Variant report

Variant	nsv1012269
Chromosome Location	chr2:212837487-212915640
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	chr2:212891168..212892898-chr5:170814131..170816510,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000181163	chromatin interactions

Extended variants
information (count: 1901 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1901 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553442268	chr2:212841832-212841833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs146634823	chr2:212841836-212841837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558862041	chr2:212841858-212841859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2102996	chr2:212841868-212841869	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs149206232	chr2:212841900-212841901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10932413	chr2:212841906-212841907	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs28376021	chr2:212841915-212841916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs11891843	chr2:212841920-212841921	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs143399061	chr2:212841921-212841922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560267007	chr2:212841933-212841934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577203305	chr2:212841975-212841976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546111270	chr2:212841984-212841985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73081349	chr2:212842057-212842058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs13401816	chr2:212842075-212842076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs17414925	chr2:212842122-212842123	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs13401917	chr2:212842134-212842135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs1607997	chr2:212842175-212842176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs4616423	chr2:212842189-212842190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535934861	chr2:212842205-212842206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs71409865	chr2:212842221-212842222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs77064543	chr2:212842223-212842224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs368327085	chr2:212842256-212842257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs370595284	chr2:212842273-212842274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs115985189	chr2:212842274-212842275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs11688309	chr2:212842293-212842294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs547503527	chr2:212842305-212842306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs151291190	chr2:212842327-212842328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs13025703	chr2:212842334-212842335	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs562970573	chr2:212842359-212842360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549367239	chr2:212842360-212842361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188637759	chr2:212842370-212842371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs562717088	chr2:212842387-212842388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs77314582	chr2:212842460-212842461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs575007282	chr2:212842559-212842560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs56242420	chr2:212842567-212842568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs370382705	chr2:212842583-212842584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs34095237	chr2:212842584-212842585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534020673	chr2:212842597-212842598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs397936945	chr2:212842598-212842599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs558599672	chr2:212845853-212845854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs578242178	chr2:212845875-212845876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532788007	chr2:212845881-212845882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563893988	chr2:212845896-212845897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs839542	chr2:212845904-212845905	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs543106168	chr2:212845908-212845909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs559544292	chr2:212845909-212845910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs183678263	chr2:212845912-212845913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs534548134	chr2:212845915-212845916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551328054	chr2:212845938-212845939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs139700625	chr2:212845940-212845941	Enhancers	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:187 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212841800-212842600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:212845800-212847400	Enhancers	Fetal Heart	heart
3	chr2:212845800-212848200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:212845800-212848200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:212846400-212846600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:212846400-212848000	Enhancers	HUVEC	blood vessel
7	chr2:212847400-212853000	Weak transcription	Fetal Heart	heart
8	chr2:212853000-212853800	Enhancers	Fetal Heart	heart
9	chr2:212854600-212855200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:212859400-212859800	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr2:212859400-212859800	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr2:212861400-212861800	Enhancers	GM12878-XiMat	blood
13	chr2:212865000-212865200	Enhancers	Brain Hippocampus Middle	brain
14	chr2:212865200-212865800	Weak transcription	Brain Hippocampus Middle	brain
15	chr2:212865800-212866400	Enhancers	Brain Anterior Caudate	brain
16	chr2:212865800-212866600	Enhancers	Brain Hippocampus Middle	brain
17	chr2:212872600-212874400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:212874200-212874800	Enhancers	Brain Angular Gyrus	brain
19	chr2:212874400-212875800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:212877200-212877400	ZNF genes & repeats	Aorta	Aorta
21	chr2:212877400-212877800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:212877400-212878600	Enhancers	Aorta	Aorta
23	chr2:212877400-212879000	Enhancers	Osteobl	bone
24	chr2:212877600-212877800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:212877600-212878000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:212877600-212881200	Enhancers	Fetal Heart	heart
27	chr2:212878000-212878400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:212878000-212878400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:212878000-212878400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:212878000-212878600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:212878400-212878600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:212878400-212878600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:212878400-212879000	Enhancers	HMEC	breast
34	chr2:212878400-212880200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:212878400-212881600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:212878600-212880200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:212878600-212882600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:212879000-212880200	Weak transcription	Osteobl	bone
39	chr2:212880200-212880600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr2:212880200-212880600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:212880200-212880600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:212880200-212880600	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr2:212880200-212880600	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr2:212880200-212880600	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr2:212880200-212880600	Enhancers	Brain Germinal Matrix	brain
46	chr2:212880200-212880600	Enhancers	HSMMtube	muscle
47	chr2:212880200-212881200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:212880200-212883800	Enhancers	Osteobl	bone
49	chr2:212880400-212880600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr2:212881000-212884400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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