Variant report

Variant	esv3449742
Chromosome Location	chr17:37950718-37951092
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	chr17:37945354..37947914-chr17:37949884..37951976,2	K562	blood:
2	chr17:37939870..37942689-chr17:37949107..37950989,2	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529995167	chr17:37950719-37950720	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548584658	chr17:37950778-37950779	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35938199	chr17:37950813-37950814	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs537733595	chr17:37950916-37950917	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149155266	chr17:37950963-37950964	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571048972	chr17:37950966-37950967	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115222924	chr17:37951058-37951059	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553858374	chr17:37951085-37951086	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	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
Cancer	20164920	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

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37939000-37961800	Weak transcription	Spleen	Spleen
2	chr17:37947800-37953400	Enhancers	Primary T cells fromperipheralblood	blood
3	chr17:37948400-37955400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr17:37948400-37956800	Weak transcription	Small Intestine	intestine
5	chr17:37948600-37951400	Enhancers	Duodenum Mucosa	Duodenum
6	chr17:37948800-37952000	Enhancers	Thymus	Thymus
7	chr17:37949400-37951800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr17:37949400-37952400	Enhancers	Primary B cells from peripheral blood	blood
9	chr17:37949800-37950800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr17:37949800-37952600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr17:37949800-37952800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr17:37950000-37950800	Flanking Active TSS	Primary T cells from cord blood	blood
13	chr17:37950000-37951800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr17:37950000-37952600	Enhancers	Fetal Thymus	thymus
15	chr17:37950000-37957000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr17:37950000-37957200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr17:37950000-37959400	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr17:37950400-37951200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
19	chr17:37950400-37956800	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr17:37950600-37950800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr17:37950600-37950800	Enhancers	GM12878-XiMat	blood
22	chr17:37950600-37951000	Enhancers	Stomach Mucosa	stomach
23	chr17:37950600-37951600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr17:37950600-37952800	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr17:37950600-37955400	Enhancers	Primary B cells from cord blood	blood
26	chr17:37950800-37951000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr17:37950800-37951600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
28	chr17:37950800-37951600	Enhancers	Dnd41	blood
29	chr17:37950800-37951600	Flanking Active TSS	GM12878-XiMat	blood
30	chr17:37950800-37956000	Enhancers	Primary T cells from cord blood	blood
31	chr17:37951000-37952800	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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