Variant report

Variant	nsv999246
Chromosome Location	chr3:162447248-162625983
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:21)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:87583726..87584390-chr3:162551047..162551567,2	MCF-7	breast:
2	chr3:162554556..162557102-chr3:162558855..162561328,2	K562	blood:
3	chr3:162622047..162623612-chr3:162639605..162642211,2	K562	blood:
4	chr16:87583669..87584291-chr3:162551047..162551567,2	MCF-7	breast:
5	chr3:162548004..162549875-chr3:162551679..162554489,2	MCF-7	breast:
6	chr3:162475543..162478495-chr3:162480272..162482533,2	MCF-7	breast:
7	chr3:162468849..162471720-chr3:162897232..162899564,2	K562	blood:
8	chr3:162471864..162474454-chr3:162482441..162485010,2	MCF-7	breast:
9	chr3:162449508..162452375-chr3:162459605..162462257,2	MCF-7	breast:
10	chr3:162494680..162495563-chr3:162760633..162761552,3	MCF-7	breast:
11	chr15:52605031..52607219-chr3:162453213..162454978,2	MCF-7	breast:
12	chr3:162475543..162478495-chr3:162480272..162482533,2	MCF-7	breast:
13	chr3:162486396..162487274-chr3:162497260..162497768,2	MCF-7	breast:
14	chr3:162471864..162474454-chr3:162482441..162485010,2	MCF-7	breast:
15	chr3:162548004..162549875-chr3:162551679..162554489,2	MCF-7	breast:
16	chr3:162524861..162526931-chr3:162547103..162549053,2	MCF-7	breast:
17	chr3:162449508..162452375-chr3:162459605..162462257,2	MCF-7	breast:
18	chr3:162554556..162557102-chr3:162558855..162561328,2	K562	blood:
19	chr3:162118223..162119105-chr3:162517137..162517997,2	MCF-7	breast:
20	chr3:162486396..162487274-chr3:162497260..162497768,2	MCF-7	breast:
21	chr3:162524861..162526931-chr3:162547103..162549053,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OTOL1-8	chr3:162455438-162455542	NONHSAT093025

No data

Extended variants
information (count: 3137 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:3137 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562211840	chr3:162447252-162447253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs531017892	chr3:162447275-162447276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs369807556	chr3:162447305-162447306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140935297	chr3:162447356-162447357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532329123	chr3:162447413-162447414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552415961	chr3:162447424-162447425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555824819	chr3:162447457-162447458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188244226	chr3:162447469-162447470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs6441546	chr3:162447559-162447560	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs547778001	chr3:162447612-162447613	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs375487544	chr3:162447657-162447658	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs149773355	chr3:162447658-162447659	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs557275965	chr3:162447659-162447660	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs7648613	chr3:162447684-162447685	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs539758510	chr3:162447698-162447699	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs145740529	chr3:162447710-162447711	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs373987458	chr3:162447737-162447738	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs573455582	chr3:162447773-162447774	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs193175011	chr3:162447791-162447792	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs9883543	chr3:162447818-162447819	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs575811714	chr3:162447819-162447820	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544691796	chr3:162447872-162447873	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563356817	chr3:162447875-162447876	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532981516	chr3:162447893-162447894	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs9867696	chr3:162447914-162447915	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs552062901	chr3:162447918-162447919	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183781630	chr3:162447930-162447931	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375963978	chr3:162447933-162447934	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146899844	chr3:162447937-162447938	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115581550	chr3:162447980-162447981	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567672176	chr3:162447988-162447989	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530542107	chr3:162448095-162448096	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550615151	chr3:162448096-162448097	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138420478	chr3:162448121-162448122	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570436976	chr3:162448179-162448180	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114188893	chr3:162448180-162448181	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs13082772	chr3:162448188-162448189	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs13082795	chr3:162448239-162448240	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs148959511	chr3:162448240-162448241	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs567181661	chr3:162448296-162448297	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs189190831	chr3:162448318-162448319	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs369413377	chr3:162448319-162448320	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs575677848	chr3:162448324-162448325	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs544266946	chr3:162448420-162448421	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs562653777	chr3:162448426-162448427	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs558261794	chr3:162448433-162448434	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs578030099	chr3:162448455-162448456	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs192276789	chr3:162448494-162448495	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs559240172	chr3:162448529-162448530	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs528371218	chr3:162448535-162448536	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Bladder cancer	21909424	CNVD
Chordoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:202 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162439800-162459200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr3:162444200-162448000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr3:162444200-162453800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr3:162445400-162448000	Weak transcription	Dnd41	blood
5	chr3:162445800-162448000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:162446400-162453200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr3:162446600-162447600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr3:162447000-162447600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr3:162447000-162448200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr3:162447200-162447800	Enhancers	Osteobl	bone
11	chr3:162447200-162448000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:162447600-162447800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
13	chr3:162447600-162448200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr3:162447800-162449200	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr3:162448000-162448800	Enhancers	Dnd41	blood
16	chr3:162448000-162450400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:162448200-162448600	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr3:162448600-162448800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr3:162448800-162449600	Weak transcription	Dnd41	blood
20	chr3:162448800-162450600	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr3:162449200-162452000	Genic enhancers	HUES6 Cell Line	embryonic stem cell
22	chr3:162449400-162450200	Enhancers	Fetal Intestine Large	intestine
23	chr3:162449600-162451400	Enhancers	Dnd41	blood
24	chr3:162450600-162451400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr3:162450600-162451600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr3:162451400-162451600	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr3:162451400-162453800	Weak transcription	Dnd41	blood
28	chr3:162451600-162451800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr3:162451800-162452000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr3:162452000-162453800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr3:162452000-162454000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr3:162453200-162453400	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr3:162453400-162453800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr3:162453800-162454200	Genic enhancers	HUES6 Cell Line	embryonic stem cell
35	chr3:162453800-162454400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:162453800-162454400	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr3:162453800-162454400	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr3:162453800-162454400	Enhancers	Dnd41	blood
39	chr3:162453800-162454600	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr3:162453800-162457000	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr3:162454000-162454200	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr3:162454000-162455000	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr3:162454200-162454400	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr3:162454200-162458000	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr3:162454400-162456000	Weak transcription	Dnd41	blood
46	chr3:162454400-162456200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr3:162454400-162456600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr3:162454400-162458000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr3:162454600-162458000	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr3:162455000-162458200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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