Variant report

Variant	esv3327611
Chromosome Location	chr3:136239955-136240665
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551038954	chr3:136239963-136239964	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113030747	chr3:136239985-136239986	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144187628	chr3:136240008-136240009	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371402977	chr3:136240033-136240034	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368385594	chr3:136240036-136240037	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200745716	chr3:136240037-136240038	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372081060	chr3:136240042-136240043	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112837639	chr3:136240045-136240046	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200527952	chr3:136240125-136240126	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566591168	chr3:136240128-136240129	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535245987	chr3:136240171-136240172	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149173809	chr3:136240230-136240231	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113627848	chr3:136240268-136240269	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201772783	chr3:136240288-136240289	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374860556	chr3:136240298-136240299	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185355468	chr3:136240304-136240305	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371261553	chr3:136240316-136240317	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576793683	chr3:136240325-136240326	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545815488	chr3:136240348-136240349	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs13092193	chr3:136240366-136240367	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs6773495	chr3:136240403-136240404	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs542001752	chr3:136240415-136240416	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115597497	chr3:136240462-136240463	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148664017	chr3:136240463-136240464	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535022500	chr3:136240482-136240483	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113510149	chr3:136240492-136240493	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370731898	chr3:136240493-136240494	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113345188	chr3:136240522-136240523	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531042737	chr3:136240548-136240549	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572320657	chr3:136240573-136240574	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551241842	chr3:136240576-136240577	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557540963	chr3:136240577-136240578	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532926384	chr3:136240607-136240608	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs142822145	chr3:136240637-136240638	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566532343	chr3:136240651-136240652	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535524911	chr3:136240660-136240661	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
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
Bipolar disorder	18458673	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
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	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
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18511947	CNVD
Breast cancer	22522925	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:136176400-136314200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr3:136176600-136240000	Weak transcription	HMEC	breast
3	chr3:136176600-136260800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr3:136176800-136266200	Weak transcription	Hela-S3	cervix
5	chr3:136191400-136268000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr3:136192400-136252400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr3:136195400-136241800	Weak transcription	NH-A	brain
8	chr3:136195400-136250400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr3:136195400-136278800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr3:136212200-136323400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr3:136212400-136241600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr3:136212400-136249600	Weak transcription	Lung	lung
13	chr3:136212600-136248200	Weak transcription	Esophagus	oesophagus
14	chr3:136213000-136251000	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr3:136213000-136252200	Weak transcription	Left Ventricle	heart
16	chr3:136213000-136326600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr3:136213200-136246000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr3:136213200-136246600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr3:136214000-136246200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr3:136215600-136246200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr3:136220600-136240000	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr3:136220600-136242800	Weak transcription	GM12878-XiMat	blood
23	chr3:136220600-136266200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr3:136221000-136246400	Weak transcription	Fetal Muscle Leg	muscle
25	chr3:136221200-136241200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:136221200-136251000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr3:136221400-136246400	Weak transcription	Fetal Muscle Trunk	muscle
28	chr3:136221400-136251000	Weak transcription	Liver	Liver
29	chr3:136221600-136246200	Weak transcription	Fetal Intestine Large	intestine
30	chr3:136221600-136251000	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr3:136222000-136246200	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr3:136222000-136246600	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr3:136222200-136251000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr3:136222200-136251200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr3:136222400-136266200	Weak transcription	HSMM	muscle
36	chr3:136227800-136246600	Weak transcription	Fetal Thymus	thymus
37	chr3:136227800-136246600	Weak transcription	Thymus	Thymus
38	chr3:136230000-136246400	Weak transcription	Fetal Stomach	stomach
39	chr3:136230400-136251000	Weak transcription	Duodenum Mucosa	Duodenum
40	chr3:136230600-136247600	Weak transcription	Primary B cells from peripheral blood	blood
41	chr3:136230800-136246200	Weak transcription	Fetal Lung	lung
42	chr3:136232000-136241800	Weak transcription	Osteobl	bone
43	chr3:136232000-136263600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr3:136232200-136246600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr3:136232200-136247000	Weak transcription	Aorta	Aorta
46	chr3:136232400-136251000	Weak transcription	Adipose Nuclei	Adipose
47	chr3:136232400-136255200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr3:136232600-136251000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr3:136232800-136250800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr3:136233000-136241000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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