Variant report

Variant	nsv908567
Chromosome Location	chr17:45473107-45494645
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:11)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:45485568..45487998-chr17:45490186..45492096,2	K562	blood:
2	chr17:45463722..45466707-chr17:45470914..45473396,3	K562	blood:
3	chr17:45443966..45446911-chr17:45490626..45492639,2	K562	blood:
4	chr17:45485568..45487998-chr17:45490186..45492096,2	K562	blood:
5	chr17:45474211..45476724-chr17:45477326..45478919,2	MCF-7	breast:
6	chr17:45443966..45446911-chr17:45490507..45492639,3	K562	blood:
7	chr17:45474211..45476724-chr17:45477326..45478919,2	MCF-7	breast:
8	chr17:45469114..45472029-chr17:45476038..45478353,2	K562	blood:
9	chr17:45489885..45492541-chr17:45494163..45496455,2	MCF-7	breast:
10	chr17:45489885..45492541-chr17:45494163..45496455,2	MCF-7	breast:
11	chr17:45468184..45470293-chr17:45471127..45473354,2	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: 754 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:754 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11869768	chr17:45473107-45473108	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs528155041	chr17:45473115-45473116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548171784	chr17:45473137-45473138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183615111	chr17:45473144-45473145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537035238	chr17:45473156-45473157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377305472	chr17:45473161-45473162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369451369	chr17:45473170-45473171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570384445	chr17:45473171-45473172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376417370	chr17:45473182-45473183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369507720	chr17:45473191-45473192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs199837501	chr17:45473194-45473195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147065442	chr17:45473225-45473226	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs74745378	chr17:45473229-45473230	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138451034	chr17:45473241-45473242	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs17855599	chr17:45473247-45473248	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187013941	chr17:45473264-45473265	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201179775	chr17:45473265-45473266	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141056676	chr17:45473297-45473298	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs377512439	chr17:45473304-45473305	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150251915	chr17:45473313-45473314	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555824646	chr17:45473323-45473324	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144853553	chr17:45473344-45473345	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376326478	chr17:45473347-45473348	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370264878	chr17:45473379-45473380	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189930308	chr17:45473380-45473381	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs199753910	chr17:45473385-45473386	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146014746	chr17:45473413-45473414	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533633855	chr17:45473431-45473432	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540840781	chr17:45473432-45473433	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138720666	chr17:45473436-45473437	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372710519	chr17:45473437-45473438	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529507875	chr17:45473468-45473469	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182610504	chr17:45473470-45473471	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540655634	chr17:45473507-45473508	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558944474	chr17:45473594-45473595	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141271391	chr17:45473624-45473625	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530444479	chr17:45473659-45473660	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550515497	chr17:45473766-45473767	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548769260	chr17:45473768-45473769	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574579169	chr17:45473782-45473783	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs77310338	chr17:45473791-45473792	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541917122	chr17:45473823-45473824	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146959619	chr17:45473870-45473871	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs116508259	chr17:45473914-45473915	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374986597	chr17:45473991-45473992	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs72829615	chr17:45474030-45474031	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs186546336	chr17:45474092-45474093	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs137857255	chr17:45474114-45474115	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191418583	chr17:45474222-45474223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558143907	chr17:45474370-45474371	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:72 , 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	chr17:45461600-45475200	Weak transcription	Colon Smooth Muscle	Colon
4	chr17:45461600-45500600	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr17:45461600-45500600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr17:45463600-45473400	Weak transcription	Fetal Brain Male	brain
7	chr17:45463800-45477800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr17:45464000-45481400	Weak transcription	Lung	lung
9	chr17:45464000-45487800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr17:45464200-45496800	Weak transcription	Fetal Intestine Small	intestine
11	chr17:45464400-45477000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr17:45464400-45493800	Weak transcription	Ovary	ovary
13	chr17:45465600-45496800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr17:45465600-45500200	Weak transcription	Primary B cells from cord blood	blood
15	chr17:45466800-45499600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr17:45467000-45473200	Weak transcription	Primary B cells from peripheral blood	blood
17	chr17:45470400-45500400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr17:45472000-45474800	Weak transcription	NHDF-Ad	bronchial
19	chr17:45472200-45500600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr17:45472600-45481400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr17:45473200-45474200	Strong transcription	Primary B cells from peripheral blood	blood
22	chr17:45473400-45476600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr17:45474200-45481200	Weak transcription	Primary B cells from peripheral blood	blood
24	chr17:45476400-45476600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr17:45477200-45477400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr17:45477400-45478600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr17:45477400-45478600	Enhancers	Stomach Mucosa	stomach
28	chr17:45477800-45478200	Enhancers	Gastric	stomach
29	chr17:45477800-45478200	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr17:45478000-45478200	Enhancers	Pancreas	Pancrea
31	chr17:45478200-45480200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr17:45478600-45480200	Weak transcription	Stomach Mucosa	stomach
33	chr17:45480200-45480400	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr17:45480200-45480400	Enhancers	Stomach Mucosa	stomach
35	chr17:45481200-45481800	Enhancers	Primary B cells from peripheral blood	blood
36	chr17:45481400-45482000	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr17:45481400-45482400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr17:45481800-45492800	Weak transcription	Primary B cells from peripheral blood	blood
39	chr17:45482400-45483000	Enhancers	Fetal Heart	heart
40	chr17:45482400-45486800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr17:45484600-45489000	Weak transcription	Right Ventricle	heart
42	chr17:45484800-45500400	Weak transcription	Liver	Liver
43	chr17:45485800-45500400	Weak transcription	Primary T cells from cord blood	blood
44	chr17:45486800-45488200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr17:45487400-45488000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr17:45487800-45488200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr17:45488200-45491200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr17:45489400-45489600	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr17:45489400-45489800	Enhancers	H1 Cell Line	embryonic stem cell
50	chr17:45489400-45490000	Enhancers	HUES48 Cell Line	embryonic stem cell

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