Variant report

Variant	esv2489612
Chromosome Location	chr17:59823944-59825509
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81478704..81480566-chr17:59823616..59825602,2	MCF-7	breast:
2	chr17:59823092..59824052-chr7:130478731..130479440,2	MCF-7	breast:
3	chr17:59757651..59759425-chr17:59822569..59825415,2	MCF-7	breast:
4	chr17:59822353..59824545-chr17:59851695..59854638,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153815	chromatin interactions
ENSG00000136492	chromatin interactions

Extended variants
information (count: 52 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563509532	chr17:59823945-59823946	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs76039162	chr17:59823948-59823949	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs56807447	chr17:59823949-59823950	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs398079089	chr17:59823956-59823957	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs398031264	chr17:59823957-59823958	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs78475207	chr17:59823959-59823960	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs375162000	chr17:59824022-59824023	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs146266654	chr17:59824103-59824104	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs542939144	chr17:59824129-59824130	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs559576042	chr17:59824156-59824157	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs528664561	chr17:59824157-59824158	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs34770189	chr17:59824163-59824164	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs34502902	chr17:59824169-59824170	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs148491478	chr17:59824179-59824180	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs570226887	chr17:59824199-59824200	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs188901149	chr17:59824249-59824250	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs549777254	chr17:59824357-59824358	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs181351063	chr17:59824449-59824450	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs186383376	chr17:59824555-59824556	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs555709842	chr17:59824611-59824612	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs544992493	chr17:59824662-59824663	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs530331837	chr17:59824663-59824664	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs189709094	chr17:59824700-59824701	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs180960722	chr17:59824736-59824737	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs141612583	chr17:59824752-59824753	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs540481525	chr17:59824782-59824783	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs186005965	chr17:59824830-59824831	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs9909664	chr17:59824831-59824832	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs540774734	chr17:59824835-59824836	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs191178151	chr17:59824848-59824849	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs181906725	chr17:59825007-59825008	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs559642363	chr17:59825034-59825035	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs150509580	chr17:59825035-59825036	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs545230320	chr17:59825094-59825095	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs565116008	chr17:59825121-59825122	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs112336457	chr17:59825131-59825132	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs113945137	chr17:59825172-59825173	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs112200562	chr17:59825198-59825199	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs111260658	chr17:59825201-59825202	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs533096581	chr17:59825209-59825210	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs549602262	chr17:59825248-59825249	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs79627537	chr17:59825262-59825263	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs35956751	chr17:59825263-59825264	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs561838452	chr17:59825264-59825265	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs75312284	chr17:59825277-59825278	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs71150636	chr17:59825279-59825280	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs139493186	chr17:59825338-59825339	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs528887164	chr17:59825393-59825394	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs186283880	chr17:59825491-59825492	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs190639775	chr17:59825495-59825496	ZNF genes & repeats 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:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:59781600-59835400	Weak transcription	Hela-S3	cervix
2	chr17:59794400-59848200	Weak transcription	HUVEC	blood vessel
3	chr17:59804200-59847400	Weak transcription	K562	blood
4	chr17:59804600-59834200	Weak transcription	Osteobl	bone
5	chr17:59806200-59825600	Weak transcription	Thymus	Thymus
6	chr17:59807600-59838400	Weak transcription	Fetal Stomach	stomach
7	chr17:59811600-59825200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr17:59814000-59849000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr17:59815000-59824000	Weak transcription	Fetal Heart	heart
10	chr17:59815000-59839200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr17:59815600-59828200	Weak transcription	NHLF	lung
12	chr17:59815600-59836000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr17:59815600-59844200	Weak transcription	HMEC	breast
14	chr17:59815800-59834400	Weak transcription	HSMM	muscle
15	chr17:59815800-59843400	Weak transcription	NHEK	skin
16	chr17:59816800-59887800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr17:59819000-59842600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr17:59819400-59843600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr17:59819400-59848200	Weak transcription	Primary B cells from cord blood	blood
20	chr17:59820000-59824400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr17:59820000-59839200	Weak transcription	Fetal Muscle Leg	muscle
22	chr17:59820000-59841400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr17:59820000-59841400	Weak transcription	Ovary	ovary
24	chr17:59820000-59846600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr17:59820200-59825200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr17:59820200-59825400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr17:59820200-59825400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr17:59820400-59824000	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr17:59820400-59825000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr17:59820400-59825200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr17:59820400-59835400	Weak transcription	Fetal Intestine Large	intestine
32	chr17:59820400-59840200	Weak transcription	Fetal Thymus	thymus
33	chr17:59820400-59877200	Weak transcription	NH-A	brain
34	chr17:59821200-59824000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr17:59821400-59831600	Weak transcription	HepG2	liver
36	chr17:59821400-59834200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr17:59822800-59824000	Weak transcription	A549	lung
38	chr17:59822800-59825000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr17:59823000-59824000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr17:59823000-59824000	Weak transcription	Fetal Lung	lung
41	chr17:59823000-59824000	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr17:59823000-59824200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr17:59823000-59827000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr17:59823200-59825200	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr17:59823400-59824600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
46	chr17:59823400-59827600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr17:59823600-59824400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
48	chr17:59823600-59824800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr17:59823600-59826000	ZNF genes & repeats	Dnd41	blood
50	chr17:59823800-59824600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell

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