Variant report

Variant	esv3353314
Chromosome Location	chr17:60092370-60094318
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:60092376-60092400	GM12878	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:60090504..60092399-chr17:60094678..60097577,2	MCF-7	breast:
2	chr17:60094067..60094817-chr20:45769645..45770341,2	MCF-7	breast:
3	chr17:60094263..60095108-chr20:54157568..54158219,2	MCF-7	breast:
4	chr17:60093422..60097278-chr17:60186745..60191637,29	MCF-7	breast:
5	chr17:60094004..60095670-chr20:54158803..54160304,7	MCF-7	breast:
6	chr16:28833615..28834438-chr17:60094056..60094994,2	MCF-7	breast:
7	chr17:60094034..60095427-chr20:54158893..54160051,10	MCF-7	breast:
8	chr17:60093994..60095685-chr20:54158785..54160774,22	MCF-7	breast:
9	chr17:60093997..60095651-chr20:54158793..54160830,19	MCF-7	breast:
10	chr17:60094021..60095602-chr20:54158807..54160279,10	MCF-7	breast:
11	chr17:60094212..60095081-chr20:54157800..54158453,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000221302	TF binding region
ENSG00000168488	chromatin interactions

Extended variants
information (count: 96 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540078264	chr17:60092381-60092382	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs9913453	chr17:60092386-60092387	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552371048	chr17:60092412-60092413	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376589457	chr17:60092413-60092414	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568739509	chr17:60092414-60092415	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537736754	chr17:60092453-60092454	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554486500	chr17:60092468-60092469	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs180776275	chr17:60092524-60092525	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533787997	chr17:60092530-60092531	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185177113	chr17:60092576-60092577	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576884945	chr17:60092584-60092585	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189981168	chr17:60092602-60092603	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181409756	chr17:60092607-60092608	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576743765	chr17:60092608-60092609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542530336	chr17:60092622-60092623	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200204314	chr17:60092625-60092626	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562414499	chr17:60092632-60092633	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553299435	chr17:60092638-60092639	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs527647186	chr17:60092662-60092663	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547787205	chr17:60092695-60092696	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146321792	chr17:60092758-60092759	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530200010	chr17:60092801-60092802	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533443742	chr17:60092806-60092807	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376176006	chr17:60092809-60092810	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540788782	chr17:60092816-60092817	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148109136	chr17:60092819-60092820	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186561272	chr17:60092861-60092862	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73336410	chr17:60092865-60092866	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs568021524	chr17:60092989-60092990	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549676140	chr17:60092995-60092996	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371381703	chr17:60093007-60093008	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533517369	chr17:60093060-60093061	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183605265	chr17:60093069-60093070	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571477171	chr17:60093080-60093081	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs202206950	chr17:60093137-60093138	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576788779	chr17:60093145-60093146	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs141905434	chr17:60093147-60093148	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551902961	chr17:60093158-60093159	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200294393	chr17:60093180-60093181	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200942937	chr17:60093186-60093187	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368862220	chr17:60093187-60093188	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs78421199	chr17:60093194-60093195	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201374391	chr17:60093195-60093196	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531446145	chr17:60093196-60093197	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576706735	chr17:60093197-60093198	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542444239	chr17:60093204-60093205	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556063416	chr17:60093205-60093206	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373595764	chr17:60093227-60093228	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534114735	chr17:60093239-60093240	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs117833405	chr17:60093249-60093250	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
Basal cell lymphoma	17053054	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
Acute myeloid leukemia	21251322	CNVD
Ewing''s sarcoma	22429812	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21858162	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
XY sex reversal	17503084	CNVD
Sensorineural hearing loss	22052739	CNVD
intellectual deficit	22052739	CNVD
no characteristic dysmorphism	22052739	CNVD
speech delay	22052739	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17899364	CNVD
Multiple myeloma	16616336	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	16620391	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21611746	CNVD
Williams-Beuren syndrome	16971481	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21958427	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
Cancer	21129771	CNVD

Chromatin state (count:179 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:60021200-60097000	Strong transcription	Dnd41	blood
2	chr17:60025400-60107600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr17:60033000-60128400	Weak transcription	Stomach Mucosa	stomach
4	chr17:60042800-60105200	Weak transcription	Psoas Muscle	Psoas
5	chr17:60048800-60097600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr17:60050200-60100800	Weak transcription	Small Intestine	intestine
7	chr17:60060400-60096200	Weak transcription	Fetal Brain Male	brain
8	chr17:60060400-60098800	Weak transcription	Gastric	stomach
9	chr17:60060400-60099800	Weak transcription	Aorta	Aorta
10	chr17:60061600-60099600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr17:60062400-60106800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr17:60069200-60107600	Weak transcription	Spleen	Spleen
13	chr17:60069600-60099000	Weak transcription	Colonic Mucosa	Colon
14	chr17:60072400-60100600	Weak transcription	Right Ventricle	heart
15	chr17:60074600-60123800	Weak transcription	Right Atrium	heart
16	chr17:60075000-60092800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr17:60075800-60114400	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr17:60077200-60136800	Strong transcription	Fetal Thymus	thymus
19	chr17:60077800-60099800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr17:60079800-60094000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr17:60080000-60093200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr17:60080000-60094000	Strong transcription	GM12878-XiMat	blood
23	chr17:60080200-60099000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr17:60081200-60093000	Strong transcription	Placenta	Placenta
25	chr17:60081400-60096400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr17:60081800-60093200	Strong transcription	Duodenum Mucosa	Duodenum
27	chr17:60081800-60111600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr17:60082000-60096200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr17:60082600-60093000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr17:60083400-60098800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr17:60083600-60096400	Weak transcription	Brain Germinal Matrix	brain
32	chr17:60084600-60099000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr17:60085200-60092800	Strong transcription	Fetal Lung	lung
34	chr17:60085800-60092400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr17:60085800-60092800	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr17:60085800-60093000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr17:60086000-60096600	Strong transcription	HepG2	liver
38	chr17:60086200-60092800	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr17:60086200-60097600	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr17:60086400-60092600	Strong transcription	Liver	Liver
41	chr17:60086400-60092800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr17:60086400-60094000	Strong transcription	A549	lung
43	chr17:60086400-60097600	Strong transcription	Primary B cells from peripheral blood	blood
44	chr17:60086600-60092400	Strong transcription	Primary T cells from cord blood	blood
45	chr17:60086600-60092600	Strong transcription	Fetal Intestine Large	intestine
46	chr17:60086600-60094200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr17:60086800-60095200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr17:60087000-60097400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr17:60087000-60102200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr17:60087200-60092400	Strong transcription	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links