Variant report

Variant	nsv973020
Chromosome Location	chr12:9163929-9182709
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr12:9180462-9180660	GM12878	blood:	n/a	n/a
2	CEBPB	chr12:9168156-9168179	HepG2	liver:	n/a	n/a
3	CTCF	chr12:9166343-9166378	LNCaP	prostate:	n/a	n/a
4	CTCF	chr12:9171538-9171593	LNCaP	prostate:	n/a	n/a
5	CTCF	chr12:9165080-9165230	SAEC	small airway:	n/a	n/a
6	CTCF	chr12:9164640-9164790	GM12867	blood:	n/a	n/a
7	JUND	chr12:9175235-9175527	HepG2	liver:	n/a	n/a
8	JUND	chr12:9165889-9166089	HepG2	liver:	n/a	n/a
9	POLR2A	chr12:9180427-9180434	Gliobla	brain:	n/a	n/a
10	POLR2A	chr12:9171850-9172032	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr12:9173214-9173257	MCF10A-Er-Src	breast:	n/a	n/a
12	RUNX3	chr12:9180333-9180577	GM12878	blood:	n/a	n/a
13	RUNX3	chr12:9180276-9180566	GM12878	blood:	n/a	n/a
14	SPI1	chr12:9177264-9177932	HL-60	blood:	n/a	n/a
15	SPI1	chr12:9177360-9177796	HL-60	blood:	n/a	n/a
16	ZNF143	chr12:9175867-9175919	H1-hESC	embryonic stem cell:	n/a	n/a
17	ZNF274	chr12:9174571-9175262	NT2-D1	testis:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:9064573..9067189-chr12:9176082..9178403,2	K562	blood:
2	chr12:9101626..9103314-chr12:9176948..9179841,2	MCF-7	breast:
3	chr12:9157659..9159439-chr12:9161450..9164436,2	K562	blood:

No data

Variant related genes	Relation type
HNRNPA1P34	TF binding region
ENSG00000139187	chromatin interactions
ENSG00000003056	chromatin interactions
ENSG00000111752	chromatin interactions

Extended variants
information (count: 412 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:412 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117686571	chr12:9163977-9163978	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs1805670	chr12:9164026-9164027	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs1805714	chr12:9164113-9164114	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs181091946	chr12:9164140-9164141	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141482771	chr12:9164188-9164189	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186453622	chr12:9164217-9164218	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189326813	chr12:9164312-9164313	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553921351	chr12:9164326-9164327	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12809367	chr12:9164355-9164356	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs539750447	chr12:9164409-9164410	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs114298721	chr12:9164451-9164452	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113090048	chr12:9164477-9164478	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34236568	chr12:9164491-9164492	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs2377677	chr12:9164498-9164499	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs144469895	chr12:9164549-9164550	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs151201561	chr12:9164561-9164562	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562086030	chr12:9164567-9164568	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs180975212	chr12:9164588-9164589	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541992119	chr12:9164741-9164742	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74775042	chr12:9164771-9164772	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201470506	chr12:9164895-9164896	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531234127	chr12:9165045-9165046	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550899681	chr12:9165068-9165069	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369577085	chr12:9165119-9165120	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140262123	chr12:9165207-9165208	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150345918	chr12:9165231-9165232	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs76727290	chr12:9165254-9165255	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532904282	chr12:9165309-9165310	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186180679	chr12:9165455-9165456	Strong transcription Genic enhancers ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs138243524	chr12:9165465-9165466	Strong transcription Genic enhancers ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs574226319	chr12:9165493-9165494	Strong transcription Genic enhancers ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs191084751	chr12:9165513-9165514	Strong transcription Genic enhancers ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566548716	chr12:9165641-9165642	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs141293094	chr12:9165719-9165720	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs371649738	chr12:9165723-9165724	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs6487550	chr12:9165777-9165778	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs118101331	chr12:9165852-9165853	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544163146	chr12:9166028-9166029	ZNF genes & repeats Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs114751341	chr12:9166056-9166057	ZNF genes & repeats Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs144995917	chr12:9166057-9166058	ZNF genes & repeats Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs35464313	chr12:9166163-9166164	ZNF genes & repeats Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559939704	chr12:9166171-9166172	ZNF genes & repeats Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs182857089	chr12:9166236-9166237	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs35180194	chr12:9166330-9166331	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2159959	chr12:9166408-9166409	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs562736761	chr12:9166421-9166422	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185708779	chr12:9166561-9166562	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11611436	chr12:9166700-9166701	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2159960	chr12:9166841-9166842	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs548432001	chr12:9167075-9167076	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
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
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	21293372	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:206 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9133800-9164600	Weak transcription	Psoas Muscle	Psoas
2	chr12:9133800-9170200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr12:9142400-9168000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr12:9150000-9164000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:9152400-9167600	Weak transcription	Left Ventricle	heart
6	chr12:9159600-9168400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr12:9160800-9164800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:9160800-9165400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr12:9161000-9164200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr12:9161000-9165600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:9161000-9166200	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr12:9161000-9166400	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr12:9161200-9165600	Genic enhancers	Primary T cells fromperipheralblood	blood
14	chr12:9161400-9164400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr12:9161400-9166200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr12:9161400-9166400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr12:9161600-9164800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
18	chr12:9162000-9165800	Strong transcription	Adipose Nuclei	Adipose
19	chr12:9162000-9166200	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr12:9162200-9164200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr12:9162200-9164200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr12:9162200-9165800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr12:9162600-9164600	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr12:9162600-9167200	Weak transcription	Brain Anterior Caudate	brain
25	chr12:9163400-9165600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr12:9163600-9166000	Strong transcription	Primary T cells from cord blood	blood
27	chr12:9163600-9166200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
28	chr12:9163800-9165600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr12:9163800-9166600	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr12:9164000-9165400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr12:9164200-9164600	Strong transcription	Stomach Smooth Muscle	stomach
32	chr12:9164200-9165000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr12:9164200-9165200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr12:9164400-9166600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
35	chr12:9164600-9164800	Enhancers	Psoas Muscle	Psoas
36	chr12:9164600-9165600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
37	chr12:9164600-9166200	Weak transcription	Stomach Smooth Muscle	stomach
38	chr12:9164800-9165200	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr12:9164800-9168000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr12:9165000-9165200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr12:9165000-9165800	Weak transcription	Brain Hippocampus Middle	brain
42	chr12:9165200-9165400	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr12:9165200-9165400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr12:9165400-9165600	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr12:9165400-9166200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr12:9165400-9167800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr12:9165600-9166000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr12:9165600-9166400	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
49	chr12:9165600-9166400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
50	chr12:9165600-9166800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood

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