Variant report

Variant	nsv591205
Chromosome Location	chr3:103641158-103722343
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:9)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:12926733..12929305-chr3:103655550..103657071,2	MCF-7	breast:
2	chr3:103663959..103665790-chr3:103668581..103671355,2	K562	blood:
3	chr3:103672576..103675146-chr3:103946117..103948469,2	K562	blood:
4	chr3:103709966..103710719-chr3:104179327..104180275,3	MCF-7	breast:
5	chr3:103706366..103707164-chr3:187218063..187218925,2	MCF-7	breast:
6	chr18:59467934..59468577-chr3:103711169..103712107,2	MCF-7	breast:
7	chr3:103720043..103721593-chr3:105084716..105086679,2	MCF-7	breast:
8	chr3:103709950..103710945-chr3:103925530..103926295,2	MCF-7	breast:
9	chr3:103663959..103665790-chr3:103668581..103671355,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ALCAM-3	chr3:103646038-103646199	NONHSAT090944
2	lnc-ALCAM-3	chr3:103689452-103689595	NONHSAT090944
3	lnc-ALCAM-3	chr3:103646039-103646199	XLOC_002744

No data

Variant related genes	Relation type
ENSG00000170017	chromatin interactions

Extended variants
information (count: 1059 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:1059 , 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	rs563263055	chr3:103646041-103646042	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs16849464	chr3:103646073-103646074	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs546747970	chr3:103646110-103646111	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs577161683	chr3:103646151-103646152	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs565330155	chr3:103646155-103646156	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs372777354	chr3:103646156-103646157	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs532548097	chr3:103646178-103646179	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs535009890	chr3:103665464-103665465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139686176	chr3:103665494-103665495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs149922269	chr3:103665536-103665537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552986468	chr3:103665557-103665558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs117978697	chr3:103665571-103665572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546435980	chr3:103665572-103665573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557238324	chr3:103665595-103665596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575744391	chr3:103665603-103665604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs184868415	chr3:103665658-103665659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546125893	chr3:103665660-103665661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557823565	chr3:103665688-103665689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556975079	chr3:103665694-103665695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575351145	chr3:103665705-103665706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs138726043	chr3:103665774-103665775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545874471	chr3:103665783-103665784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546717892	chr3:103665813-103665814	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs372263629	chr3:103665851-103665852	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs564172927	chr3:103665869-103665870	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs377040685	chr3:103665882-103665883	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs561638757	chr3:103665899-103665900	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs189673715	chr3:103665903-103665904	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs9288771	chr3:103665933-103665934	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs371574784	chr3:103665939-103665940	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs2141745	chr3:103665985-103665986	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs533149174	chr3:103665992-103665993	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs201750738	chr3:103666000-103666001	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs76903522	chr3:103666008-103666009	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs9288772	chr3:103666009-103666010	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs551856383	chr3:103666030-103666031	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs546702797	chr3:103666062-103666063	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs2398897	chr3:103666096-103666097	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs535457606	chr3:103666110-103666111	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs9846345	chr3:103666118-103666119	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs569488754	chr3:103666179-103666180	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs540007327	chr3:103666203-103666204	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs559462883	chr3:103666271-103666272	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs573406013	chr3:103666319-103666320	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs550897195	chr3:103666334-103666335	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs533837719	chr3:103666375-103666376	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs180900515	chr3:103666394-103666395	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs569707729	chr3:103666409-103666410	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs74539088	chr3:103666417-103666418	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs183759111	chr3:103666419-103666420	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Breast cancer	22522925	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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:103665400-103665800	Enhancers	HepG2	liver
2	chr3:103665800-103666600	Flanking Active TSS	HepG2	liver
3	chr3:103666200-103666600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr3:103672600-103673200	Enhancers	HepG2	liver
5	chr3:103672800-103673200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr3:103673200-103679600	Weak transcription	HepG2	liver
7	chr3:103674600-103675000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr3:103679600-103683600	Enhancers	HepG2	liver
9	chr3:103679800-103680200	Enhancers	Liver	Liver
10	chr3:103681200-103681800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:103681600-103682600	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr3:103682600-103682800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr3:103684600-103684800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr3:103684800-103685000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr3:103685000-103687000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr3:103694200-103697200	Enhancers	Liver	Liver
17	chr3:103694600-103695400	Enhancers	HepG2	liver
18	chr3:103695400-103696200	Active TSS	HepG2	liver
19	chr3:103695800-103696800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:103696200-103696400	Flanking Active TSS	HepG2	liver
21	chr3:103696200-103697000	Enhancers	Fetal Intestine Small	intestine
22	chr3:103696200-103697200	Enhancers	Fetal Intestine Large	intestine
23	chr3:103696400-103698400	Enhancers	HepG2	liver
24	chr3:103704400-103704800	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr3:103704600-103705000	Enhancers	HepG2	liver
26	chr3:103705000-103710000	Weak transcription	HepG2	liver
27	chr3:103707800-103708200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr3:103710200-103710400	Enhancers	HepG2	liver
29	chr3:103710600-103711000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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