Variant report

Variant	esv3364469
Chromosome Location	chr12:57886335-57888783
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr12:57888501-57888574	HepG2	liver:	n/a	n/a
2	JUND	chr12:57888449-57888637	HepG2	liver:	n/a	n/a
3	NR2F2	chr12:57888314-57888646	K562	blood:	n/a	n/a
4	NR3C1	chr12:57888443-57888613	A549	lung:	n/a	n/a
5	PAX5	chr12:57886094-57886728	GM12878	blood:	n/a	n/a
6	PAX5	chr12:57886243-57886581	GM12878	blood:	n/a	n/a
7	POLR2A	chr12:57886713-57886895	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr12:57886587-57886823	HepG2	liver:	n/a	n/a
9	POLR2A	chr12:57886367-57886767	K562	blood:	n/a	n/a
10	POLR2A	chr12:57886402-57886894	GM12878	blood:	n/a	n/a
11	POLR2A	chr12:57886415-57886857	K562	blood:	n/a	n/a
12	POLR2A	chr12:57888729-57889416	K562	blood:	n/a	n/a
13	POLR2A	chr12:57886708-57886795	MCF-7	breast:	n/a	n/a
14	POLR2A	chr12:57886302-57886537	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr12:57886183-57886649	SK-N-MC	brain:	n/a	n/a
16	POLR2A	chr12:57886413-57886711	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr12:57886485-57886525	HUVEC	blood vessel:	n/a	n/a
18	POLR2A	chr12:57886554-57886888	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr12:57886080-57887075	PFSK-1	brain:	n/a	n/a
20	POLR2A	chr12:57886406-57886876	PFSK-1	brain:	n/a	n/a
21	POLR2A	chr12:57886567-57886859	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr12:57886088-57886974	HepG2	liver:	n/a	n/a
23	POLR2A	chr12:57886487-57887039	K562	blood:	n/a	n/a
24	POLR2A	chr12:57886316-57886336	K562	blood:	n/a	n/a
25	USF2	chr12:57886726-57886889	HepG2	liver:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57879869..57888452-chr12:57905809..57918310,36	K562	blood:
2	chr12:57884095..57887084-chr12:58129295..58131672,2	MCF-7	breast:
3	chr12:57632290..57634209-chr12:57884185..57886954,2	K562	blood:
4	chr12:57885093..57886878-chr12:57890724..57893946,3	MCF-7	breast:
5	chr12:57872773..57878513-chr12:57879040..57886839,8	K562	blood:
6	chr12:57881044..57886958-chr12:57910925..57918058,16	MCF-7	breast:
7	chr12:57856147..57857823-chr12:57885493..57887032,2	K562	blood:
8	chr12:57885427..57888291-chr12:57914860..57916782,2	MCF-7	breast:
9	chr12:57881812..57883506-chr12:57883625..57886800,4	MCF-7	breast:
10	chr12:57885435..57886938-chr12:57894343..57895911,2	MCF-7	breast:
11	chr12:57879207..57888227-chr12:57906247..57918451,36	K562	blood:

No data

Variant related genes	Relation type
ARHGAP9	TF binding region
ENSG00000135439	chromatin interactions
ENSG00000123329	chromatin interactions
ENSG00000208028	chromatin interactions
ENSG00000264046	chromatin interactions
ENSG00000166986	chromatin interactions
ENSG00000175197	chromatin interactions
ENSG00000166987	chromatin interactions
ENSG00000111087	chromatin interactions

