Variant report

Variant	nsv877259
Chromosome Location	chr3:103513436-103678133
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:11)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:103663959..103665790-chr3:103668581..103671355,2	K562	blood:
2	chr3:103596754..103597389-chr3:103609289..103610010,2	MCF-7	breast:
3	chr3:103663959..103665790-chr3:103668581..103671355,2	K562	blood:
4	chr12:57117722..57120174-chr3:103567759..103569281,2	MCF-7	breast:
5	chr3:103672576..103675146-chr3:103946117..103948469,2	K562	blood:
6	chr3:103575079..103576806-chr3:103584240..103586997,2	K562	blood:
7	chr3:103575079..103576806-chr3:103584240..103586997,2	K562	blood:
8	chr3:103596754..103597389-chr3:103609289..103610010,2	MCF-7	breast:
9	chr3:103517464..103519066-chr3:103520798..103522354,2	K562	blood:
10	chr16:12926733..12929305-chr3:103655550..103657071,2	MCF-7	breast:
11	chr3:103517464..103519066-chr3:103520798..103522354,2	K562	blood:

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

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

No data

Variant related genes	Relation type
ENSG00000196531	chromatin interactions

Extended variants
information (count: 1403 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1403 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1673866	chr3:103513436-103513437	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
2	rs563932613	chr3:103513437-103513438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572979534	chr3:103513500-103513501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541497046	chr3:103513503-103513504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186150522	chr3:103513532-103513533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559605873	chr3:103513543-103513544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs530076061	chr3:103513571-103513572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191004251	chr3:103513581-103513582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142920480	chr3:103513584-103513585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563931334	chr3:103513593-103513594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs6765433	chr3:103513599-103513600	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs369405961	chr3:103513608-103513609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552952410	chr3:103513656-103513657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs554773202	chr3:103513762-103513763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528714902	chr3:103513779-103513780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571305255	chr3:103513780-103513781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183487128	chr3:103513940-103513941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs552281921	chr3:103513955-103513956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568087267	chr3:103513956-103513957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141548379	chr3:103513985-103513986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs78565082	chr3:103514002-103514003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs371713768	chr3:103514058-103514059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556550694	chr3:103514069-103514070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs568555671	chr3:103514070-103514071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs539323758	chr3:103514075-103514076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557663206	chr3:103514078-103514079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs74497082	chr3:103514147-103514148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs78839921	chr3:103527205-103527206	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs77402461	chr3:103527264-103527265	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs558750018	chr3:103527281-103527282	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs577403529	chr3:103527290-103527291	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs535151612	chr3:103527361-103527362	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs139414978	chr3:103527414-103527415	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs574928481	chr3:103527454-103527455	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs542118476	chr3:103527455-103527456	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs557635836	chr3:103527471-103527472	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs575719358	chr3:103527484-103527485	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs564085314	chr3:103527488-103527489	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs572984850	chr3:103527544-103527545	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs11914840	chr3:103527546-103527547	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs187128902	chr3:103527573-103527574	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs528150462	chr3:103527599-103527600	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs576722037	chr3:103529408-103529409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138443439	chr3:103529456-103529457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs377655224	chr3:103529499-103529500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112464849	chr3:103529508-103529509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551005586	chr3:103529543-103529544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562861577	chr3:103529566-103529567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533286660	chr3:103529589-103529590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184402785	chr3:103529637-103529638	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
Breast cancer	22522925	CNVD
Developmental delay	22180640	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:103513200-103514200	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr3:103513400-103513800	Enhancers	H1 Cell Line	embryonic stem cell
3	chr3:103513400-103513800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:103513400-103514000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr3:103513400-103514000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr3:103513400-103514000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr3:103513400-103514000	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr3:103513400-103514200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr3:103513800-103514200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr3:103527200-103527600	ZNF genes & repeats	Lung	lung
11	chr3:103529400-103532400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr3:103532200-103532600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr3:103532200-103533000	Enhancers	H9 Cell Line	embryonic stem cell
14	chr3:103532200-103533000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr3:103532200-103533200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr3:103532200-103533200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr3:103532400-103532800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr3:103532400-103533400	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr3:103532600-103533000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr3:103532800-103538000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr3:103533000-103533200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr3:103533000-103537000	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr3:103533200-103537000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr3:103533200-103537200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr3:103533200-103537200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr3:103533400-103537400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr3:103537000-103537800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr3:103537000-103538600	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr3:103537000-103538600	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr3:103537200-103537600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr3:103537200-103538600	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr3:103537200-103538800	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr3:103537200-103538800	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr3:103537400-103538800	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr3:103537600-103538000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr3:103537600-103538400	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr3:103537600-103538400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr3:103537600-103538800	Enhancers	H1 Cell Line	embryonic stem cell
39	chr3:103537800-103538000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr3:103537800-103538200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr3:103537800-103538200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr3:103537800-103538200	Enhancers	Brain Germinal Matrix	brain
43	chr3:103538000-103538400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr3:103538000-103538400	Enhancers	Fetal Brain Female	brain
45	chr3:103538200-103539200	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr3:103538400-103538800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr3:103538800-103542800	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr3:103539600-103540000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr3:103542800-103543400	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr3:103556200-103556600	Enhancers	HUES64 Cell Line	embryonic stem cell

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