Variant report

Variant	nsv908612
Chromosome Location	chr17:50506926-50720233
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:3)
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	chr17:50675490..50676246-chr5:85861973..85862474,2	MCF-7	breast:
2	chr17:50636033..50636551-chr18:41415783..41416345,2	MCF-7	breast:
3	chr1:121484725..121485412-chr17:50577787..50578626,2	MCF-7	breast:
4	chr17:50460518..50461546-chr17:50547645..50548624,5	MCF-7	breast:
5	chr17:50674880..50675413-chr17:52249846..52250473,2	MCF-7	breast:
6	chr17:50714004..50716976-chr17:50721269..50723262,2	MCF-7	breast:
7	chr17:50570903..50573840-chr17:50575722..50577481,2	MCF-7	breast:
8	chr17:50674625..50675217-chr17:51227188..51227968,2	MCF-7	breast:
9	chr17:50570903..50573840-chr17:50575722..50577481,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC102948.1.1-3	chr17:50612093-50612184	ENSG00000263317.1
2	lnc-AC102948.1.1-3	chr17:50609892-50609954	ENSG00000263317.1
3	lnc-AC102948.1.1-3	chr17:50612985-50613061	ENSG00000263317.1

No data

Extended variants
information (count: 1205 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:1205 , 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	rs558220474	chr17:50513842-50513843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs182282401	chr17:50513900-50513901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540555437	chr17:50513931-50513932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555861931	chr17:50513978-50513979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554532576	chr17:50513979-50513980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs149429486	chr17:50513991-50513992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73989333	chr17:50514014-50514015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs74602178	chr17:50514040-50514041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542013678	chr17:50514041-50514042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12451083	chr17:50514060-50514061	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs545528197	chr17:50514087-50514088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188028164	chr17:50514103-50514104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs192639881	chr17:50514123-50514124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547270687	chr17:50514127-50514128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs11080005	chr17:50514129-50514130	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs529954210	chr17:50514132-50514133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs143832062	chr17:50514179-50514180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184779416	chr17:50514312-50514313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536066239	chr17:50514372-50514373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs377434708	chr17:50514373-50514374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569836981	chr17:50514389-50514390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs12603785	chr17:50514416-50514417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs7224481	chr17:50514419-50514420	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs368142903	chr17:50514491-50514492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552282853	chr17:50514510-50514511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs199637774	chr17:50514537-50514538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs149996876	chr17:50514539-50514540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576826268	chr17:50514543-50514544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs28601617	chr17:50514572-50514573	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs148188852	chr17:50514577-50514578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs118118175	chr17:50514592-50514593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs539929479	chr17:50514600-50514601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs370493525	chr17:50514679-50514680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs536946611	chr17:50514693-50514694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs141134052	chr17:50514736-50514737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs188047116	chr17:50514797-50514798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs79390989	chr17:50514822-50514823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs191922338	chr17:50514906-50514907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs184354694	chr17:50514954-50514955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs72841032	chr17:50514959-50514960	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs192674907	chr17:50515007-50515008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs146190344	chr17:50515022-50515023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs112617745	chr17:50515046-50515047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs529891350	chr17:50515068-50515069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs183583068	chr17:50515084-50515085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs563322364	chr17:50515136-50515137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs139151086	chr17:50515144-50515145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs533492944	chr17:50515164-50515165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs34783187	chr17:50515166-50515167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs552107907	chr17:50515178-50515179	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Melanoma	18172304	CNVD
Moyamoya disease	22323933	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ovarian cancer	21781307	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Chordoma	21602918	CNVD
Neurofibromatosis	20686819	CNVD
Peripheral nerve sheath tumors	20686819	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	17897457	CNVD
Neuroblastoma	17327916	CNVD
Breast cancer	21264507	CNVD
Endometrial cancer	22040021	CNVD
Neuroblastoma	21484798	CNVD
Breast cancer	22028636	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute myeloid leukemia	20724749	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Gastric cancer	17167181	CNVD
Breast cancer	19287154	CNVD
Leukemia	20874852	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	17533364	CNVD
Human rectal carcinomas	16397240	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	20953835	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Neuroblastoma	18923191	CNVD
Bladder cancer	21909424	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
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	21251322	CNVD
Ewing''s sarcoma	22429812	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Chordoma	18071362	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Myeloproliferative neoplasm	20015882	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	21523713	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:50513800-50514400	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr17:50513800-50514800	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr17:50513800-50514800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr17:50514000-50515200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr17:50514400-50514800	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr17:50522600-50523000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr17:50523000-50525400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr17:50525400-50526000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr17:50525600-50526000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr17:50525600-50526000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr17:50525600-50526200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr17:50526000-50527400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr17:50526000-50528400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr17:50526000-50528600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr17:50526200-50527600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr17:50526400-50528600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr17:50527400-50527600	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr17:50527400-50527600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr17:50527400-50527600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
20	chr17:50527600-50527800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr17:50527600-50528400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr17:50527800-50528200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr17:50528200-50529600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr17:50528400-50528800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr17:50528400-50529400	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr17:50528400-50529600	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr17:50528400-50529600	Enhancers	Brain Germinal Matrix	brain
28	chr17:50528400-50531600	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr17:50528600-50529000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr17:50528600-50529200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr17:50528600-50529400	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr17:50528600-50529600	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr17:50528800-50529200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr17:50528800-50529400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
35	chr17:50529200-50529600	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr17:50553000-50553400	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr17:50553200-50553400	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr17:50553400-50554000	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr17:50553800-50554000	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr17:50554000-50554400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
41	chr17:50554000-50554800	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr17:50554400-50555600	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr17:50577200-50577800	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr17:50577800-50582400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr17:50582400-50583400	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr17:50582600-50583000	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr17:50582600-50583400	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr17:50596000-50596200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr17:50609600-50609800	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr17:50609600-50610200	Enhancers	Skeletal Muscle Male	skeletal muscle

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