Variant report

Variant	nsv575464
Chromosome Location	chr17:45617156-45619608
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45607951..45610083-chr17:45616920..45619918,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000141279	chromatin interactions

Extended variants
information (count: 76 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568514550	chr17:45617203-45617204	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs537416607	chr17:45617238-45617239	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs551670155	chr17:45617306-45617307	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs560095011	chr17:45617371-45617372	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs372481426	chr17:45617410-45617411	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs571485141	chr17:45617426-45617427	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs534075150	chr17:45617460-45617461	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs377042333	chr17:45617464-45617465	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs554058325	chr17:45617465-45617466	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs573873733	chr17:45617479-45617480	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs548772957	chr17:45617502-45617503	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs191977170	chr17:45617505-45617506	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs556664952	chr17:45617523-45617524	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs576397713	chr17:45617569-45617570	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs545104523	chr17:45617616-45617617	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs371060956	chr17:45617666-45617667	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs565258752	chr17:45617751-45617752	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs572695721	chr17:45617761-45617762	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs113542036	chr17:45617798-45617799	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs541315193	chr17:45617807-45617808	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs2611958	chr17:45617817-45617818	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs561153768	chr17:45617863-45617864	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs139304145	chr17:45617911-45617912	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs548691843	chr17:45617941-45617942	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs147501644	chr17:45617955-45617956	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs183559246	chr17:45617970-45617971	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs187576721	chr17:45617974-45617975	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs76823069	chr17:45618054-45618055	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs113868644	chr17:45618097-45618098	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs571221850	chr17:45618115-45618116	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs116297483	chr17:45618120-45618121	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs111345337	chr17:45618137-45618138	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs547677260	chr17:45618204-45618205	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs567474157	chr17:45618213-45618214	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs536416390	chr17:45618221-45618222	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs556375445	chr17:45618235-45618236	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs576486458	chr17:45618246-45618247	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs369290967	chr17:45618330-45618331	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs111767294	chr17:45618346-45618347	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs374511653	chr17:45618363-45618364	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs558721463	chr17:45618384-45618385	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs191731844	chr17:45618392-45618393	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs146481485	chr17:45618467-45618468	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs111505851	chr17:45618477-45618478	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs370014473	chr17:45618483-45618484	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs367544277	chr17:45618517-45618518	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs570945522	chr17:45618598-45618599	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs182786937	chr17:45618601-45618602	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs574709385	chr17:45618611-45618612	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs543644288	chr17:45618703-45618704	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:119)

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	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Epithelial cancer	20478067	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45609800-45624800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr17:45610000-45617400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr17:45610000-45623400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr17:45610000-45624000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr17:45610000-45624400	Weak transcription	Placenta	Placenta
6	chr17:45610000-45624800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr17:45610000-45630000	Weak transcription	Gastric	stomach
8	chr17:45610000-45638600	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr17:45610000-45639000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr17:45610000-45670600	Weak transcription	Lung	lung
11	chr17:45610000-45670600	Weak transcription	Pancreas	Pancrea
12	chr17:45610000-45676800	Weak transcription	Ovary	ovary
13	chr17:45610200-45674200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr17:45610400-45617800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr17:45610400-45617800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr17:45610400-45623400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr17:45610400-45624600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr17:45610400-45633800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr17:45610400-45637600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr17:45610400-45637800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr17:45610400-45639200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr17:45610400-45646800	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr17:45610400-45647000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr17:45610400-45647600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr17:45610400-45647600	Weak transcription	Osteobl	bone
26	chr17:45610400-45662600	Weak transcription	Adipose Nuclei	Adipose
27	chr17:45610400-45670600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr17:45610600-45617400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr17:45610600-45617800	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr17:45610600-45623400	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr17:45610600-45623400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr17:45610600-45623400	Weak transcription	Fetal Intestine Large	intestine
33	chr17:45610600-45624000	Weak transcription	Fetal Stomach	stomach
34	chr17:45610600-45624000	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr17:45610600-45624600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr17:45610600-45626400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr17:45610600-45626400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr17:45610600-45637200	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr17:45610600-45647000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr17:45610600-45647000	Weak transcription	Dnd41	blood
41	chr17:45610600-45662200	Weak transcription	HSMM	muscle
42	chr17:45610600-45669200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr17:45610600-45670200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr17:45610800-45623400	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr17:45610800-45624600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr17:45610800-45669000	Weak transcription	NH-A	brain
47	chr17:45611000-45618400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr17:45611000-45623600	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr17:45611000-45647000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr17:45611200-45629600	Weak transcription	Muscle Satellite Cultured Cells	--

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