Variant report

Variant	nsv584321
Chromosome Location	chr2:212446818-212511895
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	chr2:212443336..212445425-chr2:212453184..212455748,2	MCF-7	breast:

Extended variants
information (count: 2467 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:2467 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12619171	chr2:212446818-212446819	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs535171897	chr2:212446843-212446844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551665317	chr2:212446844-212446845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35508098	chr2:212446855-212446856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186602736	chr2:212446884-212446885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540950035	chr2:212446885-212446886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530725603	chr2:212446923-212446924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556911446	chr2:212446995-212446996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574115315	chr2:212447000-212447001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369743617	chr2:212447019-212447020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553181887	chr2:212447080-212447081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572956812	chr2:212447137-212447138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545183975	chr2:212447144-212447145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191053833	chr2:212447154-212447155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557098752	chr2:212447156-212447157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371246736	chr2:212447167-212447168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148677651	chr2:212447172-212447173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544259721	chr2:212447243-212447244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34503644	chr2:212447442-212447443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs6732573	chr2:212447529-212447530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144535985	chr2:212447662-212447663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187532401	chr2:212447716-212447717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12694244	chr2:212447718-212447719	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs560150175	chr2:212447729-212447730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572922132	chr2:212447777-212447778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs79225913	chr2:212447793-212447794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375363335	chr2:212447889-212447890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571632698	chr2:212447898-212447899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs74572427	chr2:212447912-212447913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369353052	chr2:212447913-212447914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567552089	chr2:212447924-212447925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139695897	chr2:212448006-212448007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553203199	chr2:212448089-212448090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191028362	chr2:212448100-212448101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538859989	chr2:212448136-212448137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558763244	chr2:212448137-212448138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183209169	chr2:212448149-212448150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144719456	chr2:212448206-212448207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375598104	chr2:212448225-212448226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559828656	chr2:212448229-212448230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs36050244	chr2:212448242-212448243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs199981113	chr2:212448244-212448245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554801659	chr2:212448260-212448261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545348144	chr2:212448314-212448315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7585825	chr2:212448342-212448343	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs6435641	chr2:212448347-212448348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556154354	chr2:212448365-212448366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187525938	chr2:212448368-212448369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532581569	chr2:212448372-212448373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565131986	chr2:212448375-212448376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	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
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Renal cell carcinoma	18765545	CNVD
Ovarian cancer	19193619	CNVD
Non-small cell lung cancer	18676828	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Schizophrenia	20838587	CNVD
Breast cancer	17661082	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	18990708	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212419400-212451800	Weak transcription	Aorta	Aorta
2	chr2:212435400-212450000	Weak transcription	Fetal Heart	heart
3	chr2:212444400-212451200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:212451200-212456200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:212451800-212452400	Strong transcription	Aorta	Aorta
6	chr2:212452400-212466800	Weak transcription	Aorta	Aorta
7	chr2:212455200-212456400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:212456000-212457600	Enhancers	Fetal Heart	heart
9	chr2:212456200-212456600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:212456200-212456600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:212456200-212456600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:212456600-212456800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:212456600-212457000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:212456600-212473600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:212456800-212458000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:212457000-212457200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:212457200-212458000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:212457600-212458000	Weak transcription	Fetal Heart	heart
19	chr2:212458000-212458200	Enhancers	Fetal Heart	heart
20	chr2:212458000-212458800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:212458000-212458800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:212458200-212463000	Weak transcription	Fetal Heart	heart
23	chr2:212458800-212462800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:212459600-212462600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:212462600-212465800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:212462800-212463200	Enhancers	H9 Cell Line	embryonic stem cell
27	chr2:212462800-212463200	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr2:212462800-212464000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:212462800-212464200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr2:212462800-212465800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:212463000-212463200	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr2:212463000-212463200	Enhancers	Fetal Heart	heart
33	chr2:212463000-212464400	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr2:212463200-212463600	Weak transcription	Fetal Heart	heart
35	chr2:212463200-212464000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:212463600-212464000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:212463600-212465400	Enhancers	Fetal Heart	heart
38	chr2:212463800-212464000	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr2:212463800-212465000	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr2:212464000-212464800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:212464000-212465000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr2:212464800-212465200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr2:212465000-212465200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:212465400-212469000	Weak transcription	Fetal Heart	heart
45	chr2:212465800-212466800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:212466800-212467200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:212466800-212467200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr2:212466800-212467400	ZNF genes & repeats	Aorta	Aorta
49	chr2:212467200-212480000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr2:212467400-212546800	Weak transcription	Aorta	Aorta

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