Variant report

Variant	esv3390043
Chromosome Location	chr12:117562869-117568067
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:117549512..117551256-chr12:117563956..117566230,2	K562	blood:
2	chr12:117557753..117559433-chr12:117563152..117564669,2	K562	blood:
3	chr12:117556807..117559168-chr12:117564968..117567084,2	MCF-7	breast:
4	chr12:117563780..117567110-chr12:117568680..117571095,3	MCF-7	breast:
5	chr12:117564140..117566013-chr12:117581148..117583072,2	MCF-7	breast:
6	chr12:117560289..117562463-chr12:117565995..117568462,3	K562	blood:
7	chr12:117567393..117570707-chr12:117571769..117574020,3	MCF-7	breast:
8	chr12:117563617..117566277-chr12:117584320..117585955,2	MCF-7	breast:
9	chr12:117566175..117568422-chr12:117574241..117576485,2	MCF-7	breast:
10	chr12:117536402..117538928-chr12:117564093..117567132,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000088992	chromatin interactions
ENSG00000258285	chromatin interactions

Extended variants
information (count: 321 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:321 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547518769	chr12:117562925-117562926	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs560677901	chr12:117562962-117562963	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs183924919	chr12:117563057-117563058	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs145517663	chr12:117563093-117563094	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs370041375	chr12:117563100-117563101	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs531887311	chr12:117563104-117563105	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs548997151	chr12:117563121-117563122	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs568930793	chr12:117563150-117563151	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs7957302	chr12:117563185-117563186	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs61937048	chr12:117563218-117563219	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs550858716	chr12:117563221-117563222	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs35356074	chr12:117563242-117563243	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs568280698