Variant report

Variant	esv3391629
Chromosome Location	chr12:20866256-20908722
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:20886731..20889299-chr12:20891417..20893433,2	K562	blood:
2	chr12:20856502..20859066-chr12:20865440..20867058,2	MCF-7	breast:
3	chr12:20886731..20889299-chr12:20891417..20893433,2	K562	blood:

Extended variants
information (count: 1347 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:1347 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553964568	chr12:20866270-20866271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570971071	chr12:20866283-20866284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113136300	chr12:20866284-20866285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10770710	chr12:20866290-20866291	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs111315416	chr12:20866300-20866301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12310432	chr12:20866375-20866376	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs139349722	chr12:20866380-20866381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544071734	chr12:20866410-20866411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149618674	chr12:20866445-20866446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574273713	chr12:20866448-20866449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146144282	chr12:20866529-20866530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559990608	chr12:20866561-20866562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532187726	chr12:20866582-20866583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541875516	chr12:20866637-20866638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545592011	chr12:20866638-20866639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562471108	chr12:20866684-20866685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531356108	chr12:20866690-20866691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140181459	chr12:20866711-20866712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs966864	chr12:20866736-20866737	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs527884127	chr12:20866740-20866741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73085062	chr12:20866813-20866814	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs187811959	chr12:20866817-20866818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551431649	chr12:20866847-20866848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555504029	chr12:20866900-20866901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556401454	chr12:20866987-20866988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12818243	chr12:20867029-20867030	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs115301847	chr12:20867065-20867066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554437385	chr12:20867094-20867095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574441647	chr12:20867142-20867143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35749043	chr12:20867195-20867196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11045403	chr12:20867196-20867197	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs193189911	chr12:20867236-20867237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143120301	chr12:20867305-20867306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545857059	chr12:20867439-20867440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370300081	chr12:20867462-20867463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562600174	chr12:20867464-20867465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576091374	chr12:20867494-20867495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185136455	chr12:20867499-20867500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188445897	chr12:20867611-20867612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527945122	chr12:20867622-20867623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372684363	chr12:20867637-20867638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146662242	chr12:20867638-20867639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564673142	chr12:20867741-20867742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10841596	chr12:20867754-20867755	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs542677710	chr12:20867759-20867760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11045404	chr12:20867764-20867765	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs11045405	chr12:20867825-20867826	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs148414684	chr12:20867861-20867862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113469588	chr12:20867871-20867872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565747579	chr12:20867888-20867889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
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
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	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 promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21364760	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD
Schizophrenia	21346763	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20860000-20881200	Weak transcription	Brain Hippocampus Middle	brain
2	chr12:20868800-20869400	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr12:20868800-20869400	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr12:20868800-20869600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr12:20868800-20869600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr12:20868800-20870200	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr12:20869000-20869600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr12:20869200-20869600	Enhancers	H1 Cell Line	embryonic stem cell
9	chr12:20869200-20869800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr12:20869200-20869800	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr12:20869800-20870200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr12:20870200-20870600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr12:20870200-20874800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr12:20871600-20871800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr12:20872200-20872400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:20874800-20875800	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr12:20875000-20875400	Enhancers	Hela-S3	cervix
18	chr12:20875000-20875400	Enhancers	HUVEC	blood vessel
19	chr12:20875000-20875600	Enhancers	Dnd41	blood
20	chr12:20884800-20885400	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr12:20885400-20885800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr12:20885800-20886600	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr12:20892600-20892800	ZNF genes & repeats	Aorta	Aorta
24	chr12:20892600-20892800	Enhancers	Pancreas	Pancrea
25	chr12:20892800-20922200	Weak transcription	Aorta	Aorta
26	chr12:20902200-20905600	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr12:20903200-20903800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr12:20903600-20903800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:20903600-20904200	Enhancers	Brain Germinal Matrix	brain
30	chr12:20903800-20904800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr12:20904400-20904600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:20904800-20905000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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