Variant report

Variant	esv2762621
Chromosome Location	chr17:45478611-45493984
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:45485568..45487998-chr17:45490186..45492096,2	K562	blood:
2	chr17:45485568..45487998-chr17:45490186..45492096,2	K562	blood:
3	chr17:45474211..45476724-chr17:45477326..45478919,2	MCF-7	breast:
4	chr17:45443966..45446911-chr17:45490626..45492639,2	K562	blood:
5	chr17:45443966..45446911-chr17:45490507..45492639,3	K562	blood:
6	chr17:45489885..45492541-chr17:45494163..45496455,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC040934.1-1	chr17:45486688-45487035	ENSG00000253347.1

No data

Extended variants
information (count: 503 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:503 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369555208	chr17:45478682-45478683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542192448	chr17:45478685-45478686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562382833	chr17:45478738-45478739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531030767	chr17:45478750-45478751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187873224	chr17:45478797-45478798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs193044959	chr17:45478836-45478837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569774335	chr17:45478838-45478839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532200733	chr17:45478843-45478844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567851235	chr17:45478897-45478898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535467956	chr17:45478921-45478922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552301066	chr17:45478956-45478957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs117359954	chr17:45478963-45478964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556661239	chr17:45478983-45478984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs35512121	chr17:45479007-45479008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534596727	chr17:45479035-45479036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554596270	chr17:45479078-45479079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs9895746	chr17:45479099-45479100	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs184108295	chr17:45479107-45479108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556690475	chr17:45479285-45479286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576624368	chr17:45479289-45479290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149992626	chr17:45479296-45479297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527976541	chr17:45479302-45479303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374451360	chr17:45479381-45479382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573182471	chr17:45479406-45479407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12452315	chr17:45479446-45479447	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs374450086	chr17:45479455-45479456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376438902	chr17:45479458-45479459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375232583	chr17:45479459-45479460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368463925	chr17:45479462-45479463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138059918	chr17:45479497-45479498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372026703	chr17:45479519-45479520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541023438	chr17:45479530-45479531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374124730	chr17:45479549-45479550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145070701	chr17:45479592-45479593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs367665726	chr17:45479593-45479594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148703535	chr17:45479607-45479608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373882245	chr17:45479681-45479682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144400242	chr17:45479687-45479688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs56195427	chr17:45479696-45479697	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs11079774	chr17:45479706-45479707	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs187456606	chr17:45479708-45479709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12452796	chr17:45479733-45479734	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs568275215	chr17:45479751-45479752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536994598	chr17:45479787-45479788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs79544557	chr17:45479839-45479840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570347183	chr17:45479896-45479897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539224104	chr17:45479900-45479901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553211458	chr17:45479906-45479907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2175290	chr17:45479917-45479918	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs192260809	chr17:45480068-45480069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:118)

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
Chronic lymphocytic leukemia	21546498	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
Urothelial carcinoma	21177765	CNVD
Breast cancer	17142309	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
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45402200-45500800	Weak transcription	Aorta	Aorta
2	chr17:45461400-45500400	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr17:45461600-45500600	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr17:45461600-45500600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr17:45464000-45481400	Weak transcription	Lung	lung
6	chr17:45464000-45487800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr17:45464200-45496800	Weak transcription	Fetal Intestine Small	intestine
8	chr17:45464400-45493800	Weak transcription	Ovary	ovary
9	chr17:45465600-45496800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr17:45465600-45500200	Weak transcription	Primary B cells from cord blood	blood
11	chr17:45466800-45499600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr17:45470400-45500400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr17:45472200-45500600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr17:45472600-45481400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr17:45474200-45481200	Weak transcription	Primary B cells from peripheral blood	blood
16	chr17:45478200-45480200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr17:45478600-45480200	Weak transcription	Stomach Mucosa	stomach
18	chr17:45480200-45480400	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr17:45480200-45480400	Enhancers	Stomach Mucosa	stomach
20	chr17:45481200-45481800	Enhancers	Primary B cells from peripheral blood	blood
21	chr17:45481400-45482000	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr17:45481400-45482400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr17:45481800-45492800	Weak transcription	Primary B cells from peripheral blood	blood
24	chr17:45482400-45483000	Enhancers	Fetal Heart	heart
25	chr17:45482400-45486800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr17:45484600-45489000	Weak transcription	Right Ventricle	heart
27	chr17:45484800-45500400	Weak transcription	Liver	Liver
28	chr17:45485800-45500400	Weak transcription	Primary T cells from cord blood	blood
29	chr17:45486800-45488200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr17:45487400-45488000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr17:45487800-45488200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr17:45488200-45491200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr17:45489400-45489600	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr17:45489400-45489800	Enhancers	H1 Cell Line	embryonic stem cell
35	chr17:45489400-45490000	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr17:45489400-45490400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr17:45489600-45489800	Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr17:45489600-45490000	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr17:45489600-45490200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr17:45489600-45490200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr17:45489800-45490000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr17:45490000-45490400	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr17:45490200-45490800	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr17:45490200-45500200	Weak transcription	Adipose Nuclei	Adipose
45	chr17:45490400-45491400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr17:45490800-45502400	Weak transcription	HepG2	liver
47	chr17:45491200-45491400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr17:45491200-45491800	Enhancers	NHDF-Ad	bronchial
49	chr17:45491400-45491600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr17:45491400-45491800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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