Variant report

Variant	nsv1011111
Chromosome Location	chr2:213116621-213178740
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	chr2:213169330..213171305-chr2:213174705..213177385,2	MCF-7	breast:
3	chr2:213108853..213110992-chr2:213114605..213117467,2	MCF-7	breast:
4	chr2:213133438..213135317-chr2:213137687..213139229,2	K562	blood:
5	chr2:213145552..213149044-chr2:213151103..213154081,3	MCF-7	breast:
6	chr2:213169330..213171305-chr2:213174705..213177385,2	MCF-7	breast:
7	chr2:213133438..213135317-chr2:213137687..213139229,2	K562	blood:
8	chr2:213169267..213171740-chr2:213191721..213193864,2	MCF-7	breast:
9	chr2:213165115..213165752-chr21:42883583..42884373,2	MCF-7	breast:
10	chr2:212824327..212826321-chr2:213119385..213121248,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000178568	chromatin interactions

Extended variants
information (count: 2306 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:2306 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372684540	chr2:213116633-213116634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs560114116	chr2:213116722-213116723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536705972	chr2:213116726-213116727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183502892	chr2:213116815-213116816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs56388911	chr2:213116827-213116828	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs114150191	chr2:213116835-213116836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531176199	chr2:213116842-213116843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs116974503	chr2:213116844-213116845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561259142	chr2:213116849-213116850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187946875	chr2:213116865-213116866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs6728429	chr2:213116916-213116917	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs549739313	chr2:213116941-213116942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567949290	chr2:213116954-213116955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs35184022	chr2:213116976-213116977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs114538677	chr2:213116989-213116990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532363247	chr2:213117002-213117003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs12466094	chr2:213117008-213117009	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs150838583	chr2:213117029-213117030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537686748	chr2:213117068-213117069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554766976	chr2:213117092-213117093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568132332	chr2:213117127-213117128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149998015	chr2:213117185-213117186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs13391128	chr2:213117204-213117205	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs553543506	chr2:213117227-213117228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs112886042	chr2:213117364-213117365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs79880715	chr2:213117438-213117439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559320521	chr2:213117488-213117489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192526531	chr2:213117535-213117536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369359464	chr2:213117622-213117623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs1949651	chr2:213117629-213117630	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs138224291	chr2:213117648-213117649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561535972	chr2:213117662-213117663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs77022456	chr2:213117697-213117698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs1521637	chr2:213117724-213117725	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs143835630	chr2:213117730-213117731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs375304987	chr2:213117731-213117732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs560213328	chr2:213117760-213117761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs16848098	chr2:213117769-213117770	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs74913344	chr2:213117771-213117772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs375332597	chr2:213117772-213117773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531653707	chr2:213117780-213117781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs114316195	chr2:213117791-213117792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs200248960	chr2:213117809-213117810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs548136639	chr2:213117818-213117819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189766782	chr2:213117822-213117823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs533736648	chr2:213117824-213117825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs75057348	chr2:213117835-213117836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs66727460	chr2:213117855-213117856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs35476735	chr2:213117856-213117857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs398105282	chr2:213117857-213117858	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	chr2:213114600-213130400	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	chr2:213116200-213117400	Enhancers	Fetal Kidney	kidney
7	chr2:213116600-213117400	Enhancers	Fetal Heart	heart
8	chr2:213117400-213117600	Weak transcription	Fetal Kidney	kidney
9	chr2:213117600-213118800	Enhancers	Fetal Kidney	kidney
10	chr2:213119000-213119400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:213119000-213119400	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr2:213119000-213119400	Enhancers	Brain Angular Gyrus	brain
13	chr2:213119400-213122400	Weak transcription	Brain Angular Gyrus	brain
14	chr2:213121800-213122800	Enhancers	Brain Substantia Nigra	brain
15	chr2:213122400-213122600	Enhancers	Brain Angular Gyrus	brain
16	chr2:213122400-213122800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:213122800-213131200	Weak transcription	Brain Substantia Nigra	brain
18	chr2:213127400-213127600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:213127600-213128000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:213128000-213130800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:213128600-213128800	Enhancers	Brain Anterior Caudate	brain
22	chr2:213128600-213129400	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr2:213128800-213129200	Flanking Active TSS	Brain Anterior Caudate	brain
24	chr2:213128800-213129200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr2:213128800-213129800	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr2:213128800-213130800	Enhancers	Brain Germinal Matrix	brain
27	chr2:213129000-213129200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:213129000-213129800	Enhancers	Psoas Muscle	Psoas
29	chr2:213129200-213141000	Weak transcription	Brain Anterior Caudate	brain
30	chr2:213129400-213130800	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr2:213129400-213131000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:213129600-213130000	Weak transcription	Brain Angular Gyrus	brain
33	chr2:213129600-213133000	Enhancers	Fetal Heart	heart
34	chr2:213129800-213135400	Weak transcription	Psoas Muscle	Psoas
35	chr2:213130400-213130800	Active TSS	Brain Hippocampus Middle	brain
36	chr2:213130800-213131600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr2:213131000-213131200	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr2:213131000-213131200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:213131000-213131600	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr2:213131200-213132000	Enhancers	Brain Substantia Nigra	brain
41	chr2:213131200-213133400	Weak transcription	Brain Angular Gyrus	brain
42	chr2:213131600-213133600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:213132000-213134000	Weak transcription	Brain Substantia Nigra	brain
44	chr2:213133000-213135400	Weak transcription	Fetal Heart	heart
45	chr2:213133400-213134200	Enhancers	Brain Angular Gyrus	brain
46	chr2:213133600-213133800	Enhancers	Brain Hippocampus Middle	brain
47	chr2:213133600-213134400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:213133600-213134600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr2:213134000-213134200	Enhancers	Aorta	Aorta
50	chr2:213134000-213134200	Enhancers	Brain Cingulate Gyrus	brain

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