Variant report

Variant	nsv875777
Chromosome Location	chr2:212274937-212295875
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:212269284..212272087-chr2:212272450..212275433,2	MCF-7	breast:
2	chr2:212286106..212287792-chr2:212289650..212291629,2	MCF-7	breast:
3	chr2:212272741..212273872-chr2:212287513..212288333,3	MCF-7	breast:
4	chr2:212286106..212287792-chr2:212289650..212291629,2	MCF-7	breast:
5	chr2:212288710..212290756-chr2:212380740..212383126,2	MCF-7	breast:
6	chr2:212293615..212295597-chr2:212299966..212301687,2	MCF-7	breast:
7	chr2:212287473..212288501-chr2:212299594..212300619,4	MCF-7	breast:
8	chr2:212287546..212288501-chr2:212299663..212300619,3	MCF-7	breast:
9	chr2:212286937..212289642-chr2:212291657..212294876,4	MCF-7	breast:
10	chr2:212273255..212274799-chr2:212286718..212289197,2	MCF-7	breast:
11	chr2:212265066..212266731-chr2:212291564..212294489,2	MCF-7	breast:
12	chr2:212286937..212289642-chr2:212291657..212294876,4	MCF-7	breast:
13	chr2:212290669..212293299-chr2:212299523..212302386,3	MCF-7	breast:
14	chr2:212292912..212295358-chr2:212296478..212299091,2	MCF-7	breast:

No data

Extended variants
information (count: 852 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:852 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3828242	chr2:212274937-212274938	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs564924659	chr2:212274955-212274956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530883103	chr2:212274960-212274961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182539306	chr2:212274970-212274971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187718380	chr2:212275000-212275001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144944574	chr2:212275008-212275009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs3791700	chr2:212275020-212275021	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs367756572	chr2:212275038-212275039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566262162	chr2:212275072-212275073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs538335008	chr2:212275073-212275074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532688465	chr2:212275139-212275140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571700827	chr2:212275176-212275177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs3791701	chr2:212275221-212275222	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs147921932	chr2:212275235-212275236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562554112	chr2:212275247-212275248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs193102117	chr2:212275303-212275304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536674127	chr2:212275463-212275464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553389337	chr2:212275472-212275473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10176936	chr2:212275502-212275503	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs545170199	chr2:212275515-212275516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565094653	chr2:212275577-212275578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575308277	chr2:212275592-212275593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544513601	chr2:212275601-212275602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113781719	chr2:212275605-212275606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530004244	chr2:212275675-212275676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561052777	chr2:212275692-212275693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141751863	chr2:212275694-212275695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546228704	chr2:212275697-212275698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112692572	chr2:212275753-212275754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532081098	chr2:212275768-212275769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551944506	chr2:212275782-212275783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571827626	chr2:212275783-212275784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537219544	chr2:212275785-212275786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185577647	chr2:212275798-212275799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551132490	chr2:212275940-212275941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527575921	chr2:212275941-212275942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188510152	chr2:212275975-212275976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553452693	chr2:212276024-212276025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573230349	chr2:212276059-212276060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552395322	chr2:212276064-212276065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539135183	chr2:212276087-212276088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558751702	chr2:212276097-212276098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534695713	chr2:212276098-212276099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575669087	chr2:212276108-212276109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544108781	chr2:212276118-212276119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554331366	chr2:212276199-212276200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192063696	chr2:212276224-212276225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570506362	chr2:212276232-212276233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184337029	chr2:212276247-212276248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534113354	chr2:212276271-212276272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212271000-212275000	Enhancers	Fetal Brain Male	brain
2	chr2:212272200-212275200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:212272600-212275200	Enhancers	Brain Germinal Matrix	brain
4	chr2:212273600-212278400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:212274400-212275200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:212274800-212275000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:212275200-212278200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:212278200-212278800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:212278200-212283200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:212278400-212278800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:212278600-212278800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:212278600-212279000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:212278800-212281400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr2:212278800-212283800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:212279400-212294600	Weak transcription	Fetal Heart	heart
16	chr2:212281400-212281600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:212281600-212301200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:212283200-212283600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:212283200-212289000	Weak transcription	Brain Angular Gyrus	brain
20	chr2:212283600-212286800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:212283800-212286800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:212285000-212285400	Enhancers	HUVEC	blood vessel
23	chr2:212285400-212286600	Weak transcription	HUVEC	blood vessel
24	chr2:212286600-212287000	Enhancers	HUVEC	blood vessel
25	chr2:212286800-212287400	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:212286800-212287600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:212287000-212295400	Weak transcription	HUVEC	blood vessel
28	chr2:212287400-212287800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:212287600-212288200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:212287600-212289200	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr2:212287800-212288000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:212288000-212288200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:212288200-212292800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:212288200-212302400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:212293600-212294200	Enhancers	Brain Substantia Nigra	brain
36	chr2:212294000-212294400	Enhancers	Brain Cingulate Gyrus	brain
37	chr2:212294000-212294400	Enhancers	Brain Hippocampus Middle	brain
38	chr2:212294000-212294400	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr2:212294000-212294800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr2:212294200-212294600	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr2:212294200-212294600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:212294200-212294600	Enhancers	Brain Anterior Caudate	brain
43	chr2:212295400-212296000	Enhancers	HUVEC	blood vessel

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