Variant report

Variant	esv3414211
Chromosome Location	chr12:9557085-9559583
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	chr12:9558904-9559128	NONHSAT026823

Extended variants
information (count: 157 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:157 , 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	rs559222662	chr12:9557121-9557122	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
2	rs144540660	chr12:9557122-9557123	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
3	rs191291020	chr12:9557126-9557127	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs116955000	chr12:9557187-9557188	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs377532097	chr12:9557206-9557207	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs75836549	chr12:9557243-9557244	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs79593855	chr12:9557247-9557248	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs76655007	chr12:9557249-9557250	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs145448205	chr12:9557282-9557283	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	mRNA abundance
10	rs79050883	chr12:9557287-9557288	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs80038428	chr12:9557288-9557289	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs377310494	chr12:9557290-9557291	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs550781143	chr12:9557292-9557293	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs147669247	chr12:9557298-9557299	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs183874885	chr12:9557312-9557313	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs189391288	chr12:9557316-9557317	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs76265690	chr12:9557334-9557335	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs76581120	chr12:9557336-9557337	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs80237452	chr12:9557342-9557343	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs79389737	chr12:9557343-9557344	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs77621531	chr12:9557348-9557349	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs369384769	chr12:9557349-9557350	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs77665813	chr12:9557350-9557351	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs74329071	chr12:9557356-9557357	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs75338444	chr12:9557361-9557362	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs78221681	chr12:9557362-9557363	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs77658090	chr12:9557372-9557373	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs75673879	chr12:9557375-9557376	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs78753979	chr12:9557389-9557390	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs140674939	chr12:9557390-9557391	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs193289902	chr12:9557392-9557393	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs372865776	chr12:9557416-9557417	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
33	rs116742386	chr12:9557425-9557426	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
34	rs28635447	chr12:9557439-9557440	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
35	rs369556563	chr12:9557454-9557455	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
36	rs372545130	chr12:9557500-9557501	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
37	rs185140912	chr12:9557502-9557503	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
38	rs11050744	chr12:9557506-9557507	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	mRNA abundance
39	rs7398215	chr12:9557540-9557541	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
40	rs181747119	chr12:9557542-9557543	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
41	rs186357333	chr12:9557544-9557545	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
42	rs147963881	chr12:9557555-9557556	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
43	rs12296426	chr12:9557567-9557568	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
44	rs142694888	chr12:9557568-9557569	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	mRNA abundance
45	rs113374583	chr12:9557605-9557606	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
46	rs10771675	chr12:9557611-9557612	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
47	rs541656237	chr12:9557619-9557620	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
48	rs556798460	chr12:9557627-9557628	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
49	rs111328901	chr12:9557629-9557630	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
50	rs145307358	chr12:9557633-9557634	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	mRNA abundance

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:136 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9541400-9557200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr12:9541800-9557400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr12:9544800-9593200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:9545400-9573800	Weak transcription	Fetal Intestine Small	intestine
5	chr12:9545400-9575600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:9546200-9559400	Weak transcription	A549	lung
7	chr12:9547000-9558600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr12:9547400-9557400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:9549400-9558800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:9549400-9559200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr12:9549400-9564000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:9555200-9557600	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:9555600-9559400	Weak transcription	Colonic Mucosa	Colon
14	chr12:9555800-9557400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:9555800-9557400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr12:9555800-9557800	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:9555800-9558400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr12:9556200-9558400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr12:9556400-9557400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:9556600-9557200	ZNF genes & repeats	Fetal Thymus	thymus
21	chr12:9556600-9557800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:9556800-9557400	ZNF genes & repeats	Fetal Stomach	stomach
23	chr12:9557000-9557600	ZNF genes & repeats	Dnd41	blood
24	chr12:9557200-9557600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr12:9557200-9557800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr12:9557200-9557800	Bivalent/Poised TSS	Right Ventricle	heart
27	chr12:9557400-9557600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:9557400-9557600	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
29	chr12:9557400-9557800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
30	chr12:9557400-9557800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:9557400-9557800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr12:9557400-9557800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr12:9557400-9558400	Weak transcription	Fetal Stomach	stomach
34	chr12:9557400-9558600	Strong transcription	Fetal Muscle Trunk	muscle
35	chr12:9557400-9559200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr12:9557400-9559400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr12:9557400-9564200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:9557600-9557800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
39	chr12:9557600-9557800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr12:9557600-9557800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
41	chr12:9557600-9558600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr12:9557600-9559800	Enhancers	Fetal Brain Male	brain
43	chr12:9557600-9564200	Weak transcription	Dnd41	blood
44	chr12:9557600-9572200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr12:9557800-9558600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr12:9557800-9558800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr12:9557800-9558800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr12:9557800-9558800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr12:9557800-9559000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr12:9557800-9559400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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