Variant report

Variant	nsv237526
Chromosome Location	chr3:69264462-69265580
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147045132	chr3:69264489-69264490	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs372368147	chr3:69264495-69264496	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375455422	chr3:69264496-69264497	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192001758	chr3:69264498-69264499	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs36057726	chr3:69264501-69264502	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547063094	chr3:69264524-69264525	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566948212	chr3:69264554-69264555	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369258957	chr3:69264571-69264572	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138370355	chr3:69264588-69264589	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368298079	chr3:69264616-69264617	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557111155	chr3:69264633-69264634	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569056052	chr3:69264666-69264667	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4586811	chr3:69264677-69264678	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs144528002	chr3:69264687-69264688	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184465651	chr3:69264696-69264697	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552986173	chr3:69264748-69264749	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34233715	chr3:69264753-69264754	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs369111171	chr3:69264764-69264765	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7640502	chr3:69264796-69264797	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs188518869	chr3:69264810-69264811	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79046758	chr3:69264872-69264873	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544518991	chr3:69264903-69264904	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561563048	chr3:69264926-69264927	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376380116	chr3:69264945-69264946	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530443586	chr3:69265004-69265005	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547002059	chr3:69265048-69265049	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560494506	chr3:69265075-69265076	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376725566	chr3:69265088-69265089	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552644288	chr3:69265091-69265092	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs202231295	chr3:69265097-69265098	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112602345	chr3:69265120-69265121	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560582626	chr3:69265122-69265123	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548030217	chr3:69265133-69265134	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559223407	chr3:69265162-69265163	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575851404	chr3:69265173-69265174	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141759795	chr3:69265174-69265175	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576772985	chr3:69265196-69265197	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150587068	chr3:69265198-69265199	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556214273	chr3:69265210-69265211	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576102118	chr3:69265227-69265228	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544797847	chr3:69265257-69265258	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561499861	chr3:69265268-69265269	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548114189	chr3:69265271-69265272	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575153760	chr3:69265284-69265285	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7643175	chr3:69265291-69265292	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs560478953	chr3:69265296-69265297	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77475566	chr3:69265304-69265305	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs398105993	chr3:69265312-69265313	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377008116	chr3:69265313-69265314	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369281921	chr3:69265315-69265316	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Breast cancer	21509527	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Prostate cancer	17217626	CNVD
Urothelial cell carcinoma	18451213	CNVD
Alzheimer''s disease	22166940	CNVD
Mental retardation	20848658	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Cancer	20164919	CNVD

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69232000-69275600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr3:69242400-69281600	Weak transcription	Brain Germinal Matrix	brain
3	chr3:69242600-69268800	Weak transcription	Spleen	Spleen
4	chr3:69244000-69264800	Weak transcription	Fetal Brain Female	brain
5	chr3:69246200-69266800	Weak transcription	HSMM	muscle
6	chr3:69250000-69269200	Weak transcription	Thymus	Thymus
7	chr3:69250000-69272400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr3:69250000-69281600	Weak transcription	Esophagus	oesophagus
9	chr3:69250200-69268800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr3:69250200-69268800	Weak transcription	Ovary	ovary
11	chr3:69250200-69286000	Weak transcription	Colonic Mucosa	Colon
12	chr3:69250400-69264800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:69250400-69268400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr3:69250400-69280000	Weak transcription	Fetal Kidney	kidney
15	chr3:69253000-69266400	Weak transcription	Small Intestine	intestine
16	chr3:69253000-69297600	Weak transcription	Gastric	stomach
17	chr3:69253400-69277400	Weak transcription	Left Ventricle	heart
18	chr3:69253600-69266600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr3:69253600-69267600	Weak transcription	Placenta	Placenta
20	chr3:69254000-69280800	Weak transcription	Pancreas	Pancrea
21	chr3:69254000-69286000	Weak transcription	Right Ventricle	heart
22	chr3:69254600-69299000	Weak transcription	Fetal Brain Male	brain
23	chr3:69256600-69269200	Weak transcription	Adipose Nuclei	Adipose
24	chr3:69259400-69266600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr3:69260000-69285800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr3:69261000-69269800	Weak transcription	Fetal Muscle Leg	muscle
27	chr3:69261000-69272800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr3:69261000-69280400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr3:69262000-69265600	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr3:69262200-69266200	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr3:69262200-69274200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr3:69262400-69264600	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr3:69262400-69276000	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr3:69262600-69286200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr3:69262800-69265000	Strong transcription	Fetal Thymus	thymus
36	chr3:69262800-69265200	Strong transcription	Fetal Intestine Small	intestine
37	chr3:69262800-69265200	Strong transcription	Fetal Stomach	stomach
38	chr3:69263000-69264800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr3:69263000-69265400	Strong transcription	Fetal Intestine Large	intestine
40	chr3:69263000-69266200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr3:69263000-69269000	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr3:69263000-69273800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr3:69263000-69274200	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr3:69263200-69265000	Strong transcription	Fetal Lung	lung
45	chr3:69263200-69265200	Strong transcription	Liver	Liver
46	chr3:69263200-69274000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr3:69263200-69274200	Strong transcription	Dnd41	blood
48	chr3:69263200-69274400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr3:69263400-69275000	Weak transcription	Stomach Mucosa	stomach
50	chr3:69263600-69273800	Strong transcription	Primary monocytes fromperipheralblood	blood

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