Variant report

Variant	nsv975622
Chromosome Location	chr12:9264452-9266844
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:9265907..9267822-chr12:9274659..9276392,2	MCF-7	breast:
2	chr12:9248855..9251571-chr12:9264323..9266629,2	MCF-7	breast:
3	chr12:9265762..9267378-chr12:9267657..9270590,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PZP-6	chr12:9265956-9266139	NONHSAT026387
2	lnc-PZP-6	chr12:9265235-9265285	NONHSAT026387

Variant related genes	Relation type
ENSG00000175899	chromatin interactions

Extended variants
information (count: 76 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535298774	chr12:9264454-9264455	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs115360875	chr12:9264710-9264711	Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
3	rs373071810	chr12:9264734-9264735	Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs200572417	chr12:9264759-9264760	Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs374407122	chr12:9264761-9264762	Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs368366089	chr12:9264788-9264789	Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs201769751	chr12:9264798-9264799	Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs367589745	chr12:9264821-9264822	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371507368	chr12:9264830-9264831	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs377203186	chr12:9264832-9264833	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs370096500	chr12:9264835-9264836	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs372694287	chr12:9264861-9264862	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs74060571	chr12:9264867-9264868	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs226383	chr12:9264946-9264947	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs369597786	chr12:9264992-9264993	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs373266452	chr12:9265000-9265001	Genic enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs56202499	chr12:9265016-9265017	Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs369090397	chr12:9265022-9265023	Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs199872729	chr12:9265031-9265032	Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs267603719	chr12:9265032-9265033	Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201901298	chr12:9265043-9265044	Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs114851022	chr12:9265099-9265100	Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs370915527	chr12:9265148-9265149	Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs373451396	chr12:9265172-9265173	Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs377203090	chr12:9265173-9265174	Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188171177	chr12:9265241-9265242	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Strong transcription Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs146414372	chr12:9265267-9265268	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Strong transcription Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs149115645	chr12:9265269-9265270	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Strong transcription Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs56256934	chr12:9265319-9265320	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs74060573	chr12:9265337-9265338	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs148267422	chr12:9265345-9265346	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs140347944	chr12:9265407-9265408	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs199562108	chr12:9265481-9265482	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs193047804	chr12:9265482-9265483	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs185756332	chr12:9265503-9265504	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs146981372	chr12:9265634-9265635	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs557878998	chr12:9265638-9265639	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577936486	chr12:9265640-9265641	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs11463805	chr12:9265701-9265702	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs34953995	chr12:9265702-9265703	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs397849946	chr12:9265714-9265715	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs375829088	chr12:9265715-9265716	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs368782137	chr12:9265717-9265718	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372083994	chr12:9265737-9265738	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs373611581	chr12:9265738-9265739	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs35445064	chr12:9265786-9265787	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs189933878	chr12:9265787-9265788	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs2477	chr12:9265796-9265797	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs2302666	chr12:9265864-9265865	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs138403949	chr12:9265892-9265893	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:182 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9218200-9266200	Weak transcription	Fetal Kidney	kidney
2	chr12:9219200-9266000	Weak transcription	Esophagus	oesophagus
3	chr12:9232200-9264600	Weak transcription	Brain Hippocampus Middle	brain
4	chr12:9235200-9265800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr12:9237200-9265200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:9238600-9265800	Strong transcription	Skeletal Muscle Female	skeletal muscle
7	chr12:9239600-9265000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:9240800-9267600	Weak transcription	Fetal Intestine Large	intestine
9	chr12:9243000-9274800	Weak transcription	Small Intestine	intestine
10	chr12:9243400-9265400	Weak transcription	Fetal Muscle Leg	muscle
11	chr12:9244200-9265200	Weak transcription	Brain Anterior Caudate	brain
12	chr12:9245000-9266000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr12:9246200-9265200	Weak transcription	Fetal Brain Male	brain
14	chr12:9246600-9266000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr12:9246600-9268600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr12:9249400-9268800	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr12:9249600-9267600	Weak transcription	HSMMtube	muscle
18	chr12:9250600-9268200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:9250600-9268600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr12:9251000-9266000	Weak transcription	NHLF	lung
21	chr12:9251200-9264800	Strong transcription	Stomach Smooth Muscle	stomach
22	chr12:9251400-9268200	Weak transcription	Pancreas	Pancrea
23	chr12:9252200-9265200	Weak transcription	Colonic Mucosa	Colon
24	chr12:9252200-9268800	Weak transcription	Primary T cells from cord blood	blood
25	chr12:9252600-9264800	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr12:9252600-9268400	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr12:9252600-9268400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr12:9254200-9264800	Weak transcription	Duodenum Mucosa	Duodenum
29	chr12:9254200-9265800	Weak transcription	Gastric	stomach
30	chr12:9254200-9267600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr12:9254800-9265800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr12:9255200-9266000	Weak transcription	Fetal Stomach	stomach
33	chr12:9257000-9265800	Weak transcription	Brain Substantia Nigra	brain
34	chr12:9257800-9264800	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr12:9258200-9265400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr12:9258400-9267600	Weak transcription	Placenta	Placenta
37	chr12:9260000-9265200	Weak transcription	Psoas Muscle	Psoas
38	chr12:9260200-9267600	Weak transcription	Colon Smooth Muscle	Colon
39	chr12:9260400-9264800	Weak transcription	Right Ventricle	heart
40	chr12:9261200-9265400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:9261400-9264800	Weak transcription	Aorta	Aorta
42	chr12:9261400-9265000	Weak transcription	Spleen	Spleen
43	chr12:9261400-9265800	Weak transcription	Ovary	ovary
44	chr12:9261400-9266600	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr12:9261600-9265400	Weak transcription	Lung	lung
46	chr12:9261800-9266600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:9262000-9265800	Weak transcription	Fetal Heart	heart
48	chr12:9262600-9264600	Weak transcription	Left Ventricle	heart
49	chr12:9262800-9264600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr12:9262800-9264800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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