Variant report

Variant	nsv584351
Chromosome Location	chr2:213122718-213165247
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:213133438..213135317-chr2:213137687..213139229,2	K562	blood:
2	chr2:213133438..213135317-chr2:213137687..213139229,2	K562	blood:
3	chr2:213145552..213149044-chr2:213151103..213154081,3	MCF-7	breast:
4	chr2:213145552..213149044-chr2:213151103..213154081,3	MCF-7	breast:
5	chr2:213165115..213165752-chr21:42883583..42884373,2	MCF-7	breast:

Extended variants
information (count: 1633 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1633 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1948875	chr2:213122718-213122719	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs544457457	chr2:213122772-213122773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200308627	chr2:213122977-213122978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561499048	chr2:213123048-213123049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149606565	chr2:213123059-213123060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533463580	chr2:213123061-213123062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190526680	chr2:213123062-213123063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs13393548	chr2:213123100-213123101	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs144351097	chr2:213123103-213123104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552493524	chr2:213123127-213123128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562621626	chr2:213123135-213123136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531565753	chr2:213123158-213123159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542805347	chr2:213123197-213123198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568231125	chr2:213123205-213123206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs115628646	chr2:213123223-213123224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs1521635	chr2:213123254-213123255	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs570501740	chr2:213123279-213123280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373663171	chr2:213123293-213123294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs114527315	chr2:213123323-213123324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368753829	chr2:213123350-213123351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs62182619	chr2:213123391-213123392	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs6731885	chr2:213123395-213123396	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs148633404	chr2:213123399-213123400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1521634	chr2:213123423-213123424	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs16848124	chr2:213123460-213123461	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs576857561	chr2:213123498-213123499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545864192	chr2:213123533-213123534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562864843	chr2:213123565-213123566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531526520	chr2:213123570-213123571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183588461	chr2:213123604-213123605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375050991	chr2:213123615-213123616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561871647	chr2:213123626-213123627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527472980	chr2:213123872-213123873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187384670	chr2:213123879-213123880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192061401	chr2:213123930-213123931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570540604	chr2:213123933-213123934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532977930	chr2:213123974-213123975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376010482	chr2:213124022-213124023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369057051	chr2:213124024-213124025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549533165	chr2:213124051-213124052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373375788	chr2:213124059-213124060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs79230491	chr2:213124111-213124112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554834099	chr2:213124112-213124113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528305246	chr2:213124124-213124125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs17418250	chr2:213124160-213124161	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs201259347	chr2:213124218-213124219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534107283	chr2:213124227-213124228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182779086	chr2:213124234-213124235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186860928	chr2:213124260-213124261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191684677	chr2:213124263-213124264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Pancreatic cancer	17952125	CNVD
Schizophrenia	18990708	CNVD
Acute lymphoblastic leukemia	22237106	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213107800-213134000	Weak transcription	Aorta	Aorta
2	chr2:213114600-213130400	Weak transcription	Brain Hippocampus Middle	brain
3	chr2:213115400-213134000	Weak transcription	Brain Cingulate Gyrus	brain
4	chr2:213121800-213122800	Enhancers	Brain Substantia Nigra	brain
5	chr2:213122400-213122800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:213122800-213131200	Weak transcription	Brain Substantia Nigra	brain
7	chr2:213127400-213127600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:213127600-213128000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:213128000-213130800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:213128600-213128800	Enhancers	Brain Anterior Caudate	brain
11	chr2:213128600-213129400	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr2:213128800-213129200	Flanking Active TSS	Brain Anterior Caudate	brain
13	chr2:213128800-213129200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr2:213128800-213129800	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr2:213128800-213130800	Enhancers	Brain Germinal Matrix	brain
16	chr2:213129000-213129200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:213129000-213129800	Enhancers	Psoas Muscle	Psoas
18	chr2:213129200-213141000	Weak transcription	Brain Anterior Caudate	brain
19	chr2:213129400-213130800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr2:213129400-213131000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr2:213129600-213130000	Weak transcription	Brain Angular Gyrus	brain
22	chr2:213129600-213133000	Enhancers	Fetal Heart	heart
23	chr2:213129800-213135400	Weak transcription	Psoas Muscle	Psoas
24	chr2:213130400-213130800	Active TSS	Brain Hippocampus Middle	brain
25	chr2:213130800-213131600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:213131000-213131200	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr2:213131000-213131200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:213131000-213131600	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr2:213131200-213132000	Enhancers	Brain Substantia Nigra	brain
30	chr2:213131200-213133400	Weak transcription	Brain Angular Gyrus	brain
31	chr2:213131600-213133600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:213132000-213134000	Weak transcription	Brain Substantia Nigra	brain
33	chr2:213133000-213135400	Weak transcription	Fetal Heart	heart
34	chr2:213133400-213134200	Enhancers	Brain Angular Gyrus	brain
35	chr2:213133600-213133800	Enhancers	Brain Hippocampus Middle	brain
36	chr2:213133600-213134400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:213133600-213134600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr2:213134000-213134200	Enhancers	Aorta	Aorta
39	chr2:213134000-213134200	Enhancers	Brain Cingulate Gyrus	brain
40	chr2:213134000-213134400	Enhancers	Brain Substantia Nigra	brain
41	chr2:213134200-213145200	Weak transcription	Aorta	Aorta
42	chr2:213134400-213147400	Weak transcription	Brain Substantia Nigra	brain
43	chr2:213135400-213136000	Enhancers	Psoas Muscle	Psoas
44	chr2:213135400-213139200	Enhancers	Fetal Heart	heart
45	chr2:213136000-213136200	Weak transcription	Psoas Muscle	Psoas
46	chr2:213136200-213136600	Enhancers	Psoas Muscle	Psoas
47	chr2:213136400-213137400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr2:213136600-213147400	Weak transcription	Psoas Muscle	Psoas
49	chr2:213139000-213139200	Enhancers	Brain Hippocampus Middle	brain
50	chr2:213139200-213145400	Weak transcription	Fetal Heart	heart

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