Variant report

Variant	esv3396226
Chromosome Location	chr17:59863370-59865868
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:59860602..59863477-chr17:59913344..59915633,3	MCF-7	breast:
2	chr17:59786284..59788670-chr17:59864199..59866919,2	MCF-7	breast:
3	chr17:59864218..59867206-chr17:59938344..59939974,2	MCF-7	breast:
4	chr17:59526831..59528449-chr17:59861163..59863891,2	MCF-7	breast:
5	chr17:59862782..59863461-chr3:64008914..64009596,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136492	chromatin interactions
ENSG00000163636	chromatin interactions

Extended variants
information (count: 58 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368088878	chr17:59863413-59863414	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs374452596	chr17:59863421-59863422	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs191724353	chr17:59863549-59863550	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139960292	chr17:59863559-59863560	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183938539	chr17:59863571-59863572	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556365346	chr17:59863586-59863587	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs200407840	chr17:59863590-59863591	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79790073	chr17:59863606-59863607	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546519056	chr17:59863607-59863608	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566416717	chr17:59863714-59863715	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538499037	chr17:59863835-59863836	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558716719	chr17:59863907-59863908	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs11657480	chr17:59864003-59864004	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs538344003	chr17:59864037-59864038	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188270940	chr17:59864118-59864119	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111920522	chr17:59864141-59864142	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113782039	chr17:59864170-59864171	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555063133	chr17:59864187-59864188	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574906244	chr17:59864256-59864257	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs540608861	chr17:59864257-59864258	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs67254911	chr17:59864292-59864293	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs398031266	chr17:59864296-59864297	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs201940823	chr17:59864336-59864337	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs554538623	chr17:59864382-59864383	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs111210731	chr17:59864499-59864500	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs558853757	chr17:59864668-59864669	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs200116143	chr17:59864733-59864734	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs185584266	chr17:59864739-59864740	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs202187809	chr17:59864751-59864752	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs368061714	chr17:59864754-59864755	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs71150702	chr17:59864758-59864759	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs12943125	chr17:59864804-59864805	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs546126261	chr17:59864818-59864819	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs7215102	chr17:59864883-59864884	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs550293266	chr17:59865067-59865068	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs531777350	chr17:59865072-59865073	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs543925772	chr17:59865079-59865080	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs367945884	chr17:59865103-59865104	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs560628426	chr17:59865142-59865143	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs529677568	chr17:59865184-59865185	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs546180760	chr17:59865191-59865192	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs566703824	chr17:59865256-59865257	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs371593181	chr17:59865274-59865275	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs571719652	chr17:59865298-59865299	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs190490535	chr17:59865300-59865301	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs539241908	chr17:59865412-59865413	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs376150918	chr17:59865413-59865414	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs554035814	chr17:59865445-59865446	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs367582391	chr17:59865476-59865477	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs79745691	chr17:59865491-59865492	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	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
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
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	21467264	CNVD
Ovarian neoplasms	16753589	CNVD
Myxofibrosarcoma	16751306	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
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	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

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:59816800-59887800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr17:59820400-59877200	Weak transcription	NH-A	brain
3	chr17:59825800-59898400	Weak transcription	Thymus	Thymus
4	chr17:59844000-59882600	Weak transcription	NHLF	lung
5	chr17:59844600-59882600	Weak transcription	HMEC	breast
6	chr17:59847600-59883400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr17:59847800-59876200	Weak transcription	Osteobl	bone
8	chr17:59848400-59873600	Weak transcription	K562	blood
9	chr17:59848600-59874000	Weak transcription	Hela-S3	cervix
10	chr17:59848600-59875600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr17:59848800-59872600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr17:59848800-59882600	Weak transcription	NHEK	skin
13	chr17:59848800-59911200	Weak transcription	HUVEC	blood vessel
14	chr17:59849000-59869400	Weak transcription	HepG2	liver
15	chr17:59849400-59871600	Weak transcription	HSMM	muscle
16	chr17:59849400-59872200	Weak transcription	Fetal Thymus	thymus
17	chr17:59849400-59887200	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr17:59849800-59887200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr17:59850000-59865000	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr17:59850000-59866000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr17:59850000-59869400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr17:59850000-59870800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr17:59850000-59871000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr17:59850000-59872200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr17:59850000-59873200	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr17:59850000-59887000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr17:59850000-59887000	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr17:59851200-59902600	Weak transcription	Fetal Stomach	stomach
29	chr17:59852600-59869400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr17:59852600-59898000	Weak transcription	Fetal Intestine Small	intestine
31	chr17:59853800-59869400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr17:59854000-59866000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr17:59854000-59868600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr17:59854000-59873000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr17:59856400-59872800	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr17:59856800-59868000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr17:59857000-59888600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr17:59857400-59866000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr17:59857800-59868200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr17:59858000-59872800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr17:59858200-59866200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr17:59858200-59869400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr17:59860000-59863600	Strong transcription	Dnd41	blood
44	chr17:59860200-59883200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr17:59860800-59868000	Weak transcription	A549	lung
46	chr17:59862000-59864000	Enhancers	Primary B cells from cord blood	blood
47	chr17:59862000-59869200	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr17:59862000-59887200	Weak transcription	Fetal Kidney	kidney
49	chr17:59862600-59863800	Enhancers	GM12878-XiMat	blood
50	chr17:59863000-59863800	Enhancers	Primary B cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links