Variant report

Variant	esv3492985
Chromosome Location	chr12:119440693-119442817
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 73 )

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	rs4767756	chr12:119440701-119440702	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs11069227	chr12:119440702-119440703	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542503538	chr12:119440758-119440759	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191054760	chr12:119440808-119440809	Bivalent Enhancer Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs77702149	chr12:119440816-119440817	Bivalent Enhancer Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs4767757	chr12:119440825-119440826	Bivalent Enhancer Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs564052532	chr12:119440838-119440839	Bivalent Enhancer Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs76557417	chr12:119440849-119440850	Bivalent Enhancer Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs141251151	chr12:119440850-119440851	Bivalent Enhancer Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559678751	chr12:119440866-119440867	Bivalent Enhancer Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs529153640	chr12:119440974-119440975	Bivalent Enhancer Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548913553	chr12:119441004-119441005	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs150341357	chr12:119441011-119441012	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550038946	chr12:119441067-119441068	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531441899	chr12:119441068-119441069	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7297741	chr12:119441071-119441072	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs570880493	chr12:119441074-119441075	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539909122	chr12:119441096-119441097	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs142410045	chr12:119441103-119441104	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs114519482	chr12:119441168-119441169	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs2393465	chr12:119441212-119441213	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs549056095	chr12:119441236-119441237	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182882168	chr12:119441252-119441253	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs575871677	chr12:119441260-119441261	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538074989	chr12:119441325-119441326	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558294756	chr12:119441337-119441338	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs145981378	chr12:119441350-119441351	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs76797788	chr12:119441456-119441457	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs534582604	chr12:119441488-119441489	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559812830	chr12:119441503-119441504	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573342108	chr12:119441509-119441510	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs115273043	chr12:119441554-119441555	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs139811258	chr12:119441573-119441574	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs10851061	chr12:119441638-119441639	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs551304468	chr12:119441682-119441683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149252019	chr12:119441685-119441686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533470748	chr12:119441738-119441739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547154502	chr12:119441761-119441762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs144381485	chr12:119441846-119441847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148787545	chr12:119441851-119441852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142467729	chr12:119441868-119441869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs151287515	chr12:119441892-119441893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369443063	chr12:119441924-119441925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538490030	chr12:119441946-119441947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187220579	chr12:119442009-119442010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577862812	chr12:119442012-119442013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534117271	chr12:119442033-119442034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553485126	chr12:119442107-119442108	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372957972	chr12:119442116-119442117	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542280513	chr12:119442124-119442125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Sudden cardiac death	19188705	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119427800-119440800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:119428000-119443000	Weak transcription	Fetal Brain Male	brain
3	chr12:119437200-119444400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:119439200-119441400	Weak transcription	Fetal Muscle Leg	muscle
5	chr12:119440400-119441600	Genic enhancers	Fetal Brain Female	brain
6	chr12:119440600-119440800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr12:119440600-119443800	Enhancers	Brain Germinal Matrix	brain
8	chr12:119440600-119444800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr12:119440800-119441000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
10	chr12:119440800-119441000	Enhancers	H1 Cell Line	embryonic stem cell
11	chr12:119440800-119441000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr12:119440800-119446800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:119440800-119448000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:119441000-119442000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr12:119441000-119442000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr12:119441000-119442800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr12:119441000-119443200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:119441000-119445200	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr12:119441000-119446800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr12:119441200-119443000	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr12:119441200-119443000	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr12:119441400-119441600	Enhancers	Fetal Muscle Leg	muscle
23	chr12:119441400-119441800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr12:119441400-119442800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr12:119441400-119443000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr12:119441600-119442400	Weak transcription	Fetal Brain Female	brain
27	chr12:119441600-119442400	Weak transcription	Fetal Muscle Leg	muscle
28	chr12:119441800-119442000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr12:119442000-119442400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr12:119442000-119442600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr12:119442000-119442800	Enhancers	H1 Cell Line	embryonic stem cell
32	chr12:119442000-119444200	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr12:119442200-119443000	Enhancers	Fetal Lung	lung
34	chr12:119442200-119443200	Enhancers	H9 Cell Line	embryonic stem cell
35	chr12:119442400-119444600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr12:119442400-119444800	Enhancers	Fetal Brain Female	brain
37	chr12:119442400-119446400	Enhancers	Fetal Muscle Leg	muscle
38	chr12:119442600-119444200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr12:119442600-119444600	Enhancers	Fetal Stomach	stomach
40	chr12:119442800-119444000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr12:119442800-119444200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr12:119442800-119444600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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