Variant report

Variant	esv1002528
Chromosome Location	chr17:46566180-46575960
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:37)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:37 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:46570235..46572365-chr20:55509370..55511788,2	MCF-7	breast:
2	chr17:46568685..46570931-chr17:46575612..46578799,3	MCF-7	breast:
3	chr17:46532115..46533858-chr17:46568103..46570537,2	MCF-7	breast:
4	chr17:46569189..46572269-chr17:46574424..46577287,4	MCF-7	breast:
5	chr17:46553255..46555504-chr17:46567161..46569215,2	K562	blood:
6	chr17:46574929..46577618-chr17:46713950..46715500,2	K562	blood:
7	chr17:46564020..46565955-chr17:46568575..46570721,2	K562	blood:
8	chr17:46573441..46575512-chr17:46598331..46600721,2	MCF-7	breast:
9	chr17:46570087..46572342-chr20:55574944..55576592,2	MCF-7	breast:
10	chr17:46568782..46571366-chr17:46604713..46607657,2	MCF-7	breast:
11	chr17:46575342..46577434-chr17:46588645..46590527,2	K562	blood:
12	chr17:46566753..46569471-chr17:46581683..46584279,2	MCF-7	breast:
13	chr17:46572156..46575042-chr17:46583182..46586038,3	MCF-7	breast:
14	chr17:46569833..46570442-chr17:46695977..46696577,2	K562	blood:
15	chr17:46569189..46572269-chr17:46574424..46577287,4	MCF-7	breast:
16	chr17:46563248..46569374-chr17:46695616..46701359,7	K562	blood:
17	chr17:46569196..46571892-chr17:46596978..46599661,2	K562	blood:
18	chr17:46564497..46566146-chr17:46575665..46577794,2	MCF-7	breast:
19	chr17:46568685..46570931-chr17:46575612..46578799,3	MCF-7	breast:
20	chr17:46569593..46570449-chr20:55548967..55549794,5	MCF-7	breast:
21	chr17:46569538..46570528-chr17:46662492..46663352,3	K562	blood:
22	chr17:46553956..46556675-chr17:46573169..46576403,3	MCF-7	breast:
23	chr17:46572626..46574764-chr17:46662731..46664611,2	MCF-7	breast:
24	chr17:46569552..46570496-chr17:46664083..46664942,2	K562	blood:
25	chr17:46569144..46570490-chr17:46662375..46663400,6	MCF-7	breast:
26	chr17:46575874..46579148-chr17:46581240..46583659,4	MCF-7	breast:
27	chr17:46568691..46570864-chr17:46669281..46671058,2	K562	blood:
28	chr17:46563302..46565269-chr17:46565467..46567003,2	MCF-7	breast:
29	chr17:46569662..46570420-chr17:46671159..46671878,2	MCF-7	breast:
30	chr17:46569554..46570286-chr17:46670636..46671886,3	K562	blood:
31	chr17:46569963..46570488-chr20:55549187..55549743,3	MCF-7	breast:
32	chr17:46574112..46575706-chr17:46580959..46582706,2	MCF-7	breast:
33	chr17:46569342..46572136-chr17:46582152..46585021,2	MCF-7	breast:
34	chr17:46568059..46570366-chr17:46679514..46681666,2	K562	blood:
35	chr17:46574039..46576397-chr17:46577646..46580624,4	MCF-7	breast:
36	chr17:46569639..46570418-chr20:55570361..55571217,3	MCF-7	breast:
37	chr17:46569545..46570868-chr17:46662367..46663838,14	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000233101	chromatin interactions
ENSG00000251772	chromatin interactions
ENSG00000108511	chromatin interactions
ENSG00000120075	chromatin interactions
ENSG00000206805	chromatin interactions

Extended variants
information (count: 368 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:368 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190358354	chr17:46566197-46566198	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs368585232	chr17:46566250-46566251	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs372191293	chr17:46566272-46566273	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs541802446	chr17:46566303-46566304	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs34908283	chr17:46566326-46566327	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs546047127	chr17:46566359-46566360	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs68126082	chr17:46566360-46566361	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs58881365	chr17:46566378-46566379	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs200184684	chr17:46566379-46566380	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs181669270	chr17:46566406-46566407	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs117257700	chr17:46566411-46566412	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs550897505	chr17:46566420-46566421	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs184226733	chr17:46566431-46566432	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs117234355	chr17:46566452-46566453	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs7213146	chr17:46566511-46566512	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs188554177	chr17:46566546-46566547	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs566588849	chr17:46566575-46566576	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs144270404	chr17:46566588-46566589	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs180882457	chr17:46566623-46566624	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs141691433	chr17:46566685-46566686	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs185148440	chr17:46566705-46566706	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs113394139	chr17:46566706-46566707	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs369743740	chr17:46566707-46566708	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs573042067	chr17:46566711-46566712	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs376122050	chr17:46566722-46566723	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs12942280	chr17:46566760-46566761	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs190743846	chr17:46566773-46566774	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs540218835	chr17:46566781-46566782	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs542741587	chr17:46566798-46566799	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs141610387	chr17:46566826-46566827	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs530773139	chr17:46566837-46566838	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs564128449	chr17:46566851-46566852	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs528253217	chr17:46566852-46566853	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs142794262	chr17:46566868-46566869	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs550457262	chr17:46566875-46566876	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs17703636	