Variant report

Variant	esv3432473
Chromosome Location	chr17:37637788-37638077
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	chr17:37630996..37634075-chr17:37634333..37637888,3	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543111078	chr17:37637788-37637789	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561489594	chr17:37637806-37637807	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531894301	chr17:37637855-37637856	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550504783	chr17:37637867-37637868	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565563342	chr17:37637870-37637871	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs367927906	chr17:37637871-37637872	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532834124	chr17:37637877-37637878	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375327281	chr17:37637881-37637882	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111671342	chr17:37637886-37637887	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12940667	chr17:37637888-37637889	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12940668	chr17:37637890-37637891	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369451956	chr17:37637896-37637897	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533654667	chr17:37637919-37637920	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373948188	chr17:37637944-37637945	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs58047556	chr17:37637953-37637954	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs62077460	chr17:37637965-37637966	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
17	rs75643336	chr17:37637979-37637980	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200157163	chr17:37637981-37637982	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200114122	chr17:37637982-37637983	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12450762	chr17:37637984-37637985	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs76630678	chr17:37637985-37637986	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75726138	chr17:37637991-37637992	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78423166	chr17:37637993-37637994	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77474724	chr17:37638004-37638005	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77990928	chr17:37638005-37638006	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs76108622	chr17:37638006-37638007	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs74736793	chr17:37638007-37638008	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs72827103	chr17:37638014-37638015	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs139286416	chr17:37638019-37638020	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs75064361	chr17:37638025-37638026	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149402853	chr17:37638042-37638043	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564863619	chr17:37638048-37638049	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556233662	chr17:37638051-37638052	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs77172439	chr17:37638059-37638060	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79682424	chr17:37638060-37638061	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs78077571	chr17:37638066-37638067	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs75476540	chr17:37638076-37638077	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79058800	chr17:37638077-37638078	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37619800-37649200	Weak transcription	Esophagus	oesophagus
2	chr17:37620400-37650600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr17:37622200-37647000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr17:37623000-37641000	Strong transcription	Fetal Thymus	thymus
5	chr17:37623600-37642000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr17:37624000-37641600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr17:37624000-37680400	Weak transcription	Fetal Brain Male	brain
8	chr17:37624000-37690600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr17:37624200-37639800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr17:37624800-37643000	Strong transcription	Fetal Stomach	stomach
11	chr17:37625200-37641000	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr17:37625200-37641800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr17:37625400-37639800	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr17:37625400-37639800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr17:37625400-37641000	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr17:37625400-37641400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr17:37626600-37641000	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr17:37626600-37690600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr17:37626800-37641000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr17:37626800-37641000	Strong transcription	Liver	Liver
21	chr17:37626800-37641600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr17:37626800-37642800	Strong transcription	Fetal Intestine Large	intestine
23	chr17:37627000-37640400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr17:37627000-37640400	Strong transcription	Fetal Muscle Trunk	muscle
25	chr17:37627000-37640800	Strong transcription	Fetal Muscle Leg	muscle
26	chr17:37627000-37661600	Strong transcription	Fetal Intestine Small	intestine
27	chr17:37627200-37639200	Strong transcription	Thymus	Thymus
28	chr17:37627800-37646800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr17:37628000-37642600	Weak transcription	Psoas Muscle	Psoas
30	chr17:37628000-37646800	Weak transcription	Colonic Mucosa	Colon
31	chr17:37628200-37642000	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr17:37628200-37646800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr17:37628400-37646800	Weak transcription	Rectal Smooth Muscle	rectum
34	chr17:37628400-37646800	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr17:37628400-37682200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr17:37628600-37649000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr17:37628800-37649200	Weak transcription	Aorta	Aorta
38	chr17:37629000-37649000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr17:37629200-37642200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr17:37629200-37649600	Weak transcription	Gastric	stomach
41	chr17:37629200-37655400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr17:37629400-37649000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr17:37630800-37646800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr17:37630800-37646800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr17:37630800-37657200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr17:37631000-37640200	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr17:37631000-37640400	Weak transcription	K562	blood
48	chr17:37631000-37644200	Weak transcription	NH-A	brain
49	chr17:37631000-37646800	Weak transcription	Fetal Kidney	kidney
50	chr17:37631000-37647400	Weak transcription	Small Intestine	intestine

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