Variant report

Variant	nsv875803
Chromosome Location	chr2:212874828-212969560
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:212891576..212893248-chr2:212907537..212909277,2	K562	blood:
2	chr2:212891576..212893248-chr2:212907537..212909277,2	K562	blood:
3	chr2:212932110..212934697-chr2:212936693..212938362,2	MCF-7	breast:
4	chr2:212932110..212934697-chr2:212936693..212938362,2	MCF-7	breast:
5	chr2:212891168..212892898-chr5:170814131..170816510,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000181163	chromatin interactions

Extended variants
information (count: 2571 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:2571 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12464843	chr2:212874828-212874829	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs181599302	chr2:212874836-212874837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12477159	chr2:212874848-212874849	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs186115436	chr2:212874863-212874864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141384363	chr2:212874865-212874866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529017280	chr2:212874888-212874889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575012913	chr2:212874912-212874913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540810314	chr2:212874960-212874961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549060556	chr2:212874980-212874981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145409855	chr2:212875012-212875013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560592593	chr2:212875025-212875026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375284711	chr2:212875051-212875052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190919064	chr2:212875067-212875068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs180690244	chr2:212875086-212875087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562854848	chr2:212875097-212875098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548112284	chr2:212875104-212875105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145169195	chr2:212875107-212875108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185949621	chr2:212875108-212875109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs77812699	chr2:212875148-212875149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376015080	chr2:212875158-212875159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534726370	chr2:212875216-212875217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191200753	chr2:212875253-212875254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114466204	chr2:212875287-212875288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182937616	chr2:212875323-212875324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570224938	chr2:212875335-212875336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10169217	chr2:212875346-212875347	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs555887997	chr2:212875349-212875350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371494675	chr2:212875351-212875352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188378496	chr2:212875360-212875361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535091455	chr2:212875365-212875366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538921359	chr2:212875398-212875399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190528065	chr2:212875402-212875403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183091646	chr2:212875453-212875454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557234718	chr2:212875461-212875462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533811083	chr2:212875488-212875489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577420536	chr2:212875491-212875492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546368122	chr2:212875500-212875501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7595560	chr2:212875540-212875541	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs531764895	chr2:212875591-212875592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7556690	chr2:212875601-212875602	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs115144800	chr2:212875625-212875626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527545219	chr2:212875654-212875655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547196104	chr2:212875655-212875656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570263662	chr2:212875695-212875696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532955758	chr2:212875697-212875698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370453570	chr2:212875712-212875713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7559224	chr2:212875715-212875716	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs569630246	chr2:212875747-212875748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536036437	chr2:212877202-212877203	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs555471255	chr2:212877216-212877217	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Acute lymphoblastic leukemia	18458336	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:224 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212874400-212875800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:212877200-212877400	ZNF genes & repeats	Aorta	Aorta
3	chr2:212877400-212877800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:212877400-212878600	Enhancers	Aorta	Aorta
5	chr2:212877400-212879000	Enhancers	Osteobl	bone
6	chr2:212877600-212877800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:212877600-212878000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:212877600-212881200	Enhancers	Fetal Heart	heart
9	chr2:212878000-212878400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:212878000-212878400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:212878000-212878400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:212878000-212878600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:212878400-212878600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:212878400-212878600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:212878400-212879000	Enhancers	HMEC	breast
16	chr2:212878400-212880200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:212878400-212881600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:212878600-212880200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:212878600-212882600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:212879000-212880200	Weak transcription	Osteobl	bone
21	chr2:212880200-212880600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr2:212880200-212880600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:212880200-212880600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:212880200-212880600	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr2:212880200-212880600	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr2:212880200-212880600	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr2:212880200-212880600	Enhancers	Brain Germinal Matrix	brain
28	chr2:212880200-212880600	Enhancers	HSMMtube	muscle
29	chr2:212880200-212881200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:212880200-212883800	Enhancers	Osteobl	bone
31	chr2:212880400-212880600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:212881000-212884400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:212881200-212882400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:212881200-212883600	Weak transcription	Fetal Heart	heart
35	chr2:212881600-212883000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:212882200-212883200	Enhancers	Muscle Satellite Cultured Cells	--
37	chr2:212882400-212883600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:212882600-212882800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:212882800-212892000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:212883200-212886600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr2:212883600-212884200	Enhancers	Fetal Heart	heart
42	chr2:212883800-212892000	Weak transcription	Osteobl	bone
43	chr2:212884200-212889800	Weak transcription	Fetal Heart	heart
44	chr2:212886600-212887000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr2:212886600-212887200	Enhancers	Muscle Satellite Cultured Cells	--
46	chr2:212886600-212887200	Enhancers	HUVEC	blood vessel
47	chr2:212887000-212887400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:212887000-212887400	Enhancers	HMEC	breast
49	chr2:212887200-212892000	Weak transcription	HUVEC	blood vessel
50	chr2:212887400-212896600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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