Variant report

Variant	esv3409886
Chromosome Location	chr17:38005526-38008274
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	chr17:38004767..38008555-chr17:38017604..38021491,3	K562	blood:

Variant related genes	Relation type
ENSG00000161405	chromatin interactions

Extended variants
information (count: 162 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:162 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565046103	chr17:38005528-38005529	Enhancers Genic enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs28896477	chr17:38005534-38005535	Enhancers Genic enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs147945333	chr17:38005551-38005552	Enhancers Genic enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs34404658	chr17:38005563-38005564	Enhancers Genic enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs551355349	chr17:38005564-38005565	Enhancers Genic enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs28882824	chr17:38005582-38005583	Enhancers Genic enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs9916765	chr17:38005595-38005596	Enhancers Genic enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs186266254	chr17:38005638-38005639	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs563712390	chr17:38005720-38005721	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs531075571	chr17:38005725-38005726	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs552855256	chr17:38005727-38005728	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs189983757	chr17:38005729-38005730	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs528644645	chr17:38005738-38005739	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs28842324	chr17:38005742-38005743	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs34806208	chr17:38005752-38005753	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs181702291	chr17:38005765-38005766	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs374088791	chr17:38005779-38005780	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs536347760	chr17:38005784-38005785	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs376197254	chr17:38005787-38005788	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs569655758	chr17:38005804-38005805	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs113483163	chr17:38005826-38005827	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs145526337	chr17:38005841-38005842	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs114080397	chr17:38005891-38005892	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs117033951	chr17:38005892-38005893	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs555088519	chr17:38005900-38005901	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs144705303	chr17:38005917-38005918	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs549919547	chr17:38005931-38005932	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs562837934	chr17:38005937-38005938	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs78605454	chr17:38005980-38005981	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs372466869	chr17:38006008-38006009	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs186060899	chr17:38006063-38006064	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs566574918	chr17:38006109-38006110	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs150962440	chr17:38006167-38006168	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs115233364	chr17:38006177-38006178	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs545824252	chr17:38006199-38006200	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs531865977	chr17:38006224-38006225	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs140770335	chr17:38006231-38006232	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs182133595	chr17:38006261-38006262	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs528805377	chr17:38006269-38006270	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs79411018	chr17:38006271-38006272	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs568324365	chr17:38006273-38006274	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs529727065	chr17:38006286-38006287	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs568447024	chr17:38006288-38006289	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs111359999	chr17:38006305-38006306	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs372554731	chr17:38006306-38006307	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs555651028	chr17:38006319-38006320	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs8071789	chr17:38006333-38006334	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
48	rs80053986	chr17:38006341-38006342	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs111160693	chr17:38006349-38006350	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs569685611	chr17:38006363-38006364	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:125)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
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
Breast cancer	17001317	CNVD
Breast cancer	17157792	CNVD
Bladder cancer	19088036	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
Meningioma	19431122	CNVD
Neurocytoma	17123091	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastric cancer	24379144	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16785998	CNVD
Breast cancer	17850661	CNVD
Primary lung adenocarcinoma	16799635	CNVD
HIV/AIDS	18848619	CNVD
Rheumatoid arthritis	19220326	CNVD
Rheumatoid arthritis	18848619	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	18848619	CNVD
Type 1 diabetes	19220326	CNVD
HIV/AIDS	17330138	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	19955444	CNVD
Schizophrenia	19955444	CNVD
Acute monocytic leukemia	16498392	CNVD
Breast cancer	20409316	CNVD
Myelodysplastic syndrome	18663149	CNVD
Breast cancer	17457667	CNVD
Breast cancer	16951389	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16620391	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	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
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Sezary syndrome	18413736	CNVD
Urothelial carcinoma	21177765	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Disease	22962312	CNVD
Mental retardation	20152051	CNVD
Mental retardation	19951919	CNVD
Mental retardation	22817714	CNVD
Mental retardation	21956041	CNVD
Brain cancer	19584924	CNVD
Glioblastoma multiforme	22286061	CNVD
Schizophrenia	21399695	CNVD
Non-syndromic sensorineural hearing loss	19165922	CNVD
Prader-willi syndrome	20588305	CNVD
17q21.31 microdeletion syndrome	16940994	CNVD
Non-syndromic sensorineural hearing loss	21084979	CNVD
17q21.31 microdeletion syndrome	22283845	CNVD
Intellectual disability	22194194	CNVD
17q21.31 microdeletion syndrome	20606400	CNVD
17q21.31 microdeletion syndrome	18628315	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
TAR Syndrome	17847015	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37999600-38006200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr17:38000000-38006000	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr17:38000800-38017400	Weak transcription	Thymus	Thymus
4	chr17:38003000-38006200	Genic enhancers	Primary B cells from peripheral blood	blood
5	chr17:38003200-38006200	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr17:38003400-38006200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr17:38003600-38005600	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr17:38003600-38006200	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr17:38003600-38006200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr17:38003800-38005800	Enhancers	Primary T cells fromperipheralblood	blood
11	chr17:38003800-38006000	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr17:38003800-38006200	Enhancers	Primary T cells from cord blood	blood
13	chr17:38004000-38010800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr17:38004400-38008600	Weak transcription	Pancreas	Pancrea
15	chr17:38004400-38016800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr17:38004600-38006200	Genic enhancers	GM12878-XiMat	blood
17	chr17:38004800-38005600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr17:38005000-38005600	Genic enhancers	Fetal Thymus	thymus
19	chr17:38005000-38005800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr17:38005200-38005800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr17:38005200-38006000	Enhancers	Primary B cells from cord blood	blood
22	chr17:38005200-38008400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr17:38005200-38014200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr17:38005600-38006200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr17:38005600-38006200	Strong transcription	Fetal Thymus	thymus
26	chr17:38005800-38006200	Genic enhancers	Primary T cells fromperipheralblood	blood
27	chr17:38005800-38006200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr17:38005800-38006200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr17:38006000-38007200	Weak transcription	Primary B cells from cord blood	blood
30	chr17:38006000-38007800	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr17:38006000-38008200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr17:38006200-38007200	Weak transcription	Primary B cells from peripheral blood	blood
33	chr17:38006200-38007200	Weak transcription	GM12878-XiMat	blood
34	chr17:38006200-38007400	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr17:38006200-38007400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr17:38006200-38007400	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr17:38006200-38007400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr17:38006200-38007800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr17:38006200-38007800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr17:38006200-38007800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr17:38006200-38008400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr17:38006200-38008600	Weak transcription	Primary T cells from cord blood	blood
43	chr17:38006200-38008800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr17:38006200-38017400	Weak transcription	Fetal Thymus	thymus
45	chr17:38007200-38007600	Strong transcription	Primary B cells from cord blood	blood
46	chr17:38007200-38008200	ZNF genes & repeats	GM12878-XiMat	blood
47	chr17:38007200-38016600	Genic enhancers	Primary B cells from peripheral blood	blood
48	chr17:38007400-38007600	Genic enhancers	Primary T cells fromperipheralblood	blood
49	chr17:38007400-38009400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr17:38007400-38009600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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