Variant report

Variant	esv1833375
Chromosome Location	chr12:9548715-9555023
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:0)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CLEC2D-3	chr12:9548315-9550213	ENSG00000260423.1
2	lnc-PZP-12	chr12:9554405-9554455	NONHSAT026823
3	lnc-PZP-12	chr12:9555023-9555151	NONHSAT026823
4	lnc-PZP-12	chr12:9550978-9551059	NONHSAT026816
5	lnc-PZP-12	chr12:9550951-9551080	NONHSAT026817
6	lnc-PZP-12	chr12:9555023-9555152	NONHSAT026817
7	lnc-PZP-12	chr12:9552832-9552922	NONHSAT026817
8	lnc-PZP-12	chr12:9552423-9552580	NONHSAT026816
9	lnc-PZP-12	chr12:9549659-9549810	NONHSAT026816
10	lnc-PZP-12	chr12:9550211-9550285	NONHSAT026816

No data

Extended variants
information (count: 133 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:133 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199519395	chr12:9548796-9548797	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs192831428	chr12:9548808-9548809	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs558248704	chr12:9548815-9548816	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs61914444	chr12:9548853-9548854	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs192383571	chr12:9548857-9548858	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs372714022	chr12:9548901-9548902	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs78201839	chr12:9548908-9548909	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs60249715	chr12:9549006-9549007	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs143258110	chr12:9549019-9549020	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs114301534	chr12:9549041-9549042	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs11050701	chr12:9549072-9549073	Weak transcription Strong transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs150472064	chr12:9549076-9549077	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs369065147	chr12:9549145-9549146	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs117538028	chr12:9549204-9549205	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs111417962	chr12:9549230-9549231	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs181528206	chr12:9549256-9549257	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs186222950	chr12:9549271-9549272	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs113613915	chr12:9549312-9549313	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs56366134	chr12:9549325-9549326	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs7955922	chr12:9549369-9549370	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs369656649	chr12:9549389-9549390	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs556164774	chr12:9549467-9549468	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs372998170	chr12:9549501-9549502	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs200086714	chr12:9549538-9549539	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs11308535	chr12:9549579-9549580	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs199552850	chr12:9549590-9549591	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs143873624	chr12:9549597-9549598	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs148600707	chr12:9549606-9549607	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs112252404	chr12:9549635-9549636	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs142226984	chr12:9549638-9549639	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs199561857	chr12:9549647-9549648	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs548300776	chr12:9549682-9549683	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs368045566	chr12:9549704-9549705	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs150790006	chr12:9549738-9549739	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs1063869	chr12:9549770-9549771	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs1063868	chr12:9549776-9549777	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs1063867	chr12:9549780-9549781	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs1132871	chr12:9549793-9549794	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs115287993	chr12:9549801-9549802	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	mRNA abundance
40	rs190202922	chr12:9549852-9549853	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs182846072	chr12:9549863-9549864	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs548055456	chr12:9549868-9549869	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs570002202	chr12:9549915-9549916	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs200022227	chr12:9549925-9549926	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs535786572	chr12:9550050-9550051	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs188278343	chr12:9550133-9550134	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs190623763	chr12:9550168-9550169	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs139386271	chr12:9550169-9550170	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs373437744	chr12:9550257-9550258	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs112982179	chr12:9550440-9550441	Weak transcription Strong transcription	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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9533600-9548800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:9540600-9555200	Weak transcription	Fetal Thymus	thymus
3	chr12:9540600-9555400	Weak transcription	Thymus	Thymus
4	chr12:9541400-9557200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:9541600-9548800	Weak transcription	Spleen	Spleen
6	chr12:9541800-9557400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:9542800-9555400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr12:9542800-9555600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:9544600-9555400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:9544800-9548800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:9544800-9555400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr12:9544800-9555400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr12:9544800-9593200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr12:9545200-9548800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:9545200-9550800	Weak transcription	Dnd41	blood
16	chr12:9545400-9573800	Weak transcription	Fetal Intestine Small	intestine
17	chr12:9545400-9575600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:9545600-9555600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr12:9545800-9555600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr12:9546000-9548800	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr12:9546000-9555600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr12:9546200-9559400	Weak transcription	A549	lung
23	chr12:9547000-9558600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr12:9547200-9556800	Weak transcription	Fetal Stomach	stomach
25	chr12:9547400-9556600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr12:9547400-9557400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr12:9547800-9550200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr12:9548600-9549200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr12:9548600-9549200	Enhancers	Fetal Intestine Large	intestine
30	chr12:9548600-9549400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:9548600-9550000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:9548800-9549000	Enhancers	Spleen	Spleen
33	chr12:9548800-9549200	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr12:9548800-9549400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:9548800-9549400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr12:9548800-9549400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr12:9549200-9551600	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr12:9549200-9555400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr12:9549400-9555200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr12:9549400-9555600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr12:9549400-9558800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:9549400-9559200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr12:9549400-9564000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:9550000-9550400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr12:9550400-9550800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr12:9550800-9551400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr12:9550800-9551400	Strong transcription	Dnd41	blood
48	chr12:9551400-9551600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr12:9551400-9557000	Weak transcription	Dnd41	blood
50	chr12:9551600-9554600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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