Variant report

Variant	nsv963963
Chromosome Location	chr2:126211293-126248142
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:126210559..126213448-chr2:126214193..126215952,2	MCF-7	breast:
2	chr2:125567512..125568092-chr2:126229510..126230293,2	MCF-7	breast:
3	chr2:126210559..126213448-chr2:126214193..126215952,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CNTNAP5-9	chr2:126239624-126239889	NONHSAT074116

Extended variants
information (count: 376 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:376 , 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	rs150150675	chr2:126212203-126212204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs534318999	chr2:126212270-126212271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs374446450	chr2:126212282-126212283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373450709	chr2:126212339-126212340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs13389438	chr2:126212344-126212345	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs551052826	chr2:126212401-126212402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs11897289	chr2:126212403-126212404	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs372496658	chr2:126212409-126212410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545285196	chr2:126212447-126212448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565037767	chr2:126212452-126212453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191106917	chr2:126212469-126212470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538333035	chr2:126212486-126212487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs145619649	chr2:126212509-126212510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182567209	chr2:126212522-126212523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536408698	chr2:126212524-126212525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148903389	chr2:126212538-126212539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs529724755	chr2:126212539-126212540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186982940	chr2:126212547-126212548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs560089661	chr2:126212552-126212553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532012398	chr2:126212606-126212607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs10171503	chr2:126212613-126212614	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs569583787	chr2:126212634-126212635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538416106	chr2:126212665-126212666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs78205388	chr2:126212808-126212809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568707459	chr2:126212856-126212857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535840434	chr2:126212873-126212874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs534281381	chr2:126212894-126212895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs554021515	chr2:126212938-126212939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs10171912	chr2:126213027-126213028	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs538563574	chr2:126213029-126213030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs539459896	chr2:126213034-126213035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558782160	chr2:126213035-126213036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575173764	chr2:126213052-126213053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs12470142	chr2:126213065-126213066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574206054	chr2:126213109-126213110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs544133877	chr2:126213112-126213113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs192298464	chr2:126213118-126213119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560738599	chr2:126213128-126213129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs574338185	chr2:126213156-126213157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs34709031	chr2:126213169-126213170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs200816869	chr2:126213176-126213177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541692666	chr2:126213180-126213181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs371074806	chr2:126213248-126213249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs575155107	chr2:126213258-126213259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs12466744	chr2:126213265-126213266	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs532094291	chr2:126213297-126213298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551905499	chr2:126213320-126213321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs554638587	chr2:126213340-126213341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562498202	chr2:126213361-126213362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs532029815	chr2:126213368-126213369	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Mental retardation	17621639	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Medulloblastoma	16968546	CNVD
Neurocytoma	17123091	CNVD
Developmental delay	21147756	CNVD
Bladder cancer	21909424	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:126212200-126215200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr2:126212400-126213200	Enhancers	GM12878-XiMat	blood
3	chr2:126212600-126213200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:126213800-126214000	Enhancers	Fetal Brain Male	brain
5	chr2:126214000-126215000	Weak transcription	Fetal Brain Male	brain
6	chr2:126215000-126215600	Enhancers	Fetal Brain Male	brain
7	chr2:126224400-126224800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:126224800-126227400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:126227400-126227600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:126229400-126229800	Enhancers	A549	lung
11	chr2:126229600-126229800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:126234000-126234600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:126236400-126237400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:126236600-126237200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
15	chr2:126236600-126237200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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