Variant report

Variant	esv3429017
Chromosome Location	chr12:116851669-116854667
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:116852964..116855538-chr12:116892143..116894381,2	K562	blood:
2	chr12:116840109..116842715-chr12:116852783..116854529,2	MCF-7	breast:
3	chr12:116850964..116853402-chr12:116856955..116858465,2	K562	blood:
4	chr12:116827340..116830993-chr12:116850085..116852933,3	MCF-7	breast:
5	chr12:116827825..116828912-chr12:116853615..116854598,10	MCF-7	breast:
6	chr12:116714305..116716421-chr12:116851573..116854711,3	MCF-7	breast:
7	chr12:116851902..116854715-chr12:116856718..116858455,2	K562	blood:
8	chr12:116807283..116809324-chr12:116853961..116856679,2	K562	blood:
9	chr12:116827998..116828912-chr12:116853660..116854598,5	MCF-7	breast:
10	chr12:116827877..116828857-chr12:116853617..116854511,4	MCF-7	breast:
11	chr12:116849525..116852471-chr12:116871816..116874703,2	MCF-7	breast:
12	chr12:116843273..116846667-chr12:116853532..116856656,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000123066	chromatin interactions

Extended variants
information (count: 145 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:145 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1272964	chr12:116851683-116851684	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs1270746	chr12:116851706-116851707	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs181145996	chr12:116851720-116851721	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs561883828	chr12:116851734-116851735	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs530789718	chr12:116851798-116851799	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs185003727	chr12:116851805-116851806	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs7975150	chr12:116851806-116851807	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs532831847	chr12:116851886-116851887	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs546587972	chr12:116851914-116851915	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs201473322	chr12:116851916-116851917	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs117841236	chr12:116851929-116851930	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs535196382	chr12:116851952-116851953	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs189069013	chr12:116852002-116852003	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs577880734	chr12:116852009-116852010	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs538125967	chr12:116852010-116852011	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs180977908	chr12:116852013-116852014	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs577961326	chr12:116852040-116852041	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs370213432	chr12:116852045-116852046	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs554137451	chr12:116852057-116852058	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs574152216	chr12:116852065-116852066	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs376270413	chr12:116852185-116852186	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs6490071	chr12:116852213-116852214	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs561847615	chr12:116852223-116852224	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs575559026	chr12:116852224-116852225	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs544487045	chr12:116852225-116852226	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs187027240	chr12:116852226-116852227	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs557005745	chr12:116852252-116852253	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs573670558	chr12:116852278-116852279	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs533263293	chr12:116852335-116852336	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs546250511	chr12:116852352-116852353	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs189468481	chr12:116852380-116852381	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs528942016	chr12:116852381-116852382	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs548698108	chr12:116852407-116852408	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs557190619	chr12:116852456-116852457	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs77075220	chr12:116852462-116852463	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs531827056	chr12:116852481-116852482	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs559470751	chr12:116852551-116852552	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs528732582	chr12:116852634-116852635	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs375097766	chr12:116852640-116852641	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs143584877	chr12:116852740-116852741	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs571801671	chr12:116852742-116852743	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs534526868	chr12:116852790-116852791	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs553844584	chr12:116852797-116852798	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs567695826	chr12:116852802-116852803	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs375220045	chr12:116852817-116852818	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs545551652	chr12:116852846-116852847	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs556736718	chr12:116852847-116852848	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs147903230	chr12:116852868-116852869	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs57361968	chr12:116852870-116852871	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs576621606	chr12:116852878-116852879	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Neuroblastoma	20406844	CNVD
Medulloblastoma	16783165	CNVD
mental retardation	16760730	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Lung adenocarcinoma	21045234	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21806811	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:116842400-116853400	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr12:116844800-116862400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr12:116847000-116853000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:116848000-116853200	Weak transcription	Spleen	Spleen
5	chr12:116848800-116852800	Weak transcription	Fetal Brain Male	brain
6	chr12:116848800-116853200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:116849000-116853200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:116849000-116853800	Weak transcription	A549	lung
9	chr12:116849000-116854000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:116849000-116858200	Weak transcription	Colon Smooth Muscle	Colon
11	chr12:116849200-116854000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:116849200-116858000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:116849600-116853600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr12:116849800-116854000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:116850000-116860600	Weak transcription	NHDF-Ad	bronchial
16	chr12:116850400-116852800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr12:116850600-116853000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr12:116852400-116854600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr12:116852800-116853000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr12:116852800-116853600	Active TSS	Fetal Kidney	kidney
21	chr12:116852800-116853800	Enhancers	Fetal Brain Male	brain
22	chr12:116853000-116853200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr12:116853000-116853600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr12:116853000-116853800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:116853000-116854200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr12:116853000-116854800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:116853200-116853600	Enhancers	Spleen	Spleen
28	chr12:116853200-116853800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr12:116853200-116854400	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr12:116853200-116855000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr12:116853400-116854200	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr12:116853600-116854400	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr12:116853600-116854400	Enhancers	Fetal Muscle Trunk	muscle
34	chr12:116853600-116855200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr12:116853800-116854200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:116853800-116854400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr12:116853800-116854400	Enhancers	A549	lung
38	chr12:116853800-116854600	Enhancers	H1 Cell Line	embryonic stem cell
39	chr12:116853800-116854600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr12:116853800-116854600	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr12:116853800-116854800	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr12:116854000-116854400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr12:116854000-116854400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr12:116854000-116854400	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr12:116854000-116854600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr12:116854000-116854600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr12:116854200-116854400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:116854200-116854600	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr12:116854200-116854600	Enhancers	HSMMtube	muscle
50	chr12:116854200-116858200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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