Variant report

Variant	esv3341498
Chromosome Location	chr3:150942536-150943683
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9817216	chr3:150942578-150942579	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs563647607	chr3:150942641-150942642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs9817380	chr3:150942653-150942654	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs534284331	chr3:150942665-150942666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192696113	chr3:150942689-150942690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs111465725	chr3:150942693-150942694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549460099	chr3:150942742-150942743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536991936	chr3:150942764-150942765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs150829537	chr3:150942793-150942794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573784766	chr3:150942803-150942804	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183382369	chr3:150942841-150942842	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139240382	chr3:150942862-150942863	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373576030	chr3:150942885-150942886	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572584213	chr3:150942941-150942942	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561775033	chr3:150942967-150942968	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541393650	chr3:150942983-150942984	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564373024	chr3:150943002-150943003	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs75166985	chr3:150943007-150943008	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188315723	chr3:150943027-150943028	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557229133	chr3:150943038-150943039	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs12636178	chr3:150943077-150943078	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs9821749	chr3:150943085-150943086	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs572083641	chr3:150943096-150943097	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs371051908	chr3:150943102-150943103	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs539319456	chr3:150943103-150943104	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558981538	chr3:150943106-150943107	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs34157543	chr3:150943111-150943112	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs370541701	chr3:150943127-150943128	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs551352211	chr3:150943194-150943195	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs9821937	chr3:150943208-150943209	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs59961357	chr3:150943228-150943229	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs550573709	chr3:150943268-150943269	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs76340288	chr3:150943301-150943302	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs549758191	chr3:150943314-150943315	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs536414321	chr3:150943358-150943359	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553210105	chr3:150943367-150943368	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs7649855	chr3:150943381-150943382	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs145691814	chr3:150943394-150943395	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147741407	chr3:150943418-150943419	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs543818828	chr3:150943420-150943421	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563792365	chr3:150943429-150943430	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs574003614	chr3:150943435-150943436	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542766151	chr3:150943436-150943437	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs559565018	chr3:150943437-150943438	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs192023511	chr3:150943466-150943467	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs528163770	chr3:150943474-150943475	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs536788503	chr3:150943480-150943481	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs551216728	chr3:150943525-150943526	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs565015541	chr3:150943538-150943539	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs9289834	chr3:150943539-150943540	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21364760	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	16773561	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Uveal melanoma	20484589	CNVD
Breast cancer	21509527	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150878000-150946000	Weak transcription	Placenta	Placenta
2	chr3:150928800-150943800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:150928800-150946200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr3:150928800-150952800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:150928800-150953000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:150929000-150943200	Weak transcription	Psoas Muscle	Psoas
7	chr3:150929000-150945200	Weak transcription	Primary B cells from peripheral blood	blood
8	chr3:150929200-150945400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr3:150932200-150942800	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr3:150932600-150946200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr3:150935400-150946200	Weak transcription	Aorta	Aorta
12	chr3:150935600-150944000	Weak transcription	Fetal Stomach	stomach
13	chr3:150935600-150945200	Weak transcription	Fetal Muscle Leg	muscle
14	chr3:150935600-150945400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr3:150937600-150944000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr3:150937600-150944200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr3:150937800-150945200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr3:150938200-150945800	Weak transcription	Fetal Heart	heart
19	chr3:150938600-150948600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr3:150939600-150945200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr3:150939800-150945200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr3:150940000-150943000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr3:150940000-150945400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr3:150940000-150945400	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr3:150940000-150945400	Weak transcription	Fetal Intestine Small	intestine
26	chr3:150940400-150945800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr3:150940600-150943800	Weak transcription	Primary B cells from cord blood	blood
28	chr3:150941400-150945200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr3:150941600-150943600	Weak transcription	Hela-S3	cervix
30	chr3:150941600-150948000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr3:150941800-150945400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr3:150942000-150945200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr3:150942000-150946800	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr3:150942200-150944200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr3:150942200-150946000	Enhancers	Liver	Liver
36	chr3:150942200-150947000	Enhancers	Primary T cells from cord blood	blood
37	chr3:150942200-150948600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr3:150942400-150942600	Enhancers	Brain Anterior Caudate	brain
39	chr3:150942400-150943000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr3:150942400-150943000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr3:150942400-150943800	Weak transcription	NHLF	lung
42	chr3:150942400-150944200	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr3:150942400-150944600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr3:150942600-150945200	Weak transcription	Brain Anterior Caudate	brain
45	chr3:150942800-150943000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr3:150942800-150943000	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr3:150942800-150945000	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr3:150942800-150945400	Enhancers	NH-A	brain
49	chr3:150942800-150946600	Enhancers	Primary T cells fromperipheralblood	blood
50	chr3:150942800-150947000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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