Variant report

Variant	nsv877270
Chromosome Location	chr3:103684644-103750905
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:5)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:103720043..103721593-chr3:105084716..105086679,2	MCF-7	breast:
2	chr18:59467934..59468577-chr3:103711169..103712107,2	MCF-7	breast:
3	chr3:103709966..103710719-chr3:104179327..104180275,3	MCF-7	breast:
4	chr3:103709950..103710945-chr3:103925530..103926295,2	MCF-7	breast:
5	chr3:103706366..103707164-chr3:187218063..187218925,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ALCAM-3	chr3:103730436-103730568	XLOC_002744
2	lnc-ALCAM-3	chr3:103689452-103689595	NONHSAT090944

No data

Variant related genes	Relation type
ENSG00000170017	chromatin interactions

Extended variants
information (count: 701 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:701 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11928308	chr3:103684644-103684645	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs79203640	chr3:103684663-103684664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540458921	chr3:103684664-103684665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76072614	chr3:103684678-103684679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187305361	chr3:103684679-103684680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs55653955	chr3:103684694-103684695	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs192829096	chr3:103684710-103684711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530001966	chr3:103684754-103684755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs79292800	chr3:103684778-103684779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563301199	chr3:103684781-103684782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563371018	chr3:103684784-103684785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552446163	chr3:103684792-103684793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184982750	chr3:103684853-103684854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189394106	chr3:103684864-103684865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs56089245	chr3:103684883-103684884	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs547136064	chr3:103684904-103684905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568581012	chr3:103685007-103685008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535503536	chr3:103685024-103685025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148043372	chr3:103685037-103685038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568868017	chr3:103685042-103685043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552693007	chr3:103685044-103685045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574504944	chr3:103685081-103685082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs180952338	chr3:103685082-103685083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs9853755	chr3:103685086-103685087	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs368728499	chr3:103685096-103685097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573060838	chr3:103685195-103685196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs386664103	chr3:103685210-103685211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9853651	chr3:103685212-103685213	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs115453033	chr3:103685221-103685222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs28781906	chr3:103685222-103685223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563485360	chr3:103685277-103685278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575209350	chr3:103685312-103685313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545826380	chr3:103685336-103685337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112987447	chr3:103685349-103685350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528752840	chr3:103685356-103685357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189643137	chr3:103685378-103685379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181861343	chr3:103685379-103685380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs116336930	chr3:103685380-103685381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550674829	chr3:103685387-103685388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186229748	chr3:103685434-103685435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191940405	chr3:103685480-103685481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551331669	chr3:103685482-103685483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566349856	chr3:103685486-103685487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536191016	chr3:103685492-103685493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534053936	chr3:103685595-103685596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75672303	chr3:103685598-103685599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573496170	chr3:103685607-103685608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537674644	chr3:103685616-103685617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564959764	chr3:103685622-103685623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181478327	chr3:103685639-103685640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
Developmental delay	22180640	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:103684600-103684800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:103684800-103685000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:103685000-103687000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:103694200-103697200	Enhancers	Liver	Liver
5	chr3:103694600-103695400	Enhancers	HepG2	liver
6	chr3:103695400-103696200	Active TSS	HepG2	liver
7	chr3:103695800-103696800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:103696200-103696400	Flanking Active TSS	HepG2	liver
9	chr3:103696200-103697000	Enhancers	Fetal Intestine Small	intestine
10	chr3:103696200-103697200	Enhancers	Fetal Intestine Large	intestine
11	chr3:103696400-103698400	Enhancers	HepG2	liver
12	chr3:103704400-103704800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr3:103704600-103705000	Enhancers	HepG2	liver
14	chr3:103705000-103710000	Weak transcription	HepG2	liver
15	chr3:103707800-103708200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:103710200-103710400	Enhancers	HepG2	liver
17	chr3:103710600-103711000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr3:103724000-103724400	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr3:103737000-103737600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr3:103749200-103750400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr3:103749600-103749800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr3:103749600-103751200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr3:103749800-103751400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr3:103750000-103750200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr3:103750400-103750800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr3:103750400-103750800	Enhancers	Placenta Amnion	Placenta Amnion
27	chr3:103750400-103751000	Enhancers	H9 Cell Line	embryonic stem cell
28	chr3:103750400-103751600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr3:103750600-103751000	Enhancers	H1 Cell Line	embryonic stem cell
30	chr3:103750600-103751200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr3:103750600-103751400	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr3:103750600-103751400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr3:103750600-103751400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr3:103750600-103752400	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr3:103750800-103751200	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr3:103750800-103751600	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr3:103750800-103751800	Enhancers	HUES48 Cell Line	embryonic stem cell

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