Variant report

Variant	nsv877589
Chromosome Location	chr3:144962452-145066106
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:145061451..145063891-chr3:145082446..145084868,2	K562	blood:
2	chr3:144956656..144959403-chr3:144961256..144963279,2	K562	blood:
3	chr3:145006504..145009118-chr3:145011068..145013301,2	MCF-7	breast:
4	chr3:145021934..145024791-chr3:145028136..145030465,2	K562	blood:
5	chr3:145047302..145049061-chr3:145051775..145054184,2	K562	blood:
6	chr3:145011656..145013483-chr3:145013706..145015700,2	MCF-7	breast:
7	chr3:144968846..144970924-chr3:144975225..144978166,2	MCF-7	breast:
8	chr3:144983651..144984522-chr3:145123095..145123660,2	MCF-7	breast:
9	chr3:144983996..144984506-chr3:145485486..145486139,2	MCF-7	breast:
10	chr3:145006504..145009118-chr3:145011068..145013301,2	MCF-7	breast:
11	chr3:144984029..144984834-chr3:145416240..145416755,2	MCF-7	breast:
12	chr3:145047302..145049061-chr3:145051775..145054184,2	K562	blood:
13	chr3:145011656..145013483-chr3:145013706..145015700,2	MCF-7	breast:
14	chr3:144984069..144984806-chr3:145485343..145486312,4	MCF-7	breast:
15	chr3:145021934..145024791-chr3:145028136..145030465,2	K562	blood:
16	chr3:144968846..144970924-chr3:144975225..144978166,2	MCF-7	breast:
17	chr3:145063874..145066771-chr3:145068629..145070450,2	K562	blood:

No data

Extended variants
information (count: 1451 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:1451 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4681216	chr3:144962452-144962453	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs138478202	chr3:144962497-144962498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113046237	chr3:144962545-144962546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376434543	chr3:144962584-144962585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs9826769	chr3:144962597-144962598	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs372417132	chr3:144962621-144962622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs9846716	chr3:144962684-144962685	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs576428364	chr3:144962700-144962701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574977063	chr3:144962703-144962704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543538751	chr3:144962708-144962709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542350506	chr3:144962710-144962711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs207463816	chr3:144962747-144962748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs149603820	chr3:144962750-144962751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs188151437	chr3:144962759-144962760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560847179	chr3:144962787-144962788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs75502496	chr3:144962789-144962790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs180939084	chr3:144962806-144962807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs144411738	chr3:144962815-144962816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs113767133	chr3:144962863-144962864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs564170190	chr3:144962889-144962890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531676710	chr3:144962901-144962902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544465212	chr3:144962910-144962911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs373142815	chr3:144962911-144962912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs373168841	chr3:144962948-144962949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs561731812	chr3:144962959-144962960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567482166	chr3:144962974-144962975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs547338758	chr3:144962982-144962983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs184004269	chr3:144965824-144965825	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs543886732	chr3:144965851-144965852	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs35113253	chr3:144965858-144965859	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs556150868	chr3:144965900-144965901	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs574433240	chr3:144965932-144965933	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs148422964	chr3:144965959-144965960	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs561465131	chr3:144965963-144965964	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs188266110	chr3:144965976-144965977	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs540888085	chr3:144966017-144966018	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs533096091	chr3:144966023-144966024	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs201823304	chr3:144966071-144966072	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs142633861	chr3:144966083-144966084	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs376344052	chr3:144966090-144966091	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs371227945	chr3:144966142-144966143	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs538667870	chr3:144966161-144966162	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs150565909	chr3:144966197-144966198	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs207463817	chr3:144966203-144966204	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs562430274	chr3:144966227-144966228	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs370644825	chr3:144966229-144966230	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs192293814	chr3:144966247-144966248	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs548277197	chr3:144966306-144966307	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs376235080	chr3:144966317-144966318	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs6773798	chr3:144966325-144966326	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	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
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Autism	21956041	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Schizophrenia	20967226	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:144961000-144962600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr3:144961600-144963000	Enhancers	HMEC	breast
3	chr3:144962000-144962800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr3:144962000-144962800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr3:144962200-144962800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr3:144965800-144970200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:144970200-144976200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:144976200-144976400	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr3:144976200-144977400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:144976200-144977600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr3:144976400-144976600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr3:144976400-144976800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr3:144976400-144976800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr3:144976400-144977400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:144976400-144977400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr3:144976400-144977600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr3:144976400-144977600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr3:144976600-144977000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr3:144976600-144977400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr3:144976600-144977400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr3:144976600-144977400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr3:144976600-144977600	Enhancers	H1 Cell Line	embryonic stem cell
23	chr3:144976800-144977400	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr3:144977000-144977600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr3:144977600-144978800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr3:144990400-144990600	Enhancers	HSMM	muscle
27	chr3:145005000-145005200	Enhancers	GM12878-XiMat	blood
28	chr3:145021400-145021600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr3:145027200-145027600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr3:145031800-145032200	Enhancers	Fetal Kidney	kidney
31	chr3:145033000-145033800	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr3:145033200-145033600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:145033200-145034800	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr3:145033400-145033800	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr3:145033400-145034400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr3:145038800-145039200	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr3:145050400-145050800	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr3:145050600-145051000	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr3:145050600-145051000	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr3:145051000-145052000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr3:145052000-145054800	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr3:145054800-145070200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr3:145059600-145066000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr3:145066000-145066200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr3:145066000-145066200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr3:145066000-145066200	ZNF genes & repeats	Pancreas	Pancrea

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