Variant report

Variant	esv3421466
Chromosome Location	chr17:60223795-60226343
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:60216926..60219313-chr17:60226325..60227963,2	MCF-7	breast:
2	chr17:60223419..60225986-chr17:60246691..60249394,3	K562	blood:
3	chr17:60223374..60225128-chr17:60229979..60232705,2	K562	blood:
4	chr17:60226215..60228011-chr17:60264780..60266849,2	MCF-7	breast:
5	chr17:60216224..60217882-chr17:60223042..60224901,2	MCF-7	breast:
6	chr17:60224894..60230387-chr17:60232455..60235896,6	MCF-7	breast:
7	chr17:60223572..60225128-chr17:60229841..60231479,2	K562	blood:

Variant related genes	Relation type
ENSG00000266066	chromatin interactions

Extended variants
information (count: 99 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12449546	chr17:60223798-60223799	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs150380608	chr17:60223804-60223805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553094189	chr17:60223805-60223806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567014983	chr17:60223821-60223822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186112047	chr17:60223824-60223825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs576201813	chr17:60223840-60223841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552604098	chr17:60223857-60223858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs12940990	chr17:60223864-60223865	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs188373331	chr17:60223888-60223889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535913154	chr17:60223942-60223943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs111303906	chr17:60223954-60223955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181198190	chr17:60224016-60224017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs80157609	chr17:60224017-60224018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185639356	chr17:60224022-60224023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544543028	chr17:60224030-60224031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs112163065	chr17:60224050-60224051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs376793504	chr17:60224080-60224081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564522493	chr17:60224134-60224135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574860207	chr17:60224145-60224146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375127452	chr17:60224198-60224199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs373795597	chr17:60224211-60224212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545022606	chr17:60224241-60224242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546871634	chr17:60224270-60224271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs368726466	chr17:60224306-60224307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532835272	chr17:60224325-60224326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs113901697	chr17:60224370-60224371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs75834183	chr17:60224428-60224429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs58851416	chr17:60224544-60224545	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs62070715	chr17:60224589-60224590	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs531688227	chr17:60224651-60224652	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572707011	chr17:60224658-60224659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375086860	chr17:60224706-60224707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548569893	chr17:60224709-60224710	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190443357	chr17:60224723-60224724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs118130814	chr17:60224743-60224744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552870042	chr17:60224749-60224750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566363604	chr17:60224803-60224804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182986713	chr17:60224826-60224827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368500733	chr17:60224840-60224841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558404351	chr17:60224863-60224864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542819147	chr17:60224871-60224872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111553973	chr17:60224907-60224908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574274980	chr17:60224918-60224919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187081054	chr17:60224948-60224949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542975228	chr17:60225007-60225008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575181777	chr17:60225008-60225009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192361325	chr17:60225039-60225040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543820638	chr17:60225119-60225120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111782196	chr17:60225131-60225132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561529698	chr17:60225155-60225156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
low-grade B-cell lymphoma tumor	18367492	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
Neuroblastoma	19435921	CNVD
Breast cancer	17899364	CNVD
Multiple myeloma	16616336	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	16620391	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21611746	CNVD
Williams-Beuren syndrome	16971481	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21958427	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
Cancer	21129771	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:60218600-60225600	Weak transcription	Fetal Intestine Small	intestine
2	chr17:60220600-60224400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr17:60221600-60226400	Weak transcription	Stomach Mucosa	stomach
4	chr17:60223400-60224800	Enhancers	Placenta	Placenta
5	chr17:60223600-60224600	Weak transcription	K562	blood
6	chr17:60223600-60225800	Weak transcription	Fetal Intestine Large	intestine
7	chr17:60224400-60224800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr17:60224600-60224800	Enhancers	K562	blood
9	chr17:60224800-60225600	Weak transcription	K562	blood
10	chr17:60225600-60226800	Enhancers	Fetal Intestine Small	intestine
11	chr17:60225800-60226800	Enhancers	Fetal Intestine Large	intestine
12	chr17:60226200-60226600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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