Variant report

Variant	esv14182
Chromosome Location	chr12:32330884-32335632
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:32329357..32331933-chr12:32333033..32336522,3	K562	blood:
2	chr12:32323730..32326324-chr12:32330475..32332808,2	MCF-7	breast:
3	chr12:32329357..32331933-chr12:32333033..32336522,3	K562	blood:
4	chr12:32331693..32333915-chr12:32344800..32346339,2	MCF-7	breast:
5	chr12:32330686..32332341-chr12:32334381..32336776,2	MCF-7	breast:
6	chr12:32330903..32333479-chr12:32337570..32339472,2	MCF-7	breast:
7	chr12:32331886..32334489-chr12:32336141..32338880,2	MCF-7	breast:
8	chr12:32330686..32332341-chr12:32334381..32336776,2	MCF-7	breast:

No data

Extended variants
information (count: 160 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:160 , 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	rs149656688	chr12:32330912-32330913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs537585882	chr12:32330935-32330936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs115364281	chr12:32330978-32330979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541618132	chr12:32330991-32330992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs114098527	chr12:32331140-32331141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs114639501	chr12:32331150-32331151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115860506	chr12:32331183-32331184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs16919420	chr12:32331195-32331196	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs79573287	chr12:32331212-32331213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113424274	chr12:32331216-32331217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540252412	chr12:32331234-32331235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186243303	chr12:32331244-32331245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370683929	chr12:32331250-32331251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530071240	chr12:32331260-32331261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535021253	chr12:32331270-32331271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374776722	chr12:32331287-32331288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115578280	chr12:32331306-32331307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553664349	chr12:32331346-32331347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529635130	chr12:32331356-32331357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575229577	chr12:32331370-32331371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376737874	chr12:32331397-32331398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549310641	chr12:32331400-32331401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs367946078	chr12:32331418-32331419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542415915	chr12:32331519-32331520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530606086	chr12:32331600-32331601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557557981	chr12:32331601-32331602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11051834	chr12:32331669-32331670	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs114391744	chr12:32331682-32331683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539394981	chr12:32331731-32331732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1144723	chr12:32331748-32331749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148422352	chr12:32331753-32331754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543542821	chr12:32331772-32331773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191063706	chr12:32331789-32331790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141558805	chr12:32331830-32331831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575127094	chr12:32331836-32331837	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544014278	chr12:32331924-32331925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73076221	chr12:32331941-32331942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs367686997	chr12:32331949-32331950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372349141	chr12:32331953-32331954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375294033	chr12:32331959-32331960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534449996	chr12:32331965-32331966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368480073	chr12:32331973-32331974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs60994230	chr12:32331974-32331975	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs145164687	chr12:32331995-32331996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531932764	chr12:32331996-32331997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1144724	chr12:32332132-32332133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531915377	chr12:32332163-32332164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189240468	chr12:32332180-32332181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs17587443	chr12:32332194-32332195	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs377675492	chr12:32332254-32332255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	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
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Chordoma	18071362	CNVD
Cancer	20164920	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32269000-32340200	Weak transcription	Dnd41	blood
2	chr12:32293600-32369200	Weak transcription	Thymus	Thymus
3	chr12:32299400-32334800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:32299600-32346200	Weak transcription	Primary B cells from peripheral blood	blood
5	chr12:32300200-32336600	Weak transcription	A549	lung
6	chr12:32303000-32336600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr12:32309400-32353400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:32309600-32336400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:32309600-32346000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:32309600-32351400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:32309600-32352200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:32309800-32336400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:32309800-32336600	Weak transcription	HMEC	breast
14	chr12:32313200-32336600	Weak transcription	NH-A	brain
15	chr12:32313400-32331400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:32313400-32369400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:32315000-32333000	Weak transcription	Right Atrium	heart
18	chr12:32315400-32346000	Weak transcription	Primary B cells from cord blood	blood
19	chr12:32315600-32336600	Weak transcription	HSMM	muscle
20	chr12:32316400-32334600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:32319800-32331200	Weak transcription	Fetal Brain Female	brain
22	chr12:32319800-32340400	Weak transcription	Fetal Intestine Small	intestine
23	chr12:32319800-32343600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr12:32321600-32331600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr12:32323600-32373800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr12:32324200-32331200	Weak transcription	HSMMtube	muscle
27	chr12:32325400-32331000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr12:32325400-32334000	Weak transcription	Fetal Brain Male	brain
29	chr12:32325400-32347000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr12:32325600-32331600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:32325600-32334600	Weak transcription	Brain Hippocampus Middle	brain
32	chr12:32325800-32331000	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr12:32325800-32331200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr12:32325800-32331200	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr12:32325800-32331200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr12:32325800-32331200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr12:32325800-32333400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr12:32326000-32351400	Weak transcription	Osteobl	bone
39	chr12:32326000-32353200	Weak transcription	Ovary	ovary
40	chr12:32326200-32338400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr12:32327600-32337800	Weak transcription	Brain Cingulate Gyrus	brain
42	chr12:32328600-32337800	Weak transcription	Aorta	Aorta
43	chr12:32329600-32331000	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr12:32330800-32332000	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr12:32330800-32332600	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr12:32330800-32334000	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr12:32331000-32332400	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr12:32331000-32333800	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr12:32331000-32334000	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr12:32331200-32331600	Enhancers	Fetal Muscle Leg	muscle

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