Variant report

Variant	esv11649
Chromosome Location	chr12:8894895-8898914
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	CEBPB	chr12:8895749-8896028	Hela-S3	cervix:	n/a	n/a
2	FOS	chr12:8895178-8895342	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr12:8895096-8895415	MCF10A-Er-Src	breast:	n/a	n/a
4	NFIC	chr12:8894994-8895593	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr12:8896714-8897003	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr12:8896658-8896676	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr12:8897038-8897052	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr12:8895385-8895398	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr12:8894919-8895703	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr12:8898634-8898761	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr12:8895269-8895284	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr12:8895134-8895540	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr12:8898618-8898633	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr12:8896590-8897025	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr12:8895097-8895114	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr12:8895703-8895769	MCF-7	breast:	n/a	n/a
17	POLR2A	chr12:8897547-8897637	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr12:8896084-8896417	Hela-S3	cervix:	n/a	n/a
19	RCOR1	chr12:8895170-8895358	Hela-S3	cervix:	n/a	n/a
20	STAT3	chr12:8896596-8896796	MCF10A-Er-Src	breast:	n/a	n/a
21	USF2	chr12:8895230-8895600	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:8897099..8898698-chr12:8919700..8922096,2	MCF-7	breast:
2	chr12:8895071..8897064-chr12:8901227..8903223,2	K562	blood:

Variant related genes	Relation type
RPSAP51	TF binding region

Extended variants
information (count: 100 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79580601	chr12:8894904-8894905	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs117125002	chr12:8895027-8895028	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs11047012	chr12:8895057-8895058	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs117473053	chr12:8895079-8895080	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs369976483	chr12:8895110-8895111	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs35320757	chr12:8895202-8895203	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139563038	chr12:8895267-8895268	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs187537381	chr12:8895299-8895300	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12314822	chr12:8895331-8895332	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs12314823	chr12:8895335-8895336	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs192786907	chr12:8895389-8895390	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs149810140	chr12:8895397-8895398	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532404626	chr12:8895492-8895493	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs146810403	chr12:8895511-8895512	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs552514317	chr12:8895523-8895524	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs183677900	chr12:8895526-8895527	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs189135572	chr12:8895530-8895531	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs11613880	chr12:8895691-8895692	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs370791883	chr12:8895694-8895695	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192528125	chr12:8895712-8895713	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs373845186	chr12:8895721-8895722	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544442913	chr12:8895822-8895823	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145621483	chr12:8895825-8895826	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs146642609	chr12:8895827-8895828	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs372681827	chr12:8895870-8895871	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561141470	chr12:8895878-8895879	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs60066068	chr12:8895951-8895952	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs397970140	chr12:8895973-8895974	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs12315165	chr12:8895975-8895976	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs7977372	chr12:8896003-8896004	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs184290488	chr12:8896016-8896017	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs190413307	chr12:8896091-8896092	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs114894078	chr12:8896096-8896097	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs112972615	chr12:8896121-8896122	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs143347388	chr12:8896128-8896129	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10842197	chr12:8896136-8896137	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs116958753	chr12:8896159-8896160	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181198693	chr12:8896185-8896186	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs548169579	chr12:8896283-8896284	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs186706535	chr12:8896314-8896315	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs373208524	chr12:8896342-8896343	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs189639154	chr12:8896380-8896381	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs374789888	chr12:8896455-8896456	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs148361521	chr12:8896459-8896460	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs17729565	chr12:8896629-8896630	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs10505738	chr12:8896714-8896715	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs180757637	chr12:8896749-8896750	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs141520118	chr12:8896770-8896771	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs185328894	chr12:8896959-8896960	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs35209939	chr12:8896965-8896966	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:77)

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
Breast cancer	22522925	CNVD

Chromatin state (count:208 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8852800-8908600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr12:8853200-8934000	Weak transcription	K562	blood
3	chr12:8862400-8895000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:8862400-8902400	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr12:8862800-8905400	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr12:8862800-8908000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr12:8865000-8895200	Weak transcription	Psoas Muscle	Psoas
8	chr12:8866000-8895000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr12:8866000-8896600	Weak transcription	Brain Hippocampus Middle	brain
10	chr12:8868200-8905400	Weak transcription	Right Ventricle	heart
11	chr12:8872000-8896600	Weak transcription	HUVEC	blood vessel
12	chr12:8875600-8895000	Weak transcription	HSMMtube	muscle
13	chr12:8875800-8933200	Weak transcription	Fetal Kidney	kidney
14	chr12:8877600-8902600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr12:8877800-8904000	Weak transcription	Fetal Brain Male	brain
16	chr12:8878400-8904400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr12:8878400-8923600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr12:8878400-8937200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr12:8879800-8902400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr12:8882200-8895000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr12:8882200-8895000	Weak transcription	Fetal Intestine Large	intestine
22	chr12:8882200-8895000	Weak transcription	Lung	lung
23	chr12:8882200-8895200	Weak transcription	Thymus	Thymus
24	chr12:8882200-8902400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr12:8882200-8904800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr12:8882200-8938400	Weak transcription	Spleen	Spleen
27	chr12:8882200-8939400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr12:8882400-8895000	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr12:8882400-8902600	Weak transcription	Fetal Lung	lung
30	chr12:8882400-8904200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr12:8882400-8905800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr12:8882600-8895000	Weak transcription	Primary hematopoietic stem cells	blood
33	chr12:8882600-8903400	Weak transcription	Primary T cells from cord blood	blood
34	chr12:8883200-8903800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr12:8883200-8904600	Weak transcription	Fetal Brain Female	brain
36	chr12:8883400-8938800	Weak transcription	Primary B cells from cord blood	blood
37	chr12:8883600-8895000	Weak transcription	Fetal Muscle Trunk	muscle
38	chr12:8886600-8912200	Weak transcription	Small Intestine	intestine
39	chr12:8887600-8895000	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr12:8888200-8895000	Weak transcription	Rectal Smooth Muscle	rectum
41	chr12:8888200-8895200	Weak transcription	Right Atrium	heart
42	chr12:8888600-8895000	Weak transcription	Adipose Nuclei	Adipose
43	chr12:8888800-8932000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr12:8889200-8895000	Weak transcription	NHEK	skin
45	chr12:8889200-8896400	Weak transcription	Brain Anterior Caudate	brain
46	chr12:8889200-8917400	Weak transcription	Fetal Heart	heart
47	chr12:8889200-8935800	Weak transcription	A549	lung
48	chr12:8889200-8936600	Weak transcription	Brain Angular Gyrus	brain
49	chr12:8889600-8895400	Weak transcription	Aorta	Aorta
50	chr12:8889600-8903200	Weak transcription	Ovary	ovary

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