Variant report

Variant	esv3395048
Chromosome Location	chr12:9554210-9557058
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PZP-12	chr12:9555023-9555152	NONHSAT026817
2	lnc-PZP-12	chr12:9555023-9555151	NONHSAT026823
3	lnc-PZP-12	chr12:9554405-9554455	NONHSAT026823

Extended variants
information (count: 161 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:161 , 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	rs371709772	chr12:9554321-9554322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200683828	chr12:9554373-9554374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112409633	chr12:9554514-9554515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184588835	chr12:9554523-9554524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572405228	chr12:9554553-9554554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372122038	chr12:9554605-9554606	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs375263396	chr12:9554663-9554664	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs572555101	chr12:9554714-9554715	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs75523812	chr12:9554723-9554724	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs147665795	chr12:9554725-9554726	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs75900815	chr12:9554726-9554727	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs76465790	chr12:9554748-9554749	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs374995998	chr12:9554764-9554765	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs202229640	chr12:9554806-9554807	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs200428040	chr12:9554886-9554887	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs201563400	chr12:9554915-9554916	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs199562811	chr12:9554954-9554955	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs373544091	chr12:9554981-9554982	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs376651204	chr12:9555020-9555021	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs201838140	chr12:9555042-9555043	Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
21	rs369061136	chr12:9555067-9555068	Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
22	rs12821647	chr12:9555110-9555111	Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
23	rs374009125	chr12:9555175-9555176	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs72475431	chr12:9555185-9555186	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs58903301	chr12:9555196-9555197	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs199717489	chr12:9555201-9555202	Weak transcription Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs397966133	chr12:9555202-9555203	Weak transcription Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs370807108	chr12:9555215-9555216	Weak transcription Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs190320366	chr12:9555217-9555218	Weak transcription Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs182048805	chr12:9555222-9555223	Weak transcription Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs549280023	chr12:9555229-9555230	Weak transcription Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs12827151	chr12:9555268-9555269	Weak transcription Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs57895476	chr12:9555273-9555274	Weak transcription Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs80271285	chr12:9555276-9555277	Weak transcription Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs74425093	chr12:9555279-9555280	Weak transcription Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs74435792	chr12:9555281-9555282	Weak transcription Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs12821317	chr12:9555293-9555294	Weak transcription Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs77786813	chr12:9555300-9555301	Weak transcription Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs74977347	chr12:9555302-9555303	Weak transcription Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs75063242	chr12:9555304-9555305	Weak transcription Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs181629857	chr12:9555307-9555308	Weak transcription Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs74961759	chr12:9555311-9555312	Weak transcription Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs75848864	chr12:9555314-9555315	Weak transcription Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs12827182	chr12:9555319-9555320	Weak transcription Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	mRNA abundance
45	rs570442316	chr12:9555332-9555333	Weak transcription Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs111675453	chr12:9555341-9555342	Weak transcription Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs71045270	chr12:9555344-9555345	Weak transcription Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs12820107	chr12:9555351-9555352	Weak transcription Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs12820109	chr12:9555354-9555355	Weak transcription Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs60950852	chr12:9555369-9555370	Weak transcription Transcr. at gene 5' and 3' Active TSS	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:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9540600-9555200	Weak transcription	Fetal Thymus	thymus
2	chr12:9540600-9555400	Weak transcription	Thymus	Thymus
3	chr12:9541400-9557200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:9541800-9557400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:9542800-9555400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr12:9542800-9555600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:9544600-9555400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:9544800-9555400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr12:9544800-9555400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr12:9544800-9593200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr12:9545400-9573800	Weak transcription	Fetal Intestine Small	intestine
12	chr12:9545400-9575600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:9545600-9555600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr12:9545800-9555600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr12:9546000-9555600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr12:9546200-9559400	Weak transcription	A549	lung
17	chr12:9547000-9558600	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr12:9547200-9556800	Weak transcription	Fetal Stomach	stomach
19	chr12:9547400-9556600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:9547400-9557400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr12:9549200-9555400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr12:9549400-9555200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr12:9549400-9555600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:9549400-9558800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:9549400-9559200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr12:9549400-9564000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:9551400-9557000	Weak transcription	Dnd41	blood
28	chr12:9551600-9554600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:9554600-9555800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr12:9555200-9556200	Active TSS	Right Ventricle	heart
31	chr12:9555200-9557600	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr12:9555400-9555600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr12:9555400-9555600	Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr12:9555400-9555600	Enhancers	Colonic Mucosa	Colon
35	chr12:9555400-9555600	Flanking Active TSS	Thymus	Thymus
36	chr12:9555400-9555800	Active TSS	H1 Cell Line	embryonic stem cell
37	chr12:9555400-9555800	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr12:9555400-9555800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr12:9555400-9555800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr12:9555400-9555800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr12:9555400-9555800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
42	chr12:9555400-9555800	Transcr. at gene 5' and 3'	Fetal Muscle Trunk	muscle
43	chr12:9555400-9555800	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
44	chr12:9555400-9555800	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr12:9555400-9556000	Enhancers	Primary B cells from peripheral blood	blood
46	chr12:9555400-9556000	Enhancers	Primary T cells fromperipheralblood	blood
47	chr12:9555600-9555800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:9555600-9555800	Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr12:9555600-9555800	Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr12:9555600-9555800	Active TSS	iPS-20b Cell Line	embryonic stem cell

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