Variant report

Variant	nsv976633
Chromosome Location	chr12:62161502-62171322
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL11A	chr12:62170792-62171001	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr12:62170840-62170990	HRPEpiC	eye:	n/a	n/a
3	EBF1	chr12:62162794-62163020	GM12878	blood:	n/a	n/a
4	RAD21	chr12:62170716-62171072	H1-hESC	embryonic stem cell:	n/a	n/a
5	TEAD4	chr12:62170661-62170991	H1-hESC	embryonic stem cell:	n/a	n/a
6	ZNF143	chr12:62164204-62164432	H1-hESC	embryonic stem cell:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-USP15-4	chr12:62169704-62170181	NONHSAT029067

Variant related genes	Relation type
RPL21P104	TF binding region

Extended variants
information (count: 351 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:351 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545923692	chr12:62161564-62161565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs193204178	chr12:62161565-62161566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540959863	chr12:62161664-62161665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34761622	chr12:62161670-62161671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560617636	chr12:62161676-62161677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547723823	chr12:62161728-62161729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183454853	chr12:62161729-62161730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529293654	chr12:62161736-62161737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369814435	chr12:62161766-62161767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557190006	chr12:62161782-62161783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549358643	chr12:62161795-62161796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550830718	chr12:62161807-62161808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187238968	chr12:62161836-62161837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs117266070	chr12:62161862-62161863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570665517	chr12:62161899-62161900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192565249	chr12:62161912-62161913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546875177	chr12:62161927-62161928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566606714	chr12:62161947-62161948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553318560	chr12:62161952-62161953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184602055	chr12:62161955-62161956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572768277	chr12:62161995-62161996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560924647	chr12:62162057-62162058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143567392	chr12:62162070-62162071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148040241	chr12:62162082-62162083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141769857	chr12:62162134-62162135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557561641	chr12:62162143-62162144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188267284	chr12:62162148-62162149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540426939	chr12:62162191-62162192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113215366	chr12:62162192-62162193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574216948	chr12:62162235-62162236	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs543066308	chr12:62162257-62162258	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs111870925	chr12:62162259-62162260	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs531727763	chr12:62162309-62162310	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs150591533	chr12:62162354-62162355	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs138172683	chr12:62162370-62162371	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs541462694	chr12:62162396-62162397	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs533159939	chr12:62162420-62162421	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs546442188	chr12:62162451-62162452	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs566778337	chr12:62162455-62162456	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs529175368	chr12:62162460-62162461	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs373248259	chr12:62162462-62162463	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs548847507	chr12:62162463-62162464	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs568555566	chr12:62162464-62162465	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs555397935	chr12:62162476-62162477	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs376522767	chr12:62162498-62162499	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs114788700	chr12:62162500-62162501	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs557839724	chr12:62162515-62162516	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs7980047	chr12:62162551-62162552	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs61942563	chr12:62162563-62162564	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs554045983	chr12:62162568-62162569	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Metanephric adenoma	20802469	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Breast cancer	21364760	CNVD
Man infertility	21397064	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62157600-62172000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:62159000-62162200	Weak transcription	Aorta	Aorta
3	chr12:62162200-62163400	ZNF genes & repeats	Aorta	Aorta
4	chr12:62162400-62162800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:62162600-62163000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:62162800-62163400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:62163400-62173200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:62163400-62175200	Weak transcription	Aorta	Aorta
9	chr12:62169800-62171800	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr12:62170000-62177400	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr12:62170200-62171800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr12:62170800-62171000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr12:62170800-62171200	Enhancers	H1 Cell Line	embryonic stem cell
14	chr12:62170800-62171200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:62170800-62171400	Enhancers	H9 Cell Line	embryonic stem cell
16	chr12:62170800-62172400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr12:62170800-62174400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr12:62170800-62175400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr12:62170800-62176200	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr12:62171000-62175000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr12:62171000-62175400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:62171200-62174000	Weak transcription	H1 Cell Line	embryonic stem cell

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