Variant report

Variant	nsv1010294
Chromosome Location	chr2:213162156-213194322
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:213165115..213165752-chr21:42883583..42884373,2	MCF-7	breast:
2	chr2:213169267..213171740-chr2:213191721..213193864,2	MCF-7	breast:
3	chr2:213169330..213171305-chr2:213174705..213177385,2	MCF-7	breast:
4	chr2:213169267..213171740-chr2:213191721..213193864,2	MCF-7	breast:
5	chr2:213169330..213171305-chr2:213174705..213177385,2	MCF-7	breast:

Extended variants
information (count: 1244 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1244 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377526391	chr2:213162222-213162223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371891462	chr2:213162254-213162255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114563034	chr2:213162293-213162294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs6711391	chr2:213162300-213162301	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs557429364	chr2:213162307-213162308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547241973	chr2:213162317-213162318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs6726609	chr2:213162348-213162349	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs148696962	chr2:213162368-213162369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373845091	chr2:213162370-213162371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539125963	chr2:213162372-213162373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs6726721	chr2:213162391-213162392	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs569299446	chr2:213162512-213162513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs193114637	chr2:213162531-213162532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543444543	chr2:213162559-213162560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555244365	chr2:213162588-213162589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575001976	chr2:213162649-213162650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184350430	chr2:213162651-213162652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554056089	chr2:213162661-213162662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577462677	chr2:213162684-213162685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527433967	chr2:213162689-213162690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546312991	chr2:213162722-213162723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562932793	chr2:213162723-213162724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540919967	chr2:213162808-213162809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73066390	chr2:213162842-213162843	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs562032059	chr2:213162850-213162851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141451348	chr2:213162854-213162855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs6743354	chr2:213162875-213162876	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs570351293	chr2:213162887-213162888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189190251	chr2:213162893-213162894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532903785	chr2:213162908-213162909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376565082	chr2:213162945-213162946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs180997795	chr2:213162950-213162951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569364043	chr2:213162958-213162959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs114399200	chr2:213162961-213162962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548664486	chr2:213162992-213162993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115024554	chr2:213163044-213163045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183974094	chr2:213163074-213163075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554448788	chr2:213163086-213163087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6730486	chr2:213163097-213163098	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs539995425	chr2:213163111-213163112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs75752953	chr2:213163126-213163127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570007585	chr2:213163143-213163144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542243109	chr2:213163167-213163168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6715334	chr2:213163186-213163187	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs34442521	chr2:213163225-213163226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555859329	chr2:213163257-213163258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188654863	chr2:213163262-213163263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181484635	chr2:213163319-213163320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73066391	chr2:213163327-213163328	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs150405315	chr2:213163344-213163345	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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213160000-213164200	Weak transcription	Brain Substantia Nigra	brain
2	chr2:213161400-213162200	Enhancers	Brain Angular Gyrus	brain
3	chr2:213164200-213164800	Enhancers	Brain Cingulate Gyrus	brain
4	chr2:213164600-213165000	Enhancers	Brain Anterior Caudate	brain
5	chr2:213164800-213165200	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr2:213168600-213168800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:213168800-213197200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:213171000-213172000	Enhancers	Adipose Nuclei	Adipose
9	chr2:213171000-213172400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:213175200-213175400	Enhancers	Fetal Heart	heart
11	chr2:213175400-213180200	Weak transcription	Fetal Heart	heart
12	chr2:213176400-213177000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:213180200-213183200	Enhancers	Fetal Heart	heart
14	chr2:213180800-213181200	Enhancers	Brain Substantia Nigra	brain
15	chr2:213180800-213181400	Enhancers	Aorta	Aorta
16	chr2:213181000-213181200	Enhancers	Psoas Muscle	Psoas
17	chr2:213181000-213181400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr2:213181000-213181400	Enhancers	Pancreas	Pancrea
19	chr2:213181200-213195000	Weak transcription	Psoas Muscle	Psoas
20	chr2:213183200-213194200	Weak transcription	Fetal Heart	heart
21	chr2:213184400-213185400	Enhancers	Fetal Kidney	kidney
22	chr2:213184400-213185600	Enhancers	Fetal Lung	lung
23	chr2:213185400-213186600	Weak transcription	Fetal Kidney	kidney
24	chr2:213185600-213192000	Weak transcription	Fetal Lung	lung
25	chr2:213189000-213194800	Weak transcription	Aorta	Aorta
26	chr2:213190600-213194800	Weak transcription	Fetal Kidney	kidney
27	chr2:213191600-213192200	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr2:213192000-213192200	Enhancers	Fetal Lung	lung
29	chr2:213192000-213192200	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr2:213192000-213192400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:213192000-213192400	Enhancers	A549	lung
32	chr2:213192000-213193000	Enhancers	Fetal Intestine Large	intestine
33	chr2:213192000-213193000	Enhancers	HepG2	liver
34	chr2:213192200-213193000	Weak transcription	Fetal Lung	lung
35	chr2:213192200-213193000	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr2:213192600-213193800	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr2:213192800-213193200	Enhancers	Fetal Intestine Small	intestine
38	chr2:213192800-213193200	Enhancers	Fetal Stomach	stomach
39	chr2:213193000-213195000	Enhancers	Fetal Lung	lung
40	chr2:213193800-213194600	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr2:213194000-213194600	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr2:213194000-213194800	Enhancers	Brain Anterior Caudate	brain
43	chr2:213194000-213194800	Enhancers	Brain Hippocampus Middle	brain
44	chr2:213194000-213194800	Enhancers	Brain Substantia Nigra	brain
45	chr2:213194200-213195800	Enhancers	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links