Variant report

Variant	esv3390525
Chromosome Location	chr3:90330362-90357160
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1901 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:1901 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529023765	chr3:90330400-90330401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs200150937	chr3:90330430-90330431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550359399	chr3:90330436-90330437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574002809	chr3:90330443-90330444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371883649	chr3:90330464-90330465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181758316	chr3:90330473-90330474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559677075	chr3:90330483-90330484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs75133538	chr3:90330503-90330504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184885181	chr3:90330518-90330519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565546129	chr3:90330529-90330530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569045755	chr3:90330550-90330551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs531243038	chr3:90330552-90330553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs9821024	chr3:90330554-90330555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569717109	chr3:90330572-90330573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528969187	chr3:90330579-90330580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551724677	chr3:90330594-90330595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565712961	chr3:90330597-90330598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534786072	chr3:90330607-90330608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557547296	chr3:90330609-90330610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs77140727	chr3:90330610-90330611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs189930722	chr3:90330613-90330614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149103732	chr3:90330614-90330615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs142240038	chr3:90330616-90330617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs553387896	chr3:90330648-90330649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs76326364	chr3:90330666-90330667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566801512	chr3:90330680-90330681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs574013475	chr3:90330684-90330685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs181068075	chr3:90330712-90330713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553404848	chr3:90330716-90330717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546911481	chr3:90330725-90330726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs75195926	chr3:90330726-90330727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs80048232	chr3:90330732-90330733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs554536521	chr3:90330740-90330741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs76566805	chr3:90330752-90330753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs545580732	chr3:90330761-90330762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs79307827	chr3:90330762-90330763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs117715980	chr3:90330763-90330764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs75641757	chr3:90330768-90330769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs544964166	chr3:90330789-90330790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563256612	chr3:90330799-90330800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs528908066	chr3:90330805-90330806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs151141361	chr3:90330811-90330812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs185111016	chr3:90330816-90330817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528182399	chr3:90330820-90330821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs551112977	chr3:90330826-90330827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs542894190	chr3:90330843-90330844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs140143768	chr3:90330881-90330882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531914867	chr3:90330896-90330897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs74959415	chr3:90330912-90330913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs555773678	chr3:90330937-90330938	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
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
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	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
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Soft tissue tumor	16732325	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	CNVD
Lung cancer	19547694	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	18458336	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:90330400-90332200	Enhancers	Dnd41	blood
2	chr3:90330600-90332000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr3:90331200-90333600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr3:90332800-90333400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:90333400-90333600	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:90336000-90338000	ZNF genes & repeats	Liver	Liver
7	chr3:90336800-90338000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
8	chr3:90337600-90338000	ZNF genes & repeats	Brain Hippocampus Middle	brain
9	chr3:90337800-90342800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:90339800-90340600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
11	chr3:90340000-90342600	ZNF genes & repeats	Liver	Liver
12	chr3:90340400-90340600	ZNF genes & repeats	Dnd41	blood
13	chr3:90341400-90345200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr3:90341800-90343000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
15	chr3:90342000-90342800	Active TSS	Right Atrium	heart
16	chr3:90342400-90342800	Active TSS	Aorta	Aorta
17	chr3:90342800-90345200	Weak transcription	Right Atrium	heart
18	chr3:90343800-90347400	Enhancers	Dnd41	blood
19	chr3:90344800-90346400	Weak transcription	Psoas Muscle	Psoas
20	chr3:90345200-90345400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr3:90345200-90345600	Active TSS	Right Atrium	heart
22	chr3:90346400-90347200	Active TSS	Psoas Muscle	Psoas
23	chr3:90347400-90347600	Weak transcription	Dnd41	blood
24	chr3:90347600-90348800	ZNF genes & repeats	Dnd41	blood
25	chr3:90349800-90350600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
26	chr3:90350000-90350400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
27	chr3:90350000-90350400	ZNF genes & repeats	Adipose Nuclei	Adipose
28	chr3:90350000-90350400	Active TSS	Aorta	Aorta
29	chr3:90350200-90350400	ZNF genes & repeats	Primary T cells from cord blood	blood
30	chr3:90350200-90350600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:90351400-90352400	Enhancers	Dnd41	blood
32	chr3:90354000-90355800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
33	chr3:90354200-90355800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr3:90354400-90354800	ZNF genes & repeats	HUVEC	blood vessel
35	chr3:90354600-90354800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
36	chr3:90354600-90354800	Enhancers	Hela-S3	cervix
37	chr3:90354600-90355000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
38	chr3:90354600-90355000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
39	chr3:90354600-90355000	ZNF genes & repeats	Brain Hippocampus Middle	brain
40	chr3:90354600-90355000	Active TSS	Right Atrium	heart
41	chr3:90354600-90355000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
42	chr3:90355400-90356000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
43	chr3:90356000-90356400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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