Variant report

Variant	nsv1010493
Chromosome Location	chr3:23124392-23155165
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:23126490..23128594-chr3:23135045..23137926,2	MCF-7	breast:
2	chr3:23151746..23153503-chr3:23153998..23156456,2	MCF-7	breast:
3	chr3:23138261..23141338-chr3:23143225..23146692,3	MCF-7	breast:
4	chr3:23126490..23128594-chr3:23135045..23137926,2	MCF-7	breast:
5	chr3:23116087..23118442-chr3:23134310..23136828,2	MCF-7	breast:
6	chr3:23146246..23149153-chr3:23154916..23156444,2	MCF-7	breast:
7	chr3:23137402..23139607-chr3:23140156..23142703,3	MCF-7	breast:
8	chr3:23151746..23153503-chr3:23153998..23156456,2	MCF-7	breast:
9	chr3:23154251..23156736-chr3:23157951..23160343,2	K562	blood:
10	chr3:23138261..23141338-chr3:23143225..23146692,3	MCF-7	breast:
11	chr3:23146246..23149153-chr3:23154916..23156444,2	MCF-7	breast:
12	chr3:23137402..23139607-chr3:23140156..23142703,3	MCF-7	breast:
13	chr3:23117260..23119971-chr3:23124072..23125615,2	K562	blood:
14	chr3:22531582..22534400-chr3:23151408..23153228,2	K562	blood:

No data

Extended variants
information (count: 1040 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:1040 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9682247	chr3:23124392-23124393	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs374365086	chr3:23124405-23124406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs75884881	chr3:23124417-23124418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566039457	chr3:23124420-23124421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536587391	chr3:23124444-23124445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376110195	chr3:23124449-23124450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570258656	chr3:23124475-23124476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs724400	chr3:23124488-23124489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371223105	chr3:23124495-23124496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558635443	chr3:23124540-23124541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1905811	chr3:23124568-23124569	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs541031159	chr3:23124628-23124629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557569312	chr3:23124630-23124631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371351784	chr3:23124633-23124634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9848741	chr3:23124691-23124692	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs183930203	chr3:23124696-23124697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144700261	chr3:23124729-23124730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1905812	chr3:23124742-23124743	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs114162771	chr3:23124748-23124749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545649166	chr3:23124808-23124809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553643018	chr3:23124821-23124822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9868749	chr3:23124830-23124831	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs547474648	chr3:23124863-23124864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371171802	chr3:23124889-23124890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111516710	chr3:23124895-23124896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148551790	chr3:23125002-23125003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs74784076	chr3:23125014-23125015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188316717	chr3:23125083-23125084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192518623	chr3:23125139-23125140	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558839167	chr3:23125153-23125154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114355431	chr3:23125163-23125164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6770871	chr3:23125168-23125169	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs184861622	chr3:23125221-23125222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6770966	chr3:23125256-23125257	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs535431158	chr3:23125261-23125262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576071710	chr3:23125271-23125272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557241759	chr3:23125273-23125274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535883279	chr3:23125290-23125291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575399423	chr3:23125314-23125315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112081146	chr3:23125318-23125319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs367561354	chr3:23125324-23125325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189704561	chr3:23125326-23125327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564165371	chr3:23125328-23125329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181859393	chr3:23125329-23125330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545108268	chr3:23125337-23125338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572697032	chr3:23125373-23125374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541154995	chr3:23125374-23125375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141091753	chr3:23125395-23125396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530050765	chr3:23125423-23125424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548260705	chr3:23125425-23125426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23121600-23125000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:23121800-23127200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr3:23122000-23126200	Weak transcription	Fetal Lung	lung
4	chr3:23122000-23126400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr3:23122200-23126400	Weak transcription	Hela-S3	cervix
6	chr3:23122200-23126600	Weak transcription	A549	lung
7	chr3:23125000-23125600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr3:23126200-23128200	Enhancers	Fetal Lung	lung
9	chr3:23126400-23127400	Enhancers	Hela-S3	cervix
10	chr3:23126400-23128400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr3:23126600-23127200	Enhancers	A549	lung
12	chr3:23127000-23127400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr3:23127000-23128600	Enhancers	HSMMtube	muscle
14	chr3:23127200-23127400	Enhancers	Fetal Kidney	kidney
15	chr3:23127200-23128000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:23127200-23128000	Enhancers	NHLF	lung
17	chr3:23127400-23127600	Weak transcription	Hela-S3	cervix
18	chr3:23127400-23128000	Enhancers	Brain Anterior Caudate	brain
19	chr3:23127600-23128000	Enhancers	Hela-S3	cervix
20	chr3:23127800-23128600	Enhancers	Fetal Stomach	stomach
21	chr3:23128000-23128600	Enhancers	Pancreas	Pancrea
22	chr3:23128200-23128400	Enhancers	Fetal Kidney	kidney
23	chr3:23128200-23128800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr3:23133800-23134400	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr3:23134400-23135800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
26	chr3:23135800-23137200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr3:23136200-23137200	Enhancers	A549	lung
28	chr3:23136400-23137600	Enhancers	HUVEC	blood vessel
29	chr3:23136600-23136800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr3:23136600-23137600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr3:23136600-23137800	Enhancers	H9 Cell Line	embryonic stem cell
32	chr3:23136600-23137800	Enhancers	Hela-S3	cervix
33	chr3:23136600-23138000	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr3:23136600-23138000	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr3:23137000-23138000	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr3:23137200-23137400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr3:23137200-23137800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr3:23137200-23137800	Flanking Active TSS	A549	lung
39	chr3:23137200-23138000	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr3:23137200-23138000	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr3:23137200-23138000	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr3:23137200-23138000	Enhancers	HSMMtube	muscle
43	chr3:23137400-23137600	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr3:23137400-23137600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr3:23137400-23137800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr3:23137400-23137800	Enhancers	H1 Cell Line	embryonic stem cell
47	chr3:23137400-23137800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr3:23137400-23137800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr3:23137400-23138000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr3:23137400-23138400	Enhancers	Placenta	Placenta

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