Variant report

Variant	nsv960030
Chromosome Location	chr17:37471987-37479670
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:37355091..37357446-chr17:37477278..37479743,2	K562	blood:
2	chr17:37478446..37480205-chr17:37480429..37483200,2	K562	blood:
3	chr17:37463799..37466279-chr17:37472914..37477134,3	K562	blood:
4	chr17:37471557..37473905-chr17:37476618..37478762,2	K562	blood:
5	chr17:37471557..37473905-chr17:37476618..37478762,2	K562	blood:
6	chr17:37464074..37466279-chr17:37474396..37477134,2	K562	blood:

Variant related genes	Relation type
ENSG00000108298	chromatin interactions

Extended variants
information (count: 307 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:307 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187608888	chr17:37471997-37471998	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs36158395	chr17:37472060-37472061	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558062095	chr17:37472066-37472067	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs372244754	chr17:37472069-37472070	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs375885672	chr17:37472082-37472083	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs141728220	chr17:37472083-37472084	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs71369743	chr17:37472096-37472097	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562290234	chr17:37472100-37472101	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573308298	chr17:37472104-37472105	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529433229	chr17:37472117-37472118	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573085136	chr17:37472119-37472120	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs368094288	chr17:37472121-37472122	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs140776809	chr17:37472123-37472124	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544801043	chr17:37472137-37472138	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558797184	chr17:37472179-37472180	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562982997	chr17:37472189-37472190	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577815541	chr17:37472195-37472196	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545324915	chr17:37472217-37472218	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs560377799	chr17:37472234-37472235	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528094142	chr17:37472272-37472273	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546229902	chr17:37472276-37472277	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561828638	chr17:37472279-37472280	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs191322320	chr17:37472312-37472313	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs113795902	chr17:37472328-37472329	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs373992265	chr17:37472329-37472330	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143199277	chr17:37472351-37472352	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs146661157	chr17:37472398-37472399	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs551716269	chr17:37472401-37472402	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575595488	chr17:37472414-37472415	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs117671925	chr17:37472438-37472439	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs544237816	chr17:37472475-37472476	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534188694	chr17:37472476-37472477	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs183077070	chr17:37472503-37472504	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs190992851	chr17:37472547-37472548	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs376035000	chr17:37472548-37472549	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs567643018	chr17:37472549-37472550	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs142178947	chr17:37472555-37472556	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs59063080	chr17:37472568-37472569	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs538003632	chr17:37472573-37472574	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs556601254	chr17:37472586-37472587	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs2338802	chr17:37472596-37472597	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545166940	chr17:37472711-37472712	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs554044880	chr17:37472712-37472713	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs373657876	chr17:37472788-37472789	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs367870647	chr17:37472791-37472792	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs371652319	chr17:37472822-37472823	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs187290845	chr17:37472829-37472830	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs367741532	chr17:37472846-37472847	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561574208	chr17:37472905-37472906	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs530178470	chr17:37472924-37472925	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37425000-37473000	Weak transcription	Pancreas	Pancrea
2	chr17:37431400-37473400	Weak transcription	Esophagus	oesophagus
3	chr17:37436000-37496200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr17:37436800-37497800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr17:37444000-37478400	Weak transcription	Psoas Muscle	Psoas
6	chr17:37453400-37507800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr17:37454000-37511600	Weak transcription	Hela-S3	cervix
8	chr17:37454600-37473600	Weak transcription	Brain Substantia Nigra	brain
9	chr17:37454800-37473800	Weak transcription	Spleen	Spleen
10	chr17:37454800-37474400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr17:37455200-37499800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr17:37455400-37477400	Weak transcription	Ovary	ovary
13	chr17:37455400-37485200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr17:37455400-37495600	Weak transcription	Right Ventricle	heart
15	chr17:37455600-37484800	Weak transcription	Fetal Kidney	kidney
16	chr17:37455800-37495600	Weak transcription	Brain Germinal Matrix	brain
17	chr17:37456200-37499400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr17:37456400-37479800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr17:37457600-37497800	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr17:37458000-37495000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr17:37458400-37472000	Weak transcription	Placenta	Placenta
22	chr17:37458800-37476200	Weak transcription	Fetal Brain Female	brain
23	chr17:37459400-37472200	Weak transcription	K562	blood
24	chr17:37459400-37474200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr17:37459400-37491000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr17:37459400-37495600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr17:37459800-37472400	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr17:37460200-37486800	Weak transcription	Fetal Intestine Large	intestine
29	chr17:37460200-37497600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr17:37460400-37498400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr17:37461000-37474600	Weak transcription	Duodenum Mucosa	Duodenum
32	chr17:37461000-37497400	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr17:37461000-37497600	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr17:37461200-37472600	Weak transcription	Fetal Thymus	thymus
35	chr17:37461200-37480600	Weak transcription	Liver	Liver
36	chr17:37461200-37481800	Weak transcription	Primary hematopoietic stem cells	blood
37	chr17:37461200-37485000	Weak transcription	HepG2	liver
38	chr17:37461200-37495200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr17:37461200-37495400	Weak transcription	Thymus	Thymus
40	chr17:37461200-37515400	Weak transcription	Lung	lung
41	chr17:37461400-37522000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr17:37461800-37485200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr17:37463000-37476000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr17:37463400-37474200	Weak transcription	Adipose Nuclei	Adipose
45	chr17:37463600-37474400	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr17:37463800-37476600	Weak transcription	Colon Smooth Muscle	Colon
47	chr17:37463800-37482000	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr17:37463800-37485000	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr17:37463800-37490800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr17:37463800-37495000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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