Variant report

Variant	esv3418558
Chromosome Location	chr12:29700985-29703033
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369547554	chr12:29701018-29701019	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs562483726	chr12:29701028-29701029	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs28408223	chr12:29701060-29701061	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs532930911	chr12:29701085-29701086	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs188508301	chr12:29701102-29701103	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs112076681	chr12:29701116-29701117	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs527536260	chr12:29701124-29701125	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs549160155	chr12:29701132-29701133	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs115960264	chr12:29701167-29701168	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs111594450	chr12:29701198-29701199	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs550630462	chr12:29701214-29701215	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568937027	chr12:29701261-29701262	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs299467	chr12:29701290-29701291	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs571404898	chr12:29701350-29701351	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs191935857	chr12:29701372-29701373	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567149812	chr12:29701396-29701397	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs200664905	chr12:29701474-29701475	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145644129	chr12:29701476-29701477	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs299468	chr12:29701516-29701517	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs111869136	chr12:29701552-29701553	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs111900129	chr12:29701559-29701560	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs182853806	chr12:29701635-29701636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377688578	chr12:29701723-29701724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372797777	chr12:29701743-29701744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200683028	chr12:29701745-29701746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201500634	chr12:29701746-29701747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371998914	chr12:29701747-29701748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374937465	chr12:29701748-29701749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369358260	chr12:29701755-29701756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375775935	chr12:29701756-29701757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372414800	chr12:29701757-29701758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369828867	chr12:29701758-29701759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570377654	chr12:29701759-29701760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374096999	chr12:29701762-29701763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs74802276	chr12:29701768-29701769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs56314308	chr12:29701771-29701772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs56119930	chr12:29701775-29701776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374753281	chr12:29701776-29701777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369817401	chr12:29701778-29701779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555473762	chr12:29701785-29701786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12813064	chr12:29701821-29701822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10734774	chr12:29701832-29701833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs299469	chr12:29701888-29701889	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs10843444	chr12:29701923-29701924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187026834	chr12:29701980-29701981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550693131	chr12:29702001-29702002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73069598	chr12:29702054-29702055	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs533217163	chr12:29702055-29702056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551754365	chr12:29702081-29702082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs299470	chr12:29702185-29702186	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	17133270	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29665400-29725400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr12:29668800-29706000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr12:29668800-29716600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr12:29673600-29708800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:29688200-29705400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:29691000-29705800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr12:29691200-29709200	Weak transcription	HMEC	breast
8	chr12:29693000-29705600	Weak transcription	Hela-S3	cervix
9	chr12:29696400-29706000	Weak transcription	Aorta	Aorta
10	chr12:29696600-29705600	Weak transcription	Osteobl	bone
11	chr12:29697200-29701400	Enhancers	Fetal Muscle Leg	muscle
12	chr12:29697400-29701400	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr12:29698000-29701200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:29698000-29701400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:29698200-29712600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr12:29698600-29701200	Enhancers	NHDF-Ad	bronchial
17	chr12:29698800-29701200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:29698800-29701200	Enhancers	NHLF	lung
19	chr12:29699200-29701000	Enhancers	HSMMtube	muscle
20	chr12:29699200-29701600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr12:29699400-29701000	Enhancers	Liver	Liver
22	chr12:29699400-29701200	Enhancers	Fetal Stomach	stomach
23	chr12:29699400-29704800	Weak transcription	Spleen	Spleen
24	chr12:29699400-29709600	Weak transcription	Left Ventricle	heart
25	chr12:29699400-29715800	Weak transcription	Right Ventricle	heart
26	chr12:29699600-29701000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr12:29699800-29701000	Bivalent Enhancer	Fetal Lung	lung
28	chr12:29699800-29708800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:29700000-29701000	Enhancers	Fetal Kidney	kidney
30	chr12:29700000-29701200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr12:29700000-29701200	Enhancers	Adipose Nuclei	Adipose
32	chr12:29700000-29712000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr12:29700200-29701000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr12:29700200-29701000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:29700200-29712200	Weak transcription	Ovary	ovary
36	chr12:29700400-29701600	Enhancers	Psoas Muscle	Psoas
37	chr12:29700400-29712000	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr12:29700400-29719000	Weak transcription	Fetal Muscle Trunk	muscle
39	chr12:29700400-29734000	Weak transcription	Brain Anterior Caudate	brain
40	chr12:29700600-29701000	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr12:29700600-29708800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr12:29700600-29711400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr12:29700800-29701000	Enhancers	Lung	lung
44	chr12:29700800-29701400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
45	chr12:29700800-29705800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr12:29700800-29707400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr12:29700800-29709000	Weak transcription	HSMM	muscle
48	chr12:29700800-29709600	Weak transcription	Stomach Smooth Muscle	stomach
49	chr12:29701000-29701200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr12:29701000-29704800	Weak transcription	Fetal Kidney	kidney

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