Variant report

Variant	nsv975503
Chromosome Location	chr12:63148884-63150580
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr12:63150460-63151280	HUVEC	blood vessel:	n/a	chr12:63150652-63150659 chr12:63150999-63151009
2	HEY1	chr12:63148985-63149172	K562	blood:	n/a	n/a
3	POLR2A	chr12:63149014-63149149	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr12:63149746-63150041	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr12:63149706-63150076	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr12:63149009-63149157	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr12:63149711-63150069	GM12878	blood:	n/a	n/a
8	POLR2A	chr12:63149029-63149166	GM12878	blood:	n/a	n/a
9	POLR2A	chr12:63149661-63150061	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr12:63149618-63149709	HepG2	liver:	n/a	n/a
11	POLR2A	chr12:63149465-63149609	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr12:63149357-63149615	HepG2	liver:	n/a	n/a
13	POLR2A	chr12:63148948-63149169	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr12:63149019-63150138	K562	blood:	n/a	n/a
15	POLR2A	chr12:63149310-63149338	HepG2	liver:	n/a	n/a
16	POLR2A	chr12:63149393-63150107	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
GAPDHP44	TF binding region

Extended variants
information (count: 70 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531050450	chr12:63148945-63148946	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs192713867	chr12:63148959-63148960	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs114043428	chr12:63148963-63148964	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs539811238	chr12:63148964-63148965	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs558607097	chr12:63148979-63148980	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs565949118	chr12:63149004-63149005	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs184521944	chr12:63149039-63149040	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114769478	chr12:63149044-63149045	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs342140	chr12:63149164-63149165	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs2029720	chr12:63149213-63149214	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs189308579	chr12:63149238-63149239	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs140726000	chr12:63149241-63149242	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs576807230	chr12:63149242-63149243	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs545765250	chr12:63149287-63149288	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs34835653	chr12:63149290-63149291	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs145843538	chr12:63149300-63149301	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs116830644	chr12:63149302-63149303	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs2029721	chr12:63149344-63149345	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs181932058	chr12:63149347-63149348	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs531087316	chr12:63149351-63149352	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs570813919	chr12:63149372-63149373	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs35225098	chr12:63149397-63149398	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs564582820	chr12:63149415-63149416	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs377170520	chr12:63149507-63149508	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs116286628	chr12:63149514-63149515	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs58312844	chr12:63149526-63149527	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs398055631	chr12:63149530-63149531	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs184429932	chr12:63149607-63149608	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs566724317	chr12:63149610-63149611	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs189137874	chr12:63149611-63149612	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs548038394	chr12:63149630-63149631	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs567952008	chr12:63149638-63149639	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs74098821	chr12:63149676-63149677	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs556810558	chr12:63149684-63149685	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs576858375	chr12:63149694-63149695	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs138753739	chr12:63149699-63149700	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs116692921	chr12:63149700-63149701	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs572830186	chr12:63149716-63149717	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs542550166	chr12:63149754-63149755	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs141317644	chr12:63149771-63149772	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs181857432	chr12:63149777-63149778	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs544775717	chr12:63149801-63149802	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564488228	chr12:63149804-63149805	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186421012	chr12:63149805-63149806	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146994568	chr12:63149846-63149847	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560545535	chr12:63149869-63149870	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs59925181	chr12:63149933-63149934	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138036442	chr12:63149943-63149944	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149525790	chr12:63150016-63150017	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370328802	chr12:63150100-63150101	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Wilms tumour	21544195	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
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Metanephric adenoma	20802469	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Breast cancer	21364760	CNVD
Man infertility	21397064	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63096600-63157000	Weak transcription	Pancreas	Pancrea
2	chr12:63123000-63152000	Weak transcription	Gastric	stomach
3	chr12:63126000-63149200	Weak transcription	Lung	lung
4	chr12:63126200-63155600	Weak transcription	Aorta	Aorta
5	chr12:63130200-63153200	Weak transcription	Fetal Intestine Large	intestine
6	chr12:63134200-63150600	Weak transcription	Right Atrium	heart
7	chr12:63134400-63160600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:63138800-63149200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:63139400-63150400	Weak transcription	Left Ventricle	heart
10	chr12:63140000-63149200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr12:63140000-63150800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:63140000-63168600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr12:63143400-63153200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr12:63143800-63155600	Weak transcription	Psoas Muscle	Psoas
15	chr12:63145000-63149200	Weak transcription	Fetal Stomach	stomach
16	chr12:63145000-63151600	Weak transcription	Fetal Kidney	kidney
17	chr12:63145200-63150800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:63145400-63151200	Strong transcription	HepG2	liver
19	chr12:63145400-63160600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr12:63145600-63152200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr12:63145800-63149200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr12:63145800-63149200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr12:63145800-63150600	Weak transcription	Brain Angular Gyrus	brain
24	chr12:63145800-63151200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr12:63145800-63151600	Weak transcription	Brain Hippocampus Middle	brain
26	chr12:63145800-63152000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr12:63145800-63152200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr12:63145800-63153000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr12:63145800-63154000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr12:63145800-63154600	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr12:63145800-63155400	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr12:63145800-63160600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr12:63145800-63160800	Weak transcription	Brain Substantia Nigra	brain
34	chr12:63145800-63163400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr12:63145800-63169400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr12:63147000-63150800	Weak transcription	A549	lung
37	chr12:63147800-63150600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr12:63148000-63150000	Strong transcription	Fetal Intestine Small	intestine
39	chr12:63148400-63149400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr12:63148600-63149400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr12:63149000-63155600	Weak transcription	Fetal Muscle Trunk	muscle
42	chr12:63149200-63149600	ZNF genes & repeats	Lung	lung
43	chr12:63149200-63149800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr12:63149200-63149800	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr12:63149200-63149800	ZNF genes & repeats	Fetal Stomach	stomach
46	chr12:63149200-63150000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
47	chr12:63149200-63150000	Strong transcription	Primary hematopoietic stem cells	blood
48	chr12:63149400-63149600	Enhancers	Spleen	Spleen
49	chr12:63149400-63150800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr12:63149400-63152000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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