Variant report

Variant	esv1817147
Chromosome Location	chr12:9542918-9561619
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:3)
LncRNA
region (count:16)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:9536132..9537679-chr12:9542165..9544182,2	MCF-7	breast:
2	chr12:9539959..9542936-chr12:9543055..9546745,3	K562	blood:
3	chr12:9539959..9542936-chr12:9543055..9546745,3	K562	blood:

(count:16 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PZP-12	chr12:9552423-9552580	NONHSAT026816
2	lnc-PZP-12	chr12:9555023-9555151	NONHSAT026823
3	lnc-PZP-12	chr12:9552832-9552922	NONHSAT026817
4	lnc-PZP-12	chr12:9554405-9554455	NONHSAT026823
5	lnc-PZP-12	chr12:9559865-9560050	NONHSAT026823
6	lnc-PZP-12	chr12:9555023-9555152	NONHSAT026817
7	lnc-PZP-12	chr12:9561452-9561545	NONHSAT026823
8	lnc-PZP-12	chr12:9558904-9559128	NONHSAT026823
9	lnc-CLEC2D-3	chr12:9548315-9550213	ENSG00000260423.1
10	lnc-PZP-12	chr12:9549659-9549810	NONHSAT026816
11	lnc-CLEC2D-3	chr12:9547127-9547253	ENSG00000260423.1
12	lnc-PZP-12	chr12:9550978-9551059	NONHSAT026816
13	lnc-PZP-12	chr12:9550211-9550285	NONHSAT026816
14	lnc-PZP-12	chr12:9550951-9551080	NONHSAT026817
15	lnc-CLEC2D-3	chr12:9547127-9547565	NONHSAT026814
16	lnc-PZP-12	chr12:9561452-9561545	NONHSAT026825

No data

Extended variants
information (count: 678 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:678 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114891447	chr12:9542941-9542942	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs202090414	chr12:9543017-9543018	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7959021	chr12:9543069-9543070	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs78621878	chr12:9543077-9543078	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138170200	chr12:9543094-9543095	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547490930	chr12:9543099-9543100	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111784388	chr12:9543134-9543135	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546765464	chr12:9543199-9543200	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200369435	chr12:9543202-9543203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114971706	chr12:9543211-9543212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140090672	chr12:9543301-9543302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373039045	chr12:9543304-9543305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143068239	chr12:9543374-9543375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146142661	chr12:9543378-9543379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566924883	chr12:9543381-9543382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112282258	chr12:9543398-9543399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78916392	chr12:9543420-9543421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs74852979	chr12:9543430-9543431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs111350763	chr12:9543443-9543444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs35614568	chr12:9543464-9543465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs113802058	chr12:9543478-9543479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs9634110	chr12:9543484-9543485	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs112640356	chr12:9543496-9543497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs111831420	chr12:9543523-9543524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374069372	chr12:9543529-9543530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs7138857	chr12:9543569-9543570	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs199672780	chr12:9543570-9543571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs111604954	chr12:9543617-9543618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548064348	chr12:9543633-9543634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs201291193	chr12:9543652-9543653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs201676667	chr12:9543656-9543657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs78344056	chr12:9543659-9543660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567941818	chr12:9543689-9543690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs9634111	chr12:9543690-9543691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs9634112	chr12:9543693-9543694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572574384	chr12:9543739-9543740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139538473	chr12:9543751-9543752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs200535546	chr12:9543868-9543869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs76413549	chr12:9543897-9543898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs370960093	chr12:9543935-9543936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs113280590	chr12:9543959-9543960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs7295231	chr12:9543989-9543990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs182234386	chr12:9544027-9544028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372482283	chr12:9544150-9544151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs140671714	chr12:9544161-9544162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs370183693	chr12:9544163-9544164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs544080020	chr12:9544164-9544165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs561174428	chr12:9544181-9544182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs111857287	chr12:9544188-9544189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs7314167	chr12:9544192-9544193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	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
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Epilepsy	21858020	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
craniofacial dysmorphism	21918468	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Alzheimer''s disease	17160897	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21611746	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD
Obesity	21131291	CNVD
small cell lung cancer	20016488	CNVD
Incontinentia Pigmenti	22033527	CNVD
Oligozoospermia	20877625	CNVD
Sertoli-cell only syndrome	20877625	CNVD
Cancer	21272361	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:293 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9533600-9548800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:9540000-9543200	Strong transcription	Fetal Lung	lung
3	chr12:9540200-9544400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:9540600-9555200	Weak transcription	Fetal Thymus	thymus
5	chr12:9540600-9555400	Weak transcription	Thymus	Thymus
6	chr12:9540800-9548600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr12:9541000-9543400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr12:9541200-9544400	Weak transcription	Ovary	ovary
9	chr12:9541400-9557200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:9541600-9548800	Weak transcription	Spleen	Spleen
11	chr12:9541800-9557400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:9542600-9543000	Enhancers	Fetal Heart	heart
13	chr12:9542600-9548600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:9542800-9543400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:9542800-9545600	Weak transcription	K562	blood
16	chr12:9542800-9555400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr12:9542800-9555600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:9543200-9546200	Weak transcription	Fetal Lung	lung
19	chr12:9543400-9545200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:9543400-9545400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr12:9544000-9545400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr12:9544000-9545600	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr12:9544000-9545800	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr12:9544200-9544800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr12:9544200-9544800	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr12:9544200-9544800	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr12:9544200-9545400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr12:9544200-9545400	Enhancers	Fetal Intestine Large	intestine
29	chr12:9544400-9544600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr12:9544400-9544800	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr12:9544400-9544800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr12:9544400-9544800	Enhancers	H1 Cell Line	embryonic stem cell
33	chr12:9544400-9544800	Enhancers	H9 Cell Line	embryonic stem cell
34	chr12:9544400-9544800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:9544400-9544800	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr12:9544400-9544800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr12:9544400-9544800	Enhancers	Ovary	ovary
38	chr12:9544400-9545200	Enhancers	Fetal Kidney	kidney
39	chr12:9544400-9545400	Enhancers	HepG2	liver
40	chr12:9544600-9544800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:9544600-9545400	Enhancers	Fetal Intestine Small	intestine
42	chr12:9544600-9555400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr12:9544800-9545600	Weak transcription	Ovary	ovary
44	chr12:9544800-9548600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:9544800-9548800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:9544800-9555400	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr12:9544800-9555400	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr12:9544800-9593200	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr12:9545000-9545200	Enhancers	Dnd41	blood
50	chr12:9545200-9548800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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