Extended variants
information (count: 146 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:146 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs202139696	chr12:57886339-57886340	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
2	rs373794724	chr12:57886346-57886347	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
3	rs538937820	chr12:57886411-57886412	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs138995913	chr12:57886440-57886441	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs144796604	chr12:57886453-57886454	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs566243461	chr12:57886459-57886460	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
7	rs149758196	chr12:57886475-57886476	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
8	rs58931225	chr12:57886489-57886490	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
9	rs367723409	chr12:57886494-57886495	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
10	rs201570711	chr12:57886495-57886496	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs67410914	chr12:57886497-57886498	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs2672571	chr12:57886609-57886610	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs575970464	chr12:57886612-57886613	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs7314803	chr12:57886647-57886648	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs543395693	chr12:57886661-57886662	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs558898059	chr12:57886807-57886808	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs376775628	chr12:57886829-57886830	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs577247243	chr12:57886853-57886854	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs541328258	chr12:57886918-57886919	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs559310755	chr12:57886935-57886936	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs181548645	chr12:57886953-57886954	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs541620491	chr12:57886958-57886959	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs186159622	chr12:57887018-57887019	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs149879673	chr12:57887073-57887074	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs575921357	chr12:57887075-57887076	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs531608310	chr12:57887096-57887097	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs564786711	chr12:57887103-57887104	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs549804759	chr12:57887123-57887124	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs111287174	chr12:57887128-57887129	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs67907939	chr12:57887131-57887132	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs111257978	chr12:57887132-57887133	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs59488863	chr12:57887136-57887137	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs111812045	chr12:57887139-57887140	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs11172236	chr12:57887153-57887154	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs377146313	chr12:57887160-57887161	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs58353609	chr12:57887173-57887174	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs370521816	chr12:57887181-57887182	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs58533497	chr12:57887186-57887187	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs58057273	chr12:57887187-57887188	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs374285857	chr12:57887194-57887195	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs368452440	chr12:57887196-57887197	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs55826438	chr12:57887201-57887202	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs55985221	chr12:57887204-57887205	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs55964032	chr12:57887206-57887207	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs55742554	chr12:57887212-57887213	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs370917353	chr12:57887215-57887216	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs55813010	chr12:57887220-57887221	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs529983907	chr12:57887222-57887223	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs371397140	chr12:57887224-57887225	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs57440582	chr12:57887233-57887234	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Thoracic aortic aneurysm	21092924	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
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Bladder cancer	21909424	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Autism	20531469	CNVD
Rhabdomyosarcoma	16790082	CNVD
Renal cell carcinoma	18765545	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21138945	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	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
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glycogen storage disease	18421352	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:252 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57882800-57905800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:57883000-57910600	Weak transcription	Right Atrium	heart
3	chr12:57883200-57887000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
4	chr12:57883200-57887000	Strong transcription	H9 Cell Line	embryonic stem cell
5	chr12:57883200-57887000	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr12:57883200-57887000	Strong transcription	Primary B cells from cord blood	blood
7	chr12:57883200-57887000	Strong transcription	Primary hematopoietic stem cells	blood
8	chr12:57883200-57887000	Strong transcription	Colonic Mucosa	Colon
9	chr12:57883200-57887000	Strong transcription	Fetal Intestine Large	intestine
10	chr12:57883200-57887000	Strong transcription	Fetal Lung	lung
11	chr12:57883200-57887000	Strong transcription	Placenta	Placenta
12	chr12:57883200-57890000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr12:57883200-57893600	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr12:57883200-57900600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:57883200-57900600	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr12:57883200-57900800	Strong transcription	Thymus	Thymus
17	chr12:57883200-57902400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:57883200-57911200	Strong transcription	Fetal Intestine Small	intestine
19	chr12:57883400-57886600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:57883400-57886600	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr12:57883400-57886800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr12:57883400-57886800	Strong transcription	Brain Angular Gyrus	brain
23	chr12:57883400-57886800	Strong transcription	Spleen	Spleen
24	chr12:57883400-57887000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:57883400-57887000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
26	chr12:57883400-57887000	Strong transcription	Liver	Liver
27	chr12:57883400-57887000	Strong transcription	Brain Anterior Caudate	brain
28	chr12:57883400-57887000	Strong transcription	Brain Substantia Nigra	brain
29	chr12:57883400-57887000	Strong transcription	Colon Smooth Muscle	Colon
30	chr12:57883400-57887000	Strong transcription	Duodenum Mucosa	Duodenum
31	chr12:57883400-57887000	Strong transcription	Esophagus	oesophagus
32	chr12:57883400-57887000	Strong transcription	Fetal Stomach	stomach
33	chr12:57883400-57887000	Strong transcription	Left Ventricle	heart
34	chr12:57883400-57887000	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr12:57883400-57887000	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr12:57883400-57887000	Strong transcription	Right Ventricle	heart
37	chr12:57883400-57887000	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr12:57883400-57887000	Strong transcription	Skeletal Muscle Male	skeletal muscle
39	chr12:57883400-57887000	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr12:57883400-57887000	Strong transcription	Stomach Smooth Muscle	stomach
41	chr12:57883400-57887000	Strong transcription	HUVEC	blood vessel
42	chr12:57883400-57887000	Strong transcription	NH-A	brain
43	chr12:57883400-57887000	Strong transcription	NHDF-Ad	bronchial
44	chr12:57883400-57887000	Strong transcription	NHEK	skin
45	chr12:57883400-57887000	Strong transcription	Osteobl	bone
46	chr12:57883400-57887200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr12:57883400-57887200	Strong transcription	Fetal Muscle Leg	muscle
48	chr12:57883400-57887400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr12:57883400-57887400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr12:57883400-57888200	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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