chr17:46566890-46566891	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs533044464	chr17:46566963-46566964	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs116428261	chr17:46566985-46566986	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs566504367	chr17:46567058-46567059	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs17703660	chr17:46567134-46567135	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs555544736	chr17:46567152-46567153	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs568929995	chr17:46567154-46567155	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs150910375	chr17:46567204-46567205	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs80052868	chr17:46567207-46567208	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs139385669	chr17:46567259-46567260	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs78253379	chr17:46567307-46567308	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs554020654	chr17:46567311-46567312	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs533566099	chr17:46567312-46567313	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs573744945	chr17:46567325-46567326	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs182586892	chr17:46567326-46567327	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell lymphomas	19863542	CNVD
Cancer	16751803	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
Breast cancer	21858162	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
Breast cancer	16608533	CNVD
Breast cancer	17457667	CNVD
Breast cancer	16951389	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22048815	CNVD
Breast cancer	17603634	CNVD
Follicular lymphoma	20505157	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	20953835	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
TAR Syndrome	17847015	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17850661	CNVD
Breast cancer	19261255	CNVD
Lung cancer	16773561	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Basal-like breast cancer	18066063	CNVD
Breast cancer	20031965	CNVD
Colorectal cancer	19287155	CNVD
Hereditary breast	19566914	CNVD
Ovarian cancer	19047089	CNVD
Ovarian cancer	19566914	CNVD
Triple-negative breast cancer	18950515	CNVD
Breast cancer	16846527	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
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Breast cancer	16397240	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Non-syndromic sensorineural hearing loss	21084979	CNVD
Autism	22817714	CNVD
Breast cancer	20409316	CNVD
Cancer	17160897	CNVD
Frontotemporal lobar degeneration	19640594	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:594 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46559200-46566200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr17:46560800-46566400	Enhancers	HMEC	breast
3	chr17:46561200-46566200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr17:46561200-46566200	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr17:46561400-46566600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr17:46561400-46569400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr17:46561400-46569600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr17:46561800-46567400	Weak transcription	Colon Smooth Muscle	Colon
9	chr17:46562000-46567600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr17:46562000-46569800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr17:46562400-46567800	Weak transcription	GM12878-XiMat	blood
12	chr17:46563600-46569200	Enhancers	K562	blood
13	chr17:46564200-46567600	Weak transcription	Adipose Nuclei	Adipose
14	chr17:46564600-46569400	Weak transcription	A549	lung
15	chr17:46564600-46569800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr17:46564600-46569800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr17:46564600-46569800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr17:46564800-46566400	Enhancers	NHEK	skin
19	chr17:46564800-46567600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr17:46564800-46567600	Weak transcription	NHLF	lung
21	chr17:46564800-46569800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr17:46564800-46569800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr17:46564800-46569800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr17:46565000-46567600	Weak transcription	HSMMtube	muscle
25	chr17:46565000-46567800	Weak transcription	NH-A	brain
26	chr17:46565000-46569400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr17:46565000-46569800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr17:46565000-46569800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr17:46565000-46569800	Weak transcription	NHDF-Ad	bronchial
30	chr17:46565200-46566200	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr17:46565400-46566400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr17:46565600-46566200	Enhancers	HSMM	muscle
33	chr17:46565600-46566400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr17:46565600-46569800	Enhancers	Primary hematopoietic stem cells	blood
35	chr17:46565800-46566600	Enhancers	Placenta	Placenta
36	chr17:46565800-46566800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr17:46566000-46566400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr17:46566000-46566400	Enhancers	Primary T cells fromperipheralblood	blood
39	chr17:46566000-46566400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr17:46566000-46566400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr17:46566000-46566400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr17:46566000-46566400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr17:46566000-46566400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr17:46566000-46566400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr17:46566000-46566400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr17:46566000-46566400	Enhancers	Gastric	stomach
47	chr17:46566000-46566600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
48	chr17:46566000-46566600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr17:46566000-46567600	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr17:46566000-46568000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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