Variant report

Variant	esv1009898
Chromosome Location	chr17:63135734-63146723
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:63052990..63054658-chr17:63138480..63140509,2	MCF-7	breast:
2	chr17:63136097..63138454-chr17:63145517..63148046,2	MCF-7	breast:
3	chr17:63118180..63120379-chr17:63138460..63140911,3	MCF-7	breast:
4	chr17:63130431..63132814-chr17:63134933..63137280,2	K562	blood:
5	chr17:63133396..63138666-chr17:63139121..63145017,6	MCF-7	breast:
6	chr17:63134560..63136303-chr17:63148966..63151804,2	MCF-7	breast:
7	chr17:63137155..63140141-chr17:63151319..63152963,2	MCF-7	breast:
8	chr17:63136097..63138454-chr17:63145517..63148046,2	MCF-7	breast:
9	chr17:63132106..63136332-chr17:63137645..63139954,3	MCF-7	breast:
10	chr17:63069108..63070683-chr17:63135799..63137763,2	MCF-7	breast:
11	chr17:63117889..63120887-chr17:63144486..63147111,3	MCF-7	breast:
12	chr17:63144698..63147268-chr17:63155004..63157714,2	K562	blood:
13	chr17:63137944..63140739-chr17:63146348..63148204,2	MCF-7	breast:
14	chr17:63056499..63058774-chr17:63134667..63136263,2	MCF-7	breast:
15	chr17:63128770..63130452-chr17:63143108..63145459,2	MCF-7	breast:
16	chr17:63137944..63140739-chr17:63146348..63148204,2	MCF-7	breast:
17	chr17:63132119..63134997-chr17:63136945..63138623,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000108370	chromatin interactions

Extended variants
information (count: 450 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:450 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531062602	chr17:63135739-63135740	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs191609772	chr17:63135749-63135750	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs149271338	chr17:63135890-63135891	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs530033690	chr17:63135908-63135909	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs114374906	chr17:63135974-63135975	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs375674755	chr17:63135981-63135982	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs545817632	chr17:63136036-63136037	Bivalent Enhancer Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs567004753	chr17:63136037-63136038	Bivalent Enhancer Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs539242579	chr17:63136068-63136069	Bivalent Enhancer Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs558692890	chr17:63136090-63136091	Bivalent Enhancer Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs569091773	chr17:63136108-63136109	Bivalent Enhancer Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs537574245	chr17:63136109-63136110	Bivalent Enhancer Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs421100	chr17:63136134-63136135	Bivalent Enhancer Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs409583	chr17:63136141-63136142	Bivalent Enhancer Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs539800206	chr17:63136146-63136147	Bivalent Enhancer Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs181242267	chr17:63136159-63136160	Bivalent Enhancer Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs577031863	chr17:63136161-63136162	Bivalent Enhancer Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs77735390	chr17:63136206-63136207	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs546105018	chr17:63136241-63136242	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs79809901	chr17:63136266-63136267	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs531532123	chr17:63136276-63136277	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs114601385	chr17:63136309-63136310	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs187100710	chr17:63136355-63136356	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs376854812	chr17:63136356-63136357	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs147521412	chr17:63136375-63136376	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs546648953	chr17:63136402-63136403	Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs191485605	chr17:63136471-63136472	Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561805590	chr17:63136485-63136486	Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs112958470	chr17:63136486-63136487	Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567168250	chr17:63136487-63136488	Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs532726027	chr17:63136496-63136497	Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529101491	chr17:63136522-63136523	Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs140069410	chr17:63136526-63136527	Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569153243	chr17:63136558-63136559	Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183460793	chr17:63136600-63136601	Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs554144627	chr17:63136609-63136610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs547885669	chr17:63136639-63136640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568036409	chr17:63136643-63136644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs533802109	chr17:63136652-63136653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553524853	chr17:63136696-63136697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs576750519	chr17:63136707-63136708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs525978	chr17:63136717-63136718	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs556489565	chr17:63136725-63136726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs145689742	chr17:63136731-63136732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs147331321	chr17:63136791-63136792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs561454966	chr17:63136866-63136867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs574804023	chr17:63136870-63136871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs35859117	chr17:63136875-63136876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs2013738	chr17:63136893-63136894	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs141363136	chr17:63136906-63136907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
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
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
Breast cancer	16620391	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
Cancer	21129771	CNVD
Breast cancer	16417655	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Congenital generalized hypertrichosis terminalis	19463983	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:173 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:63133000-63136200	Active TSS	Brain Anterior Caudate	brain
2	chr17:63133800-63135800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr17:63134000-63135800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr17:63134000-63136000	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr17:63134000-63136000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr17:63134000-63136200	Enhancers	Fetal Thymus	thymus
7	chr17:63134000-63136400	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr17:63134000-63140600	Weak transcription	Right Atrium	heart
9	chr17:63134200-63136200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr17:63134400-63136200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr17:63134400-63140000	Weak transcription	Brain Substantia Nigra	brain
12	chr17:63134400-63143000	Weak transcription	Spleen	Spleen
13	chr17:63134400-63143200	Weak transcription	Esophagus	oesophagus
14	chr17:63134400-63169000	Weak transcription	Colon Smooth Muscle	Colon
15	chr17:63134600-63140600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr17:63134800-63136000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr17:63134800-63136400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr17:63135000-63135800	Enhancers	H9 Cell Line	embryonic stem cell
19	chr17:63135000-63135800	Enhancers	Thymus	Thymus
20	chr17:63135000-63136600	Enhancers	Lung	lung
21	chr17:63135000-63137200	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr17:63135200-63136000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr17:63135200-63136200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr17:63135400-63135800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr17:63135400-63135800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr17:63135400-63135800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
27	chr17:63135400-63135800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
28	chr17:63135400-63135800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr17:63135400-63135800	Flanking Active TSS	GM12878-XiMat	blood
30	chr17:63135400-63136000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
31	chr17:63135400-63136000	Enhancers	Primary hematopoietic stem cells	blood
32	chr17:63135400-63136000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr17:63135400-63136000	Flanking Active TSS	Dnd41	blood
34	chr17:63135400-63136000	Bivalent Enhancer	HepG2	liver
35	chr17:63135400-63136200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
36	chr17:63135400-63136400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr17:63135600-63135800	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
38	chr17:63135600-63135800	Enhancers	H1 Cell Line	embryonic stem cell
39	chr17:63135600-63135800	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr17:63135600-63135800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
41	chr17:63135600-63135800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
42	chr17:63135600-63136000	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr17:63135600-63136000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr17:63135600-63136600	Enhancers	Fetal Kidney	kidney
45	chr17:63135600-63139200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr17:63135800-63136000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
47	chr17:63135800-63136000	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr17:63135800-63136000	Enhancers	GM12878-XiMat	blood
49	chr17:63135800-63136200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
50	chr17:63135800-63146800	Weak transcription	Thymus	Thymus

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