Variant report

Variant	nsv877251
Chromosome Location	chr3:103408208-103747624
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:20)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:103424446..103427403-chr3:103429119..103430974,2	MCF-7	breast:
2	chr3:103575079..103576806-chr3:103584240..103586997,2	K562	blood:
3	chr3:103424446..103427403-chr3:103429119..103430974,2	MCF-7	breast:
4	chr3:103663959..103665790-chr3:103668581..103671355,2	K562	blood:
5	chr3:103418196..103420246-chr3:103431375..103433647,2	MCF-7	breast:
6	chr3:103517464..103519066-chr3:103520798..103522354,2	K562	blood:
7	chr3:103663959..103665790-chr3:103668581..103671355,2	K562	blood:
8	chr3:103709966..103710719-chr3:104179327..104180275,3	MCF-7	breast:
9	chr3:103575079..103576806-chr3:103584240..103586997,2	K562	blood:
10	chr3:103720043..103721593-chr3:105084716..105086679,2	MCF-7	breast:
11	chr3:103517464..103519066-chr3:103520798..103522354,2	K562	blood:
12	chr16:12926733..12929305-chr3:103655550..103657071,2	MCF-7	breast:
13	chr3:103672576..103675146-chr3:103946117..103948469,2	K562	blood:
14	chr18:59467934..59468577-chr3:103711169..103712107,2	MCF-7	breast:
15	chr3:103418196..103420246-chr3:103431375..103433647,2	MCF-7	breast:
16	chr12:57117722..57120174-chr3:103567759..103569281,2	MCF-7	breast:
17	chr3:103596754..103597389-chr3:103609289..103610010,2	MCF-7	breast:
18	chr3:103706366..103707164-chr3:187218063..187218925,2	MCF-7	breast:
19	chr3:103596754..103597389-chr3:103609289..103610010,2	MCF-7	breast:
20	chr3:103709950..103710945-chr3:103925530..103926295,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ALCAM-3	chr3:103646039-103646199	XLOC_002744
2	lnc-ALCAM-3	chr3:103689452-103689595	NONHSAT090944
3	lnc-ALCAM-3	chr3:103646038-103646199	NONHSAT090944
4	lnc-ALCAM-3	chr3:103730436-103730568	XLOC_002744

No data

Variant related genes	Relation type
ENSG00000170017	chromatin interactions
ENSG00000196531	chromatin interactions

Extended variants
information (count: 2754 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:2754 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16846615	chr3:103408208-103408209	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs150630889	chr3:103408257-103408258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575365062	chr3:103408258-103408259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138796580	chr3:103408262-103408263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192069875	chr3:103408303-103408304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565353386	chr3:103408335-103408336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149416266	chr3:103408345-103408346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541387276	chr3:103408351-103408352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560074345	chr3:103408352-103408353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182671871	chr3:103408389-103408390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs116729417	chr3:103408411-103408412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186941373	chr3:103408419-103408420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563982131	chr3:103408439-103408440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530532814	chr3:103408446-103408447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573496929	chr3:103408449-103408450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552217461	chr3:103408518-103408519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112321785	chr3:103408531-103408532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534796701	chr3:103408554-103408555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552888184	chr3:103408558-103408559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147503798	chr3:103408571-103408572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535316290	chr3:103408575-103408576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554549954	chr3:103408576-103408577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191401697	chr3:103408592-103408593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543574023	chr3:103408630-103408631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111681568	chr3:103408661-103408662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575696788	chr3:103408675-103408676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577398087	chr3:103408694-103408695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116434337	chr3:103408710-103408711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs72962113	chr3:103408734-103408735	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs370588238	chr3:103408751-103408752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112743690	chr3:103408784-103408785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542501392	chr3:103408809-103408810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147357465	chr3:103408877-103408878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs57622747	chr3:103408941-103408942	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs371018894	chr3:103408955-103408956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570513578	chr3:103408990-103408991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148389739	chr3:103408998-103408999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142566845	chr3:103409010-103409011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs79505088	chr3:103409020-103409021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs535376293	chr3:103409031-103409032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs150967715	chr3:103409085-103409086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569977948	chr3:103409105-103409106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184442013	chr3:103409106-103409107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs140766508	chr3:103409140-103409141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs370154503	chr3:103409166-103409167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs577266724	chr3:103409180-103409181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs77731921	chr3:103409240-103409241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs114356246	chr3:103409399-103409400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs570054857	chr3:103409457-103409458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs189330956	chr3:103409465-103409466	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Chordoma	21215367	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:103393800-103409000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:103409000-103410200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:103412600-103413200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr3:103412600-103413200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr3:103423200-103424800	Enhancers	Fetal Heart	heart
6	chr3:103425400-103426200	Enhancers	NHEK	skin
7	chr3:103425400-103426400	Enhancers	HMEC	breast
8	chr3:103425600-103426200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr3:103425600-103426200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr3:103426200-103430800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr3:103426200-103430800	Weak transcription	NHEK	skin
12	chr3:103426200-103431000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr3:103426400-103431000	Weak transcription	HMEC	breast
14	chr3:103427600-103427800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:103430800-103431200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr3:103430800-103431800	Enhancers	HUVEC	blood vessel
17	chr3:103430800-103431800	Enhancers	NHEK	skin
18	chr3:103431000-103431400	Enhancers	HMEC	breast
19	chr3:103431000-103431800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr3:103496600-103497000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr3:103504400-103506800	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr3:103505000-103505200	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr3:103505000-103505400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr3:103505000-103505400	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr3:103505000-103506800	Enhancers	Fetal Heart	heart
26	chr3:103505200-103505400	Flanking Bivalent TSS/Enh	Pancreatic Islets	Pancreatic Islet
27	chr3:103505200-103505600	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr3:103505200-103505600	Enhancers	Fetal Kidney	kidney
29	chr3:103505200-103505600	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr3:103505600-103506000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr3:103506000-103506800	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr3:103506400-103506600	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr3:103513200-103514200	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr3:103513400-103513800	Enhancers	H1 Cell Line	embryonic stem cell
35	chr3:103513400-103513800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr3:103513400-103514000	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr3:103513400-103514000	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr3:103513400-103514000	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr3:103513400-103514000	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr3:103513400-103514200	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr3:103513800-103514200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr3:103527200-103527600	ZNF genes & repeats	Lung	lung
43	chr3:103529400-103532400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr3:103532200-103532600	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr3:103532200-103533000	Enhancers	H9 Cell Line	embryonic stem cell
46	chr3:103532200-103533000	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr3:103532200-103533200	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr3:103532200-103533200	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr3:103532400-103532800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr3:103532400-103533400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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