Variant report

Variant	nsv819586
Chromosome Location	chr17:37680887-37681494
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr17:37680880-37681030	GM06990	blood:	n/a	n/a
2	POLR2A	chr17:37680973-37681164	K562	blood:	n/a	n/a
3	POLR2A	chr17:37680910-37681024	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr17:37680864-37681175	K562	blood:	n/a	n/a
5	POLR2A	chr17:37681394-37681553	Hela-S3	cervix:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:37678954..37681636-chr17:37690664..37692271,2	K562	blood:
2	chr17:37678990..37682244-chr17:37684077..37686277,3	K562	blood:
3	chr17:37680355..37681953-chr17:37765520..37767735,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MED1-3	chr17:37680925-37681246	expReg_chr17_6749_-

No data

Variant related genes	Relation type
CDK12	TF binding region
ENSG00000171532	chromatin interactions
ENSG00000167258	chromatin interactions

Extended variants
information (count: 21 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370654863	chr17:37680995-37680996	Strong transcription Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
2	rs143648695	chr17:37681031-37681032	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
3	rs374536504	chr17:37681047-37681048	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
4	rs376349231	chr17:37681084-37681085	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
5	rs538927859	chr17:37681085-37681086	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
6	rs80108497	chr17:37681088-37681089	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
7	rs144011843	chr17:37681117-37681118	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
8	rs372159147	chr17:37681133-37681134	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
9	rs368288008	chr17:37681176-37681177	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
10	rs199820580	chr17:37681177-37681178	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
11	rs543143054	chr17:37681199-37681200	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
12	rs562460338	chr17:37681215-37681216	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
13	rs188435015	chr17:37681241-37681242	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
14	rs147126975	chr17:37681245-37681246	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
15	rs8065963	chr17:37681332-37681333	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs543616128	chr17:37681340-37681341	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs565125886	chr17:37681365-37681366	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs548173917	chr17:37681383-37681384	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs370776623	chr17:37681416-37681417	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs541547582	chr17:37681420-37681421	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs561566589	chr17:37681432-37681433	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	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:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37624000-37690600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:37626600-37690600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr17:37628400-37682200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr17:37634200-37688600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr17:37636200-37685800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr17:37640400-37691000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr17:37642000-37689600	Strong transcription	Fetal Thymus	thymus
8	chr17:37643200-37688600	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr17:37643400-37689000	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr17:37644000-37685200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr17:37644400-37688200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr17:37645000-37689000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr17:37645000-37689600	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr17:37645400-37685600	Strong transcription	Fetal Muscle Trunk	muscle
15	chr17:37645600-37689200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr17:37646000-37684800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr17:37646000-37688400	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr17:37646400-37688200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr17:37646400-37688600	Strong transcription	Fetal Intestine Large	intestine
20	chr17:37646400-37689800	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr17:37646600-37687200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr17:37646600-37688200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr17:37646600-37688800	Strong transcription	Liver	Liver
24	chr17:37646600-37689600	Strong transcription	Dnd41	blood
25	chr17:37646600-37690200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr17:37646800-37682200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr17:37646800-37683800	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr17:37646800-37685600	Strong transcription	Duodenum Smooth Muscle	Duodenum
29	chr17:37646800-37686200	Strong transcription	Adipose Nuclei	Adipose
30	chr17:37646800-37688200	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr17:37646800-37688600	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr17:37646800-37688600	Strong transcription	Placenta	Placenta
33	chr17:37646800-37689000	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr17:37646800-37689000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr17:37646800-37689000	Strong transcription	Primary B cells from peripheral blood	blood
36	chr17:37646800-37689200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr17:37646800-37689200	Strong transcription	HepG2	liver
38	chr17:37646800-37690000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr17:37653800-37688400	Strong transcription	Stomach Smooth Muscle	stomach
40	chr17:37655400-37689200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr17:37655600-37689600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr17:37655600-37689800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr17:37656000-37688800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr17:37656200-37682200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr17:37657400-37689200	Strong transcription	Duodenum Mucosa	Duodenum
46	chr17:37658000-37687000	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr17:37659200-37689200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr17:37660600-37704400	Weak transcription	Stomach Mucosa	stomach
49	chr17:37661800-37683800	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr17:37663800-37688400	Strong transcription	H1 Cell Line	embryonic stem cell

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