Variant report

Variant	esv1837340
Chromosome Location	chr2:126440697-126451399
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:126441721..126443799-chr2:126451980..126453632,2	K562	blood:
2	chr2:126441149..126442866-chr2:126450432..126451944,2	K562	blood:
3	chr2:126441149..126442866-chr2:126450432..126451944,2	K562	blood:

Extended variants
information (count: 106 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2114601	chr2:126440697-126440698	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs140345976	chr2:126440735-126440736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560305134	chr2:126440786-126440787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183235185	chr2:126440813-126440814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1344626	chr2:126440884-126440885	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs571161401	chr2:126440885-126440886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs3980634	chr2:126440984-126440985	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs550401259	chr2:126440987-126440988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532081136	chr2:126440988-126440989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567438464	chr2:126441017-126441018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186804657	chr2:126441028-126441029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs376671994	chr2:126441098-126441099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs192738834	chr2:126441109-126441110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182365072	chr2:126441132-126441133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558585838	chr2:126441142-126441143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs59172904	chr2:126441164-126441165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs78762462	chr2:126441211-126441212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531040809	chr2:126441250-126441251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs71413426	chr2:126441254-126441255	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs561347933	chr2:126441260-126441261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs368071865	chr2:126441261-126441262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs3943891	chr2:126441311-126441312	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs188355666	chr2:126441345-126441346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs78216128	chr2:126441371-126441372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532404545	chr2:126441407-126441408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192583851	chr2:126441436-126441437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150373643	chr2:126441480-126441481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184669194	chr2:126441488-126441489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138105164	chr2:126441492-126441493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567366145	chr2:126441549-126441550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551081989	chr2:126441580-126441581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529857916	chr2:126441582-126441583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189057413	chr2:126441587-126441588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192655059	chr2:126441602-126441603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538729935	chr2:126441604-126441605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs13427105	chr2:126441620-126441621	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs567770266	chr2:126441624-126441625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538557276	chr2:126441629-126441630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555207575	chr2:126441648-126441649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574941401	chr2:126441664-126441665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149026941	chr2:126441678-126441679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs566933776	chr2:126441689-126441690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184945233	chr2:126441710-126441711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576963885	chr2:126441715-126441716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs545877065	chr2:126441733-126441734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs562570615	chr2:126441768-126441769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531564172	chr2:126441774-126441775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs144583503	chr2:126441776-126441777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs2052813	chr2:126441777-126441778	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs13427484	chr2:126441788-126441789	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:56)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:126439400-126440800	Enhancers	Rectal Mucosa Donor 29	rectum
2	chr2:126439400-126441200	Enhancers	Adipose Nuclei	Adipose
3	chr2:126440600-126441400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:126441400-126443000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:126441600-126443200	Enhancers	GM12878-XiMat	blood
6	chr2:126442800-126443200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr2:126443000-126443200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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