Variant report

Variant	esv3458444
Chromosome Location	chr2:142325151-142329147
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:142317711..142321512-chr2:142324977..142327310,3	MCF-7	breast:

Extended variants
information (count: 200 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:200 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10928111	chr2:142325164-142325165	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs546619805	chr2:142325183-142325184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566333883	chr2:142325218-142325219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535323627	chr2:142325233-142325234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73965713	chr2:142325240-142325241	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs150590997	chr2:142325351-142325352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201830488	chr2:142325361-142325362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs199999561	chr2:142325362-142325363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200785756	chr2:142325363-142325364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201921406	chr2:142325364-142325365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568618935	chr2:142325375-142325376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115030171	chr2:142325406-142325407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553586877	chr2:142325412-142325413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570727929	chr2:142325425-142325426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182430506	chr2:142325437-142325438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186603597	chr2:142325515-142325516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552959644	chr2:142325558-142325559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145431533	chr2:142325597-142325598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374308874	chr2:142325612-142325613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149191413	chr2:142325654-142325655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568073453	chr2:142325663-142325664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561866681	chr2:142325712-142325713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535473087	chr2:142325723-142325724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550999495	chr2:142325753-142325754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145085548	chr2:142325797-142325798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12469217	chr2:142325882-142325883	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs564160625	chr2:142325884-142325885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs57933129	chr2:142325886-142325887	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs146851713	chr2:142325888-142325889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376822966	chr2:142325980-142325981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140872737	chr2:142325986-142325987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs80336455	chr2:142325988-142325989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528927085	chr2:142326014-142326015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548850541	chr2:142326024-142326025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568416544	chr2:142326074-142326075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568678317	chr2:142326089-142326090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577131481	chr2:142326100-142326101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550898039	chr2:142326116-142326117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs144700407	chr2:142326180-142326181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539537267	chr2:142326181-142326182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs764820	chr2:142326186-142326187	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs191385052	chr2:142326198-142326199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs56394617	chr2:142326209-142326210	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs183971091	chr2:142326251-142326252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs3036219	chr2:142326257-142326258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369249214	chr2:142326260-142326261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs397835856	chr2:142326261-142326262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575450369	chr2:142326262-142326263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544352087	chr2:142326277-142326278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564260204	chr2:142326281-142326282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	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
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma	21080181	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Autism	22543975	CNVD
Cancer	20164920	CNVD
Hypertension	22686481	CNVD
Hypospadia	22686481	CNVD
Intellectual disability	22686481	CNVD
Omphalocele	22686481	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142315200-142327800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:142320400-142327800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:142323400-142327800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr2:142323800-142328000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr2:142327600-142328200	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr2:142327600-142328400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:142327800-142328000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:142327800-142328200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:142327800-142328400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr2:142327800-142328400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr2:142327800-142328600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr2:142327800-142328600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:142327800-142328600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:142327800-142328600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr2:142327800-142328600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:142328000-142328600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:142328000-142328600	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr2:142328200-142328400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr2:142328200-142329600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:142328200-142330000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr2:142328400-142328600	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr2:142328600-142328800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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