Variant report

Variant	esv3333158
Chromosome Location	chr17:46773553-46775401
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F4	chr17:46773904-46774078	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr17:46773857-46774089	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr17:46773792-46774094	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr17:46773754-46774089	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr17:46773754-46774114	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:46770373..46774309-chr17:46775013..46779321,3	K562	blood:
2	chr17:46770373..46774309-chr17:46775013..46779321,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CALCOCO2-12	chr17:46773611-46774931	ucscGeneNc_uc002itt_1

Variant related genes	Relation type
RPL9P28	TF binding region

Extended variants
information (count: 59 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8068983	chr17:46773622-46773623	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs553934469	chr17:46773666-46773667	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs369555964	chr17:46773674-46773675	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs530383932	chr17:46773677-46773678	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs148806468	chr17:46773679-46773680	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs536563669	chr17:46773707-46773708	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs556479276	chr17:46773731-46773732	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs550012873	chr17:46773748-46773749	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs576156494	chr17:46773750-46773751	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs538630963	chr17:46773760-46773761	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs373143120	chr17:46773768-46773769	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs558228688	chr17:46773813-46773814	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs572111480	chr17:46773901-46773902	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs540743490	chr17:46773906-46773907	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs376027114	chr17:46773915-46773916	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs78804410	chr17:46773997-46773998	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs139807559	chr17:46774006-46774007	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs73326029	chr17:46774071-46774072	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs543735055	chr17:46774072-46774073	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs371554347	chr17:46774104-46774105	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs563784956	chr17:46774136-46774137	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs116643154	chr17:46774148-46774149	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs147685131	chr17:46774215-46774216	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs59148759	chr17:46774218-46774219	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs201491566	chr17:46774235-46774236	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs10853102	chr17:46774342-46774343	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs559439677	chr17:46774382-46774383	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs528605918	chr17:46774402-46774403	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs57884632	chr17:46774406-46774407	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs567484879	chr17:46774498-46774499	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs145273753	chr17:46774593-46774594	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs117345525	chr17:46774621-46774622	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs183199226	chr17:46774669-46774670	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs187639159	chr17:46774680-46774681	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs145014433	chr17:46774764-46774765	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs57302324	chr17:46774783-46774784	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs534751533	chr17:46774784-46774785	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs115088222	chr17:46774796-46774797	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs61102347	chr17:46774809-46774810	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs7222822	chr17:46774872-46774873	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs563499160	chr17:46774895-46774896	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs577122344	chr17:46774966-46774967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs4793972	chr17:46775005-46775006	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs149077321	chr17:46775016-46775017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376981932	chr17:46775048-46775049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528457421	chr17:46775075-46775076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548688260	chr17:46775132-46775133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs76398058	chr17:46775188-46775189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370948440	chr17:46775223-46775224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550006200	chr17:46775268-46775269	Weak transcription	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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46756800-46786400	Weak transcription	Colonic Mucosa	Colon
2	chr17:46765600-46782600	Weak transcription	Rectal Mucosa Donor 29	rectum

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