Variant report

Variant	nsv584349
Chromosome Location	chr2:213117976-213200920
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:213145552..213149044-chr2:213151103..213154081,3	MCF-7	breast:
2	chr2:212824327..212826321-chr2:213119385..213121248,2	MCF-7	breast:
3	chr2:213169267..213171740-chr2:213191721..213193864,2	MCF-7	breast:
4	chr2:213133438..213135317-chr2:213137687..213139229,2	K562	blood:
5	chr2:213169330..213171305-chr2:213174705..213177385,2	MCF-7	breast:
6	chr2:213169330..213171305-chr2:213174705..213177385,2	MCF-7	breast:
7	chr2:213169267..213171740-chr2:213191721..213193864,2	MCF-7	breast:
8	chr2:213165115..213165752-chr21:42883583..42884373,2	MCF-7	breast:
9	chr2:213133438..213135317-chr2:213137687..213139229,2	K562	blood:
10	chr2:213145552..213149044-chr2:213151103..213154081,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000178568	chromatin interactions

Extended variants
information (count: 3229 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:3229 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs58671990	chr2:213117976-213117977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540451471	chr2:213118015-213118016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181598678	chr2:213118039-213118040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569761288	chr2:213118159-213118160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532488008	chr2:213118177-213118178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs79559063	chr2:213118186-213118187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs143936743	chr2:213118204-213118205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs373362831	chr2:213118235-213118236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184652075	chr2:213118287-213118288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566773002	chr2:213118310-213118311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs189412473	chr2:213118313-213118314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181973922	chr2:213118314-213118315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73066351	chr2:213118321-213118322	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs547599078	chr2:213118382-213118383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs570625915	chr2:213118404-213118405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114785506	chr2:213118414-213118415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs79130257	chr2:213118446-213118447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146362282	chr2:213118450-213118451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557937243	chr2:213118462-213118463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs373804561	chr2:213118485-213118486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555274903	chr2:213118488-213118489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185845981	chr2:213118501-213118502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs578147611	chr2:213118540-213118541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534474654	chr2:213118582-213118583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553969756	chr2:213118611-213118612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs576976005	chr2:213118638-213118639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543981436	chr2:213118655-213118656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs115777599	chr2:213118663-213118664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs113998215	chr2:213118722-213118723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576427633	chr2:213118729-213118730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs541836253	chr2:213118763-213118764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs78651968	chr2:213118767-213118768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs527606223	chr2:213118786-213118787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541338503	chr2:213118797-213118798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs199666510	chr2:213118825-213118826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542931032	chr2:213118880-213118881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11339499	chr2:213118881-213118882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560019080	chr2:213118885-213118886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113120306	chr2:213118937-213118938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564284352	chr2:213118957-213118958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112333884	chr2:213118993-213118994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7572084	chr2:213118999-213119000	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs17418160	chr2:213119022-213119023	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs113713398	chr2:213119058-213119059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548721747	chr2:213119067-213119068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565644259	chr2:213119071-213119072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569498044	chr2:213119075-213119076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181128736	chr2:213119110-213119111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554002177	chr2:213119124-213119125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150947651	chr2:213119167-213119168	Enhancers 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:202 , 50 per page) page: 1 2 3 4 5

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	chr2:213115200-213119000	Weak transcription	Brain Angular Gyrus	brain
4	chr2:213115400-213121800	Weak transcription	Brain Substantia Nigra	brain
5	chr2:213115400-213134000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr2:213117600-213118800	Enhancers	Fetal Kidney	kidney
7	chr2:213119000-213119400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:213119000-213119400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr2:213119000-213119400	Enhancers	Brain Angular Gyrus	brain
10	chr2:213119400-213122400	Weak transcription	Brain Angular Gyrus	brain
11	chr2:213121800-213122800	Enhancers	Brain Substantia Nigra	brain
12	chr2:213122400-213122600	Enhancers	Brain Angular Gyrus	brain
13	chr2:213122400-213122800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:213122800-213131200	Weak transcription	Brain Substantia Nigra	brain
15	chr2:213127400-213127600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:213127600-213128000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:213128000-213130800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:213128600-213128800	Enhancers	Brain Anterior Caudate	brain
19	chr2:213128600-213129400	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr2:213128800-213129200	Flanking Active TSS	Brain Anterior Caudate	brain
21	chr2:213128800-213129200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr2:213128800-213129800	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr2:213128800-213130800	Enhancers	Brain Germinal Matrix	brain
24	chr2:213129000-213129200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:213129000-213129800	Enhancers	Psoas Muscle	Psoas
26	chr2:213129200-213141000	Weak transcription	Brain Anterior Caudate	brain
27	chr2:213129400-213130800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr2:213129400-213131000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr2:213129600-213130000	Weak transcription	Brain Angular Gyrus	brain
30	chr2:213129600-213133000	Enhancers	Fetal Heart	heart
31	chr2:213129800-213135400	Weak transcription	Psoas Muscle	Psoas
32	chr2:213130400-213130800	Active TSS	Brain Hippocampus Middle	brain
33	chr2:213130800-213131600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:213131000-213131200	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr2:213131000-213131200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr2:213131000-213131600	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr2:213131200-213132000	Enhancers	Brain Substantia Nigra	brain
38	chr2:213131200-213133400	Weak transcription	Brain Angular Gyrus	brain
39	chr2:213131600-213133600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr2:213132000-213134000	Weak transcription	Brain Substantia Nigra	brain
41	chr2:213133000-213135400	Weak transcription	Fetal Heart	heart
42	chr2:213133400-213134200	Enhancers	Brain Angular Gyrus	brain
43	chr2:213133600-213133800	Enhancers	Brain Hippocampus Middle	brain
44	chr2:213133600-213134400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:213133600-213134600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:213134000-213134200	Enhancers	Aorta	Aorta
47	chr2:213134000-213134200	Enhancers	Brain Cingulate Gyrus	brain
48	chr2:213134000-213134400	Enhancers	Brain Substantia Nigra	brain
49	chr2:213134200-213145200	Weak transcription	Aorta	Aorta
50	chr2:213134400-213147400	Weak transcription	Brain Substantia Nigra	brain

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