Variant report

Variant	esv3341476
Chromosome Location	chr17:63168490-63172688
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:63160128..63162121-chr17:63168023..63170188,2	K562	blood:
2	chr17:62971936..62973438-chr17:63168218..63170774,2	K562	blood:
3	chr17:63166945..63171394-chr17:63172281..63178092,5	K562	blood:
4	chr17:63169981..63172249-chr17:63179988..63182257,2	K562	blood:
5	chr17:63170124..63172444-chr17:63186686..63188784,3	MCF-7	breast:
6	chr17:63167995..63174174-chr17:63174484..63177820,5	MCF-7	breast:
7	chr17:63106384..63108282-chr17:63168759..63171102,2	K562	blood:
8	chr17:63158962..63160565-chr17:63168020..63170468,3	K562	blood:
9	chr17:63169209..63171609-chr17:63173762..63176573,2	MCF-7	breast:
10	chr17:63168106..63170143-chr17:63186322..63188015,2	MCF-7	breast:
11	chr17:63166945..63171394-chr17:63172281..63178092,5	K562	blood:
12	chr17:63051300..63053869-chr17:63168006..63170478,2	K562	blood:
13	chr17:63149027..63151275-chr17:63171482..63172994,2	K562	blood:
14	chr17:63117456..63119485-chr17:63168977..63171094,3	K562	blood:
15	chr17:63163123..63166330-chr17:63166704..63169557,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000265883	chromatin interactions
ENSG00000120063	chromatin interactions

Extended variants
information (count: 180 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:180 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368083715	chr17:63168510-63168511	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs146820809	chr17:63168513-63168514	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs573709962	chr17:63168521-63168522	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs190547291	chr17:63168543-63168544	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs80176171	chr17:63168557-63168558	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs368089332	chr17:63168587-63168588	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs9909092	chr17:63168590-63168591	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs139578540	chr17:63168604-63168605	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs564463266	chr17:63168610-63168611	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs375089680	chr17:63168724-63168725	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs543996052	chr17:63168761-63168762	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs78727351	chr17:63168898-63168899	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs372952313	chr17:63168899-63168900	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs79131455	chr17:63168903-63168904	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs529433047	chr17:63168910-63168911	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs568738379	chr17:63168962-63168963	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs115304361	chr17:63168990-63168991	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs577726268	chr17:63169029-63169030	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs529602514	chr17:63169032-63169033	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs528170961	chr17:63169046-63169047	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs543976250	chr17:63169048-63169049	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs571117882	chr17:63169049-63169050	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs143377785	chr17:63169063-63169064	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs367625190	chr17:63169080-63169081	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs188372294	chr17:63169093-63169094	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs536476583	chr17:63169098-63169099	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs569022598	chr17:63169099-63169100	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs553199703	chr17:63169101-63169102	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs146724989	chr17:63169150-63169151	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs535077444	chr17:63169151-63169152	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs114521910	chr17:63169191-63169192	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs577929815	chr17:63169228-63169229	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs544112093	chr17:63169261-63169262	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs557404662	chr17:63169279-63169280	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs140411671	chr17:63169286-63169287	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs542860530	chr17:63169289-63169290	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs372868430	chr17:63169324-63169325	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs149951970	chr17:63169329-63169330	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs528183994	chr17:63169360-63169361	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs377260645	chr17:63169485-63169486	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs564919306	chr17:63169499-63169500	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs530454914	chr17:63169503-63169504	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs550525862	chr17:63169511-63169512	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs567494273	chr17:63169531-63169532	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs192480799	chr17:63169543-63169544	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs539142612	chr17:63169568-63169569	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs546825639	chr17:63169594-63169595	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs73347616	chr17:63169619-63169620	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs369815757	chr17:63169638-63169639	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs117299101	chr17:63169650-63169651	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	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:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:63134400-63169000	Weak transcription	Colon Smooth Muscle	Colon
2	chr17:63141000-63175200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr17:63143600-63169400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr17:63153600-63175400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr17:63157000-63179800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr17:63157200-63169600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr17:63160000-63180400	Weak transcription	Brain Substantia Nigra	brain
8	chr17:63160400-63168800	Weak transcription	A549	lung
9	chr17:63160600-63169200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr17:63160600-63169600	Weak transcription	Spleen	Spleen
11	chr17:63160800-63169400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr17:63160800-63169400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr17:63166600-63170000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr17:63166600-63170000	Enhancers	HUVEC	blood vessel
15	chr17:63166600-63170600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr17:63166600-63170600	Enhancers	Fetal Thymus	thymus
17	chr17:63166800-63169400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr17:63167000-63172600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr17:63167200-63169200	Enhancers	K562	blood
20	chr17:63167200-63170800	Enhancers	Primary hematopoietic stem cells	blood
21	chr17:63167400-63168800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr17:63167400-63168800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr17:63167400-63175200	Weak transcription	Brain Germinal Matrix	brain
24	chr17:63167600-63169200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr17:63167600-63169400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr17:63167600-63169400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr17:63167600-63169400	Weak transcription	Brain Anterior Caudate	brain
28	chr17:63167600-63169400	Weak transcription	Left Ventricle	heart
29	chr17:63167600-63169600	Weak transcription	Fetal Stomach	stomach
30	chr17:63167600-63170800	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr17:63167600-63171400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr17:63167600-63172800	Enhancers	Primary T cells fromperipheralblood	blood
33	chr17:63167600-63175000	Weak transcription	Brain Angular Gyrus	brain
34	chr17:63167800-63168600	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr17:63167800-63168600	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr17:63167800-63169400	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr17:63167800-63169400	Weak transcription	Right Atrium	heart
38	chr17:63167800-63169800	Enhancers	Primary T cells from cord blood	blood
39	chr17:63167800-63170200	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr17:63167800-63171400	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr17:63167800-63172800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr17:63167800-63175000	Weak transcription	Fetal Brain Female	brain
43	chr17:63168000-63168600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr17:63168000-63169600	Weak transcription	Fetal Lung	lung
45	chr17:63168000-63170600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr17:63168000-63171200	Weak transcription	Fetal Brain Male	brain
47	chr17:63168200-63169200	Weak transcription	Thymus	Thymus
48	chr17:63168200-63169400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr17:63168200-63169400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr17:63168200-63169400	Enhancers	Dnd41	blood

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