Variant report

Variant	nsv460078
Chromosome Location	chr2:213130571-213192660
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

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

No data

Extended variants
information (count: 2410 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:2410 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6745249	chr2:213130571-213130572	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs191216066	chr2:213130584-213130585	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs116476943	chr2:213130617-213130618	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs142242240	chr2:213130655-213130656	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs80061298	chr2:213130688-213130689	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs180802557	chr2:213130689-213130690	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs201509173	chr2:213130690-213130691	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs62182621	chr2:213130738-213130739	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs185374920	chr2:213130775-213130776	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs77154587	chr2:213130785-213130786	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs577194238	chr2:213130793-213130794	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs539807816	chr2:213130823-213130824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556252198	chr2:213130832-213130833	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576428602	chr2:213130834-213130835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62182622	chr2:213130902-213130903	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs561875619	chr2:213130930-213130931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs151195211	chr2:213130979-213130980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574648892	chr2:213131126-213131127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540815359	chr2:213131165-213131166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34585816	chr2:213131166-213131167	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140343991	chr2:213131194-213131195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191306926	chr2:213131216-213131217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549768919	chr2:213131231-213131232	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6727447	chr2:213131261-213131262	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs551297466	chr2:213131273-213131274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531890634	chr2:213131285-213131286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548461788	chr2:213131339-213131340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368276292	chr2:213131366-213131367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs17418292	chr2:213131372-213131373	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs144090995	chr2:213131402-213131403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183008758	chr2:213131433-213131434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188491192	chr2:213131437-213131438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556601655	chr2:213131485-213131486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576465808	chr2:213131529-213131530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200767604	chr2:213131542-213131543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535790127	chr2:213131564-213131565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146825892	chr2:213131570-213131571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191535066	chr2:213131574-213131575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541236674	chr2:213131658-213131659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs112628855	chr2:213131666-213131667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183038436	chr2:213131676-213131677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs543108735	chr2:213131723-213131724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs78819283	chr2:213131751-213131752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187650012	chr2:213131755-213131756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs75865043	chr2:213131779-213131780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564851768	chr2:213131797-213131798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs527947562	chr2:213131826-213131827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547994755	chr2:213131881-213131882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192650571	chr2:213131909-213131910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs539933740	chr2:213131925-213131926	Weak transcription Enhancers	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:144 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213107800-213134000	Weak transcription	Aorta	Aorta
2	chr2:213115400-213134000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr2:213122800-213131200	Weak transcription	Brain Substantia Nigra	brain
4	chr2:213128000-213130800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:213128800-213130800	Enhancers	Brain Germinal Matrix	brain
6	chr2:213129200-213141000	Weak transcription	Brain Anterior Caudate	brain
7	chr2:213129400-213130800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr2:213129400-213131000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:213129600-213133000	Enhancers	Fetal Heart	heart
10	chr2:213129800-213135400	Weak transcription	Psoas Muscle	Psoas
11	chr2:213130400-213130800	Active TSS	Brain Hippocampus Middle	brain
12	chr2:213130800-213131600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:213131000-213131200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr2:213131000-213131200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:213131000-213131600	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr2:213131200-213132000	Enhancers	Brain Substantia Nigra	brain
17	chr2:213131200-213133400	Weak transcription	Brain Angular Gyrus	brain
18	chr2:213131600-213133600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:213132000-213134000	Weak transcription	Brain Substantia Nigra	brain
20	chr2:213133000-213135400	Weak transcription	Fetal Heart	heart
21	chr2:213133400-213134200	Enhancers	Brain Angular Gyrus	brain
22	chr2:213133600-213133800	Enhancers	Brain Hippocampus Middle	brain
23	chr2:213133600-213134400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:213133600-213134600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:213134000-213134200	Enhancers	Aorta	Aorta
26	chr2:213134000-213134200	Enhancers	Brain Cingulate Gyrus	brain
27	chr2:213134000-213134400	Enhancers	Brain Substantia Nigra	brain
28	chr2:213134200-213145200	Weak transcription	Aorta	Aorta
29	chr2:213134400-213147400	Weak transcription	Brain Substantia Nigra	brain
30	chr2:213135400-213136000	Enhancers	Psoas Muscle	Psoas
31	chr2:213135400-213139200	Enhancers	Fetal Heart	heart
32	chr2:213136000-213136200	Weak transcription	Psoas Muscle	Psoas
33	chr2:213136200-213136600	Enhancers	Psoas Muscle	Psoas
34	chr2:213136400-213137400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr2:213136600-213147400	Weak transcription	Psoas Muscle	Psoas
36	chr2:213139000-213139200	Enhancers	Brain Hippocampus Middle	brain
37	chr2:213139200-213145400	Weak transcription	Fetal Heart	heart
38	chr2:213139200-213146200	Weak transcription	Brain Hippocampus Middle	brain
39	chr2:213141000-213141200	Enhancers	Brain Anterior Caudate	brain
40	chr2:213141000-213141400	Enhancers	Fetal Kidney	kidney
41	chr2:213141200-213141600	Weak transcription	Brain Anterior Caudate	brain
42	chr2:213141200-213142000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:213141600-213141800	Enhancers	Brain Anterior Caudate	brain
44	chr2:213141800-213147400	Weak transcription	Brain Anterior Caudate	brain
45	chr2:213142000-213147200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:213145200-213145600	Enhancers	Aorta	Aorta
47	chr2:213145400-213145600	Enhancers	Fetal Heart	heart
48	chr2:213145600-213146000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr2:213145600-213146000	Weak transcription	Fetal Heart	heart
50	chr2:213145600-213146800	Weak transcription	Aorta	Aorta

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