Variant report

Variant	nsv960210
Chromosome Location	chr17:66381299-66386674
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:66383531..66384260-chr17:66431940..66432674,2	MCF-7	breast:
2	chr17:66284621..66288166-chr17:66381787..66384144,3	MCF-7	breast:
3	chr17:66386456..66388200-chr17:66391393..66393608,2	MCF-7	breast:
4	chr17:66291335..66294055-chr17:66379108..66382514,3	K562	blood:
5	chr17:66373660..66375997-chr17:66382918..66384615,2	MCF-7	breast:
6	chr17:66377980..66380105-chr17:66382216..66383733,2	K562	blood:
7	chr17:66283450..66289773-chr17:66378313..66385560,13	MCF-7	breast:
8	chr17:66377922..66382043-chr17:66382390..66387412,6	MCF-7	breast:
9	chr17:66377922..66382043-chr17:66382390..66387412,6	MCF-7	breast:
10	chr17:66286590..66289281-chr17:66385656..66387350,2	MCF-7	breast:
11	chr17:66383780..66385564-chr17:66427037..66429492,2	MCF-7	breast:
12	chr17:66384093..66384637-chr17:66394827..66395339,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000108932	chromatin interactions
ENSG00000141337	chromatin interactions

Extended variants
information (count: 210 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:210 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534865876	chr17:66381313-66381314	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs552884334	chr17:66381316-66381317	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs78469606	chr17:66381336-66381337	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs190250674	chr17:66381351-66381352	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs556200141	chr17:66381353-66381354	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs530735736	chr17:66381365-66381366	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs114213345	chr17:66381385-66381386	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs575269324	chr17:66381393-66381394	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs377482914	chr17:66381401-66381402	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs3744302	chr17:66381403-66381404	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs573447173	chr17:66381449-66381450	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs540828932	chr17:66381460-66381461	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs546155197	chr17:66381470-66381471	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs182323400	chr17:66381529-66381530	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs372455412	chr17:66381541-66381542	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs529821208	chr17:66381594-66381595	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs148043599	chr17:66381598-66381599	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs184866308	chr17:66381649-66381650	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs71387395	chr17:66381657-66381658	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs530550531	chr17:66381683-66381684	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs559521429	chr17:66381860-66381861	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs111860402	chr17:66381865-66381866	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs552201158	chr17:66381942-66381943	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs564446609	chr17:66381981-66381982	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs528334309	chr17:66382081-66382082	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs141679365	chr17:66382143-66382144	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs11655081	chr17:66382209-66382210	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	disease
28	rs535622357	chr17:66382219-66382220	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs550688723	chr17:66382220-66382221	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs569006415	chr17:66382252-66382253	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs539487115	chr17:66382275-66382276	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs557687899	chr17:66382279-66382280	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs573481200	chr17:66382285-66382286	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs534195745	chr17:66382400-66382401	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs555945948	chr17:66382450-66382451	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs549954350	chr17:66382485-66382486	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs574189544	chr17:66382498-66382499	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs188899066	chr17:66382507-66382508	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs544800107	chr17:66382509-66382510	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs150549010	chr17:66382539-66382540	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs575402399	chr17:66382570-66382571	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs139869472	chr17:66382576-66382577	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs34021702	chr17:66382629-66382630	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs75716431	chr17:66382647-66382648	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs561018147	chr17:66382648-66382649	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs528409195	chr17:66382675-66382676	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs546612103	chr17:66382678-66382679	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs561993305	chr17:66382722-66382723	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs374307641	chr17:66382723-66382724	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs529098572	chr17:66382781-66382782	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
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
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
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	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
Ewing''s sarcoma	22429812	CNVD
Prostate cancer	18632612	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21509527	CNVD
Chordoma	18071362	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	21523713	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21858162	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
Cancer	21129771	CNVD
Congenital generalized hypertrichosis terminalis	19463983	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
XY gonadal dysgenesis	20685758	CNVD
Gingival hyperplasia	19463983	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Neuroblastoma	20406844	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16417655	CNVD
Breast cancer	21045282	CNVD
Epilepsy	22083797	CNVD
Sezary syndrome	18413736	CNVD
Honadal dysgenesis	21408189	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:157 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66354200-66390200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr17:66369000-66390800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr17:66374400-66385800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr17:66374600-66381400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr17:66374800-66381400	Enhancers	Adipose Nuclei	Adipose
6	chr17:66374800-66384800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr17:66374800-66391000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr17:66374800-66391000	Weak transcription	Esophagus	oesophagus
9	chr17:66375000-66381800	Enhancers	NHLF	lung
10	chr17:66375200-66382600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr17:66375400-66382000	Weak transcription	Brain Anterior Caudate	brain
12	chr17:66375400-66382800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr17:66375400-66385400	Weak transcription	Stomach Mucosa	stomach
14	chr17:66378800-66381400	Enhancers	Fetal Thymus	thymus
15	chr17:66378800-66389800	Enhancers	Liver	Liver
16	chr17:66379000-66381400	Enhancers	Primary T cells fromperipheralblood	blood
17	chr17:66379000-66381400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr17:66379000-66381400	Enhancers	Fetal Lung	lung
19	chr17:66379000-66383600	Enhancers	Fetal Muscle Leg	muscle
20	chr17:66379200-66381400	Enhancers	HSMM	muscle
21	chr17:66379200-66381600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr17:66379200-66385800	Enhancers	Placenta	Placenta
23	chr17:66379400-66381400	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr17:66379400-66381600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr17:66379400-66382600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr17:66379800-66381800	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr17:66380000-66382000	Weak transcription	Fetal Intestine Small	intestine
28	chr17:66380200-66382200	Weak transcription	Fetal Brain Male	brain
29	chr17:66380400-66381400	Enhancers	HUVEC	blood vessel
30	chr17:66380400-66381800	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr17:66380400-66382000	Weak transcription	Ovary	ovary
32	chr17:66380400-66382200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr17:66380400-66382400	Weak transcription	Rectal Smooth Muscle	rectum
34	chr17:66380400-66382800	Weak transcription	HSMMtube	muscle
35	chr17:66380400-66383200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr17:66380400-66390200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr17:66380400-66390400	Weak transcription	Thymus	Thymus
38	chr17:66380400-66391000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr17:66380600-66381400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr17:66380600-66381400	Enhancers	Dnd41	blood
41	chr17:66380600-66381400	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr17:66380600-66381400	Enhancers	NH-A	brain
43	chr17:66380600-66381600	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr17:66380600-66382400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr17:66380600-66383800	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr17:66380600-66385400	Enhancers	Hela-S3	cervix
47	chr17:66380800-66381400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr17:66380800-66387200	Enhancers	HepG2	liver
49	chr17:66380800-66393000	Weak transcription	Primary T cells from cord blood	blood
50	chr17:66381000-66381400	Enhancers	NHDF-Ad	bronchial

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