Variant report

Variant	nsv877821
Chromosome Location	chr3:163567068-163616880
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:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:163580902..163583898-chr3:163589100..163591236,2	K562	blood:
2	chr20:46012245..46013152-chr3:163614507..163615347,2	MCF-7	breast:
3	chr3:163580902..163583898-chr3:163589100..163591236,2	K562	blood:
4	chr3:163611385..163613477-chr3:163617466..163620081,2	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: 411 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:411 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13059483	chr3:163567068-163567069	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs375844083	chr3:163567098-163567099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542281430	chr3:163567101-163567102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184879458	chr3:163567132-163567133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547620420	chr3:163567161-163567162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs151131016	chr3:163567177-163567178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs527274661	chr3:163567190-163567191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569163288	chr3:163567213-163567214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs375997440	chr3:163567238-163567239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs13060209	chr3:163567299-163567300	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs114683228	chr3:163567309-163567310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530362084	chr3:163567324-163567325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs202168268	chr3:163567326-163567327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550409708	chr3:163567334-163567335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548170337	chr3:163567339-163567340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs186827320	chr3:163567342-163567343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532660777	chr3:163567375-163567376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs147357574	chr3:163567390-163567391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs368858734	chr3:163567393-163567394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191314819	chr3:163567398-163567399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566101071	chr3:163567403-163567404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs201587383	chr3:163567404-163567405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs184946684	chr3:163567425-163567426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs4855282	chr3:163567426-163567427	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs567232478	chr3:163567517-163567518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs536095425	chr3:163567543-163567544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs2886408	chr3:163567546-163567547	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs4855283	chr3:163567552-163567553	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs147597865	chr3:163567567-163567568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561701113	chr3:163577620-163577621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs538032263	chr3:163577701-163577702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530644956	chr3:163577756-163577757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs543956091	chr3:163577801-163577802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs562609781	chr3:163577803-163577804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs115955997	chr3:163577816-163577817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs145018590	chr3:163577840-163577841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182499460	chr3:163577908-163577909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566834023	chr3:163577964-163577965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187416120	chr3:163577990-163577991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs115371674	chr3:163577997-163577998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs147130235	chr3:163578032-163578033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555777496	chr3:163578059-163578060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs139465847	chr3:163578128-163578129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538374503	chr3:163578188-163578189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs149684523	chr3:163578219-163578220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs201204954	chr3:163578231-163578232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs66941146	chr3:163578232-163578233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs4479603	chr3:163578233-163578234	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs4519707	chr3:163578242-163578243	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs533157838	chr3:163578246-163578247	Enhancers	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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:163566400-163567400	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr3:163566800-163567200	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr3:163567000-163567600	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr3:163567000-163567600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr3:163577600-163578800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr3:163582000-163582200	Enhancers	Pancreas	Pancrea
7	chr3:163587200-163587400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:163595400-163596600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:163599200-163599800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:163599800-163600200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr3:163600000-163600600	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr3:163606600-163608400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:163606800-163607200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr3:163607200-163608200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr3:163608200-163608800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr3:163608200-163609000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr3:163608200-163609600	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr3:163608200-163610000	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr3:163608400-163609000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:163608400-163609000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr3:163608400-163609600	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr3:163608600-163609000	Enhancers	H1 Cell Line	embryonic stem cell
23	chr3:163608800-163609000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr3:163610000-163611600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr3:163611600-163611800	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr3:163615400-163615800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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