Variant report

Variant	esv3372345
Chromosome Location	chr12:29425485-29430283
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 182 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:182 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536979855	chr12:29425544-29425545	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs150957051	chr12:29425552-29425553	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570361220	chr12:29425564-29425565	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551236828	chr12:29425580-29425581	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2882377	chr12:29425584-29425585	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs553851225	chr12:29425600-29425601	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572165160	chr12:29425683-29425684	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543020430	chr12:29425688-29425689	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543744378	chr12:29425726-29425727	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576886764	chr12:29425759-29425760	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs373170571	chr12:29425771-29425772	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576359646	chr12:29425774-29425775	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543804265	chr12:29425868-29425869	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565576815	chr12:29425871-29425872	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530426351	chr12:29425893-29425894	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140841720	chr12:29425973-29425974	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144595375	chr12:29425995-29425996	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370798831	chr12:29425999-29426000	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529786903	chr12:29426004-29426005	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs2350315	chr12:29426005-29426006	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs560279382	chr12:29426016-29426017	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs200747955	chr12:29426018-29426019	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs369981029	chr12:29426030-29426031	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs7976667	chr12:29426031-29426032	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs558923949	chr12:29426041-29426042	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs549244827	chr12:29426086-29426087	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs11050166	chr12:29426104-29426105	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs528873802	chr12:29426121-29426122	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs570365352	chr12:29426125-29426126	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs114827112	chr12:29426127-29426128	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs552714185	chr12:29426201-29426202	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs565855477	chr12:29426207-29426208	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs550269602	chr12:29426215-29426216	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs555041330	chr12:29426222-29426223	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs576408909	chr12:29426236-29426237	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs543755876	chr12:29426276-29426277	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs568840636	chr12:29426305-29426306	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs577579832	chr12:29426311-29426312	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs539514909	chr12:29426312-29426313	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs377222895	chr12:29426355-29426356	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs541668175	chr12:29426370-29426371	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs11050167	chr12:29426387-29426388	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs74076962	chr12:29426531-29426532	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs374735228	chr12:29426593-29426594	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs563392455	chr12:29426606-29426607	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs116789485	chr12:29426607-29426608	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs141874591	chr12:29426616-29426617	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs75800417	chr12:29426632-29426633	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs74078380	chr12:29426673-29426674	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs11050168	chr12:29426693-29426694	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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
Acute lymphoblastic leukemia	21248843	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
Acute myeloid leukemia	20729466	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

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29408200-29425800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr12:29410000-29425800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:29410000-29426200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr12:29414400-29434000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:29417200-29465400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr12:29419200-29430600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:29419600-29428000	Weak transcription	Fetal Brain Female	brain
8	chr12:29419800-29430400	Weak transcription	Brain Angular Gyrus	brain
9	chr12:29420400-29435000	Weak transcription	HUVEC	blood vessel
10	chr12:29420600-29431600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr12:29421000-29432000	Weak transcription	Adipose Nuclei	Adipose
12	chr12:29421200-29426600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr12:29421400-29425800	Weak transcription	Lung	lung
14	chr12:29421600-29426000	Weak transcription	Fetal Intestine Small	intestine
15	chr12:29421600-29426200	Weak transcription	Fetal Muscle Leg	muscle
16	chr12:29421800-29425800	Weak transcription	Spleen	Spleen
17	chr12:29421800-29426200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr12:29422000-29455600	Weak transcription	Left Ventricle	heart
19	chr12:29422000-29465000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr12:29422200-29425800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr12:29422200-29430400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr12:29422200-29434800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr12:29422400-29434400	Weak transcription	Fetal Kidney	kidney
24	chr12:29422600-29426000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr12:29422800-29427000	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr12:29423000-29426000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr12:29423200-29426200	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr12:29423400-29425600	Strong transcription	Primary T cells from cord blood	blood
29	chr12:29423400-29426200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:29423400-29427000	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr12:29423400-29427600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr12:29423600-29426000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr12:29423600-29427000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr12:29423800-29425800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr12:29423800-29425800	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr12:29423800-29426200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr12:29424000-29426800	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr12:29424400-29427000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr12:29424600-29435200	Weak transcription	Colon Smooth Muscle	Colon
40	chr12:29424800-29426600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr12:29424800-29433400	Weak transcription	Primary hematopoietic stem cells	blood
42	chr12:29424800-29434800	Weak transcription	Dnd41	blood
43	chr12:29425000-29426200	Enhancers	Placenta	Placenta
44	chr12:29425000-29426800	Enhancers	Placenta Amnion	Placenta Amnion
45	chr12:29425000-29427400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr12:29425000-29434400	Weak transcription	Fetal Stomach	stomach
47	chr12:29425200-29427800	Weak transcription	Stomach Smooth Muscle	stomach
48	chr12:29425200-29435600	Weak transcription	Brain Hippocampus Middle	brain
49	chr12:29425400-29427800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr12:29425600-29428400	Weak transcription	Primary T cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links