610967	chr3:163595813-163595814	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs540892553	chr3:163595891-163595892	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs187372803	chr3:163595895-163595896	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs10513603	chr3:163595897-163595898	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs559636210	chr3:163595898-163595899	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:163587200-163587400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:163595400-163596600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:163599200-163599800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:163599800-163600200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr3:163600000-163600600	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr3:163606600-163608400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:163606800-163607200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr3:163607200-163608200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr3:163608200-163608800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr3:163608200-163609000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr3:163608200-163609600	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr3:163608200-163610000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr3:163608400-163609000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:163608400-163609000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr3:163608400-163609600	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr3:163608600-163609000	Enhancers	H1 Cell Line	embryonic stem cell
17	chr3:163608800-163609000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:163610000-163611600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr3:163611600-163611800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr3:163615400-163615800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr3:163622000-163622200	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr3:163622200-163623400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr3:163623400-163624600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr3:163623600-163624200	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr3:163623800-163624400	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr3:163623800-163624600	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr3:163624200-163625200	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr3:163624400-163625800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr3:163624600-163625200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr3:163625200-163625400	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr3:163625200-163628400	Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr3:163625800-163626600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
33	chr3:163626200-163627000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
34	chr3:163626600-163627600	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr3:163627000-163631800	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr3:163627600-163631800	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr3:163627800-163631800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr3:163628200-163628400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
39	chr3:163628400-163629800	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
40	chr3:163628400-163631800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr3:163629400-163629600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr3:163629600-163630200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr3:163629800-163631000	Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr3:163630200-163630800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr3:163630400-163630800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr3:163630600-163630800	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr3:163630800-163631800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr3:163630800-163631800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr3:163631000-163631800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr3:163631800-163632000	Enhancers	HUES48 Cell Line	embryonic stem cell

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