Variant report

Variant	esv2132100
Chromosome Location	chr17:37447966-37448940
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	chr17:37447109..37449563-chr17:37453918..37456392,2	K562	blood:
2	chr17:37445187..37446849-chr17:37448541..37450328,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576014082	chr17:37447972-37447973	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs367883644	chr17:37447983-37447984	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78507345	chr17:37448026-37448027	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145616151	chr17:37448052-37448053	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138497349	chr17:37448056-37448057	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576958686	chr17:37448119-37448120	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546302865	chr17:37448213-37448214	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574378158	chr17:37448242-37448243	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77222571	chr17:37448402-37448403	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186631903	chr17:37448430-37448431	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373504821	chr17:37448442-37448443	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149666105	chr17:37448583-37448584	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143054326	chr17:37448608-37448609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190549080	chr17:37448632-37448633	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562700030	chr17:37448643-37448644	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376959993	chr17:37448648-37448649	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562118198	chr17:37448748-37448749	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200513544	chr17:37448753-37448754	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145123057	chr17:37448770-37448771	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112115974	chr17:37448806-37448807	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552100255	chr17:37448826-37448827	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs667193	chr17:37448835-37448836	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs534732046	chr17:37448836-37448837	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546644890	chr17:37448856-37448857	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12951028	chr17:37448868-37448869	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs151046225	chr17:37448893-37448894	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369428039	chr17:37448894-37448895	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs57382269	chr17:37448898-37448899	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Sezary syndrome	18413736	CNVD
Cancer	20164920	CNVD
Cancer	17440070	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37408000-37463000	Weak transcription	Small Intestine	intestine
2	chr17:37409800-37464000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr17:37417400-37458600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr17:37417600-37460800	Weak transcription	Fetal Brain Male	brain
5	chr17:37425000-37473000	Weak transcription	Pancreas	Pancrea
6	chr17:37426200-37453800	Weak transcription	Aorta	Aorta
7	chr17:37426600-37460800	Weak transcription	Colonic Mucosa	Colon
8	chr17:37426800-37468600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr17:37430800-37462600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr17:37431200-37450800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr17:37431200-37453200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr17:37431200-37453200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr17:37431200-37453200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr17:37431200-37462600	Weak transcription	Colon Smooth Muscle	Colon
15	chr17:37431400-37452800	Weak transcription	Dnd41	blood
16	chr17:37431400-37453000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr17:37431400-37453200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr17:37431400-37453200	Weak transcription	Brain Substantia Nigra	brain
19	chr17:37431400-37453600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr17:37431400-37453600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr17:37431400-37473400	Weak transcription	Esophagus	oesophagus
22	chr17:37431600-37453000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr17:37431600-37453800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr17:37431600-37453800	Weak transcription	Right Ventricle	heart
25	chr17:37433800-37457000	Weak transcription	GM12878-XiMat	blood
26	chr17:37434000-37452400	Weak transcription	Primary B cells from peripheral blood	blood
27	chr17:37434200-37453200	Weak transcription	Primary B cells from cord blood	blood
28	chr17:37434800-37450200	Weak transcription	Lung	lung
29	chr17:37435200-37453400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr17:37435600-37469400	Weak transcription	Gastric	stomach
31	chr17:37435800-37453800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr17:37435800-37455600	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr17:37436000-37448400	Weak transcription	Brain Hippocampus Middle	brain
34	chr17:37436000-37455200	Weak transcription	Fetal Kidney	kidney
35	chr17:37436000-37496200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr17:37436200-37448800	Weak transcription	Fetal Muscle Leg	muscle
37	chr17:37436200-37451000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr17:37436200-37453600	Weak transcription	Spleen	Spleen
39	chr17:37436800-37453800	Weak transcription	Ovary	ovary
40	chr17:37436800-37497800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr17:37437200-37453000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr17:37437400-37451200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr17:37437400-37453800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr17:37437600-37453200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr17:37437800-37450200	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr17:37437800-37451000	Weak transcription	Adipose Nuclei	Adipose
47	chr17:37437800-37453200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr17:37437800-37462400	Weak transcription	Brain Anterior Caudate	brain
49	chr17:37438000-37452400	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr17:37438000-37454000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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