Variant report

Variant	esv18160
Chromosome Location	chr12:121340524-121341166
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545571356	chr12:121340552-121340553	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
2	rs118055784	chr12:121340571-121340572	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
3	rs147170362	chr12:121340586-121340587	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs547458094	chr12:121340597-121340598	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs1151849	chr12:121340599-121340600	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs189618723	chr12:121340660-121340661	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs183398884	chr12:121340695-121340696	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs75922909	chr12:121340745-121340746	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs117679209	chr12:121340749-121340750	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs148212637	chr12:121340794-121340795	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs1105416	chr12:121340799-121340800	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs569861593	chr12:121340800-121340801	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs186316405	chr12:121340854-121340855	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs548575663	chr12:121340857-121340858	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs190779259	chr12:121340884-121340885	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs574497146	chr12:121341001-121341002	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs537045475	chr12:121341056-121341057	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs558973347	chr12:121341057-121341058	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs187106561	chr12:121341071-121341072	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs192880393	chr12:121341073-121341074	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs113992016	chr12:121341075-121341076	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs372377400	chr12:121341076-121341077	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs533019583	chr12:121341080-121341081	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs71076682	chr12:121341081-121341082	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs545300771	chr12:121341138-121341139	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs142765995	chr12:121341149-121341150	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs184601122	chr12:121341155-121341156	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs565158627	chr12:121341158-121341159	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs200351307	chr12:121341164-121341165	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs71076683	chr12:121341165-121341166	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs66511068	chr12:121341166-121341167	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
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
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	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	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:228 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121323600-121340600	Weak transcription	Aorta	Aorta
2	chr12:121332000-121340600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:121332400-121340600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:121338000-121340600	Enhancers	Small Intestine	intestine
5	chr12:121338200-121340600	Enhancers	Primary T cells fromperipheralblood	blood
6	chr12:121338400-121340600	Enhancers	Primary B cells from peripheral blood	blood
7	chr12:121338800-121340600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr12:121339400-121340600	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr12:121339400-121340600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr12:121339400-121340600	Flanking Active TSS	GM12878-XiMat	blood
11	chr12:121339400-121341200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr12:121339600-121340600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:121339600-121340600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr12:121339600-121340600	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr12:121339800-121340600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr12:121339800-121340600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:121339800-121340600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
18	chr12:121339800-121340600	Enhancers	Pancreas	Pancrea
19	chr12:121339800-121340600	Flanking Active TSS	HMEC	breast
20	chr12:121339800-121340800	Flanking Active TSS	Brain Anterior Caudate	brain
21	chr12:121339800-121340800	Flanking Active TSS	Brain Cingulate Gyrus	brain
22	chr12:121339800-121340800	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr12:121339800-121340800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
24	chr12:121339800-121341000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr12:121339800-121341000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:121339800-121341000	Flanking Active TSS	Brain Hippocampus Middle	brain
27	chr12:121339800-121341000	Flanking Active TSS	Fetal Brain Male	brain
28	chr12:121339800-121341000	Enhancers	Placenta Amnion	Placenta Amnion
29	chr12:121339800-121341200	Flanking Active TSS	Primary T cells from cord blood	blood
30	chr12:121339800-121341200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr12:121339800-121341400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr12:121339800-121341400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:121339800-121341400	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr12:121340000-121340600	Enhancers	Stomach Mucosa	stomach
35	chr12:121340000-121340600	Weak transcription	Spleen	Spleen
36	chr12:121340000-121340600	Transcr. at gene 5' and 3'	Hela-S3	cervix
37	chr12:121340000-121340800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr12:121340000-121340800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr12:121340000-121340800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
40	chr12:121340000-121341000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
41	chr12:121340000-121341200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
42	chr12:121340000-121341400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr12:121340000-121341400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr12:121340000-121341400	Flanking Active TSS	Dnd41	blood
45	chr12:121340000-121342400	Active TSS	H1 Cell Line	embryonic stem cell
46	chr12:121340000-121342400	Active TSS	Fetal Intestine Large	intestine
47	chr12:121340000-121342800	Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr12:121340000-121342800	Active TSS	NHDF-Ad	bronchial
49	chr12:121340200-121340600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr12:121340200-121340600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum

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