Variant report

Variant	nsv834526
Chromosome Location	chr2:213114901-213237146
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:212824327..212826321-chr2:213119385..213121248,2	MCF-7	breast:
2	chr2:213213790..213216008-chr2:213223245..213225984,2	MCF-7	breast:
3	chr2:213223218..213224821-chr2:213227410..213229033,2	MCF-7	breast:
4	chr2:213223218..213224821-chr2:213227410..213229033,2	MCF-7	breast:
5	chr2:213202563..213204297-chr2:213206010..213208677,2	K562	blood:
6	chr2:213217638..213221383-chr2:213223310..213226579,3	MCF-7	breast:
7	chr2:213108853..213110992-chr2:213114605..213117467,2	MCF-7	breast:
8	chr2:213169330..213171305-chr2:213174705..213177385,2	MCF-7	breast:
9	chr2:213169267..213171740-chr2:213191721..213193864,2	MCF-7	breast:
10	chr2:213165115..213165752-chr21:42883583..42884373,2	MCF-7	breast:
11	chr2:213133438..213135317-chr2:213137687..213139229,2	K562	blood:
12	chr2:213145552..213149044-chr2:213151103..213154081,3	MCF-7	breast:
13	chr2:213202563..213204297-chr2:213206010..213208677,2	K562	blood:
14	chr2:213217638..213221383-chr2:213223310..213226579,3	MCF-7	breast:
15	chr2:213110335..213112278-chr2:213114371..213115906,2	MCF-7	breast:
16	chr2:213169267..213171740-chr2:213191721..213193864,2	MCF-7	breast:
17	chr2:213213790..213216008-chr2:213223245..213225984,2	MCF-7	breast:
18	chr2:213169330..213171305-chr2:213174705..213177385,2	MCF-7	breast:
19	chr2:213145552..213149044-chr2:213151103..213154081,3	MCF-7	breast:
20	chr2:213133438..213135317-chr2:213137687..213139229,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000178568	chromatin interactions

Extended variants
information (count: 4687 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:4687 , 50 per page) page: 1 2 3 4 5 6 7 ... 94

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553188360	chr2:213115079-213115080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs141754397	chr2:213115146-213115147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs368799521	chr2:213115148-213115149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548211423	chr2:213115177-213115178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572991900	chr2:213115179-213115180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544798590	chr2:213115216-213115217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564674485	chr2:213115237-213115238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530537970	chr2:213115238-213115239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1949655	chr2:213115297-213115298	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs149916064	chr2:213115379-213115380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529651523	chr2:213115394-213115395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533918275	chr2:213115430-213115431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529075506	chr2:213115469-213115470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568096398	chr2:213115520-213115521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200400420	chr2:213115527-213115528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566361099	chr2:213115601-213115602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111386459	chr2:213115656-213115657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs74770307	chr2:213115663-213115664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs1983403	chr2:213115677-213115678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149021551	chr2:213115705-213115706	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10497969	chr2:213115743-213115744	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs537564188	chr2:213115760-213115761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553868378	chr2:213115772-213115773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551047935	chr2:213115776-213115777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567558514	chr2:213115836-213115837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs16848093	chr2:213115840-213115841	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs553037678	chr2:213115845-213115846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78071944	chr2:213115846-213115847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187674227	chr2:213115878-213115879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547352636	chr2:213115935-213115936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs16848095	chr2:213115952-213115953	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs567679137	chr2:213115995-213115996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143034178	chr2:213116005-213116006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs80019179	chr2:213116007-213116008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561028967	chr2:213116023-213116024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556007835	chr2:213116026-213116027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574396791	chr2:213116033-213116034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7587246	chr2:213116085-213116086	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs138897101	chr2:213116136-213116137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372876840	chr2:213116144-213116145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs13426487	chr2:213116181-213116182	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs552074507	chr2:213116183-213116184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113831758	chr2:213116196-213116197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531087138	chr2:213116197-213116198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572441757	chr2:213116300-213116301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs146979041	chr2:213116351-213116352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs138149649	chr2:213116367-213116368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs536276132	chr2:213116393-213116394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs56395249	chr2:213116401-213116402	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs201208341	chr2:213116416-213116417	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:472 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213107800-213134000	Weak transcription	Aorta	Aorta
2	chr2:213114200-213116600	Weak transcription	Fetal Heart	heart
3	chr2:213114400-213115200	Enhancers	Brain Angular Gyrus	brain
4	chr2:213114600-213130400	Weak transcription	Brain Hippocampus Middle	brain
5	chr2:213114800-213115000	Weak transcription	Brain Substantia Nigra	brain
6	chr2:213115000-213115400	Enhancers	Brain Cingulate Gyrus	brain
7	chr2:213115000-213115400	Enhancers	Brain Substantia Nigra	brain
8	chr2:213115200-213115800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:213115200-213119000	Weak transcription	Brain Angular Gyrus	brain
10	chr2:213115400-213121800	Weak transcription	Brain Substantia Nigra	brain
11	chr2:213115400-213134000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr2:213116200-213117400	Enhancers	Fetal Kidney	kidney
13	chr2:213116600-213117400	Enhancers	Fetal Heart	heart
14	chr2:213117400-213117600	Weak transcription	Fetal Kidney	kidney
15	chr2:213117600-213118800	Enhancers	Fetal Kidney	kidney
16	chr2:213119000-213119400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:213119000-213119400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr2:213119000-213119400	Enhancers	Brain Angular Gyrus	brain
19	chr2:213119400-213122400	Weak transcription	Brain Angular Gyrus	brain
20	chr2:213121800-213122800	Enhancers	Brain Substantia Nigra	brain
21	chr2:213122400-213122600	Enhancers	Brain Angular Gyrus	brain
22	chr2:213122400-213122800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:213122800-213131200	Weak transcription	Brain Substantia Nigra	brain
24	chr2:213127400-213127600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:213127600-213128000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:213128000-213130800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:213128600-213128800	Enhancers	Brain Anterior Caudate	brain
28	chr2:213128600-213129400	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr2:213128800-213129200	Flanking Active TSS	Brain Anterior Caudate	brain
30	chr2:213128800-213129200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr2:213128800-213129800	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr2:213128800-213130800	Enhancers	Brain Germinal Matrix	brain
33	chr2:213129000-213129200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:213129000-213129800	Enhancers	Psoas Muscle	Psoas
35	chr2:213129200-213141000	Weak transcription	Brain Anterior Caudate	brain
36	chr2:213129400-213130800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr2:213129400-213131000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr2:213129600-213130000	Weak transcription	Brain Angular Gyrus	brain
39	chr2:213129600-213133000	Enhancers	Fetal Heart	heart
40	chr2:213129800-213135400	Weak transcription	Psoas Muscle	Psoas
41	chr2:213130400-213130800	Active TSS	Brain Hippocampus Middle	brain
42	chr2:213130800-213131600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:213131000-213131200	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr2:213131000-213131200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:213131000-213131600	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr2:213131200-213132000	Enhancers	Brain Substantia Nigra	brain
47	chr2:213131200-213133400	Weak transcription	Brain Angular Gyrus	brain
48	chr2:213131600-213133600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr2:213132000-213134000	Weak transcription	Brain Substantia Nigra	brain
50	chr2:213133000-213135400	Weak transcription	Fetal Heart	heart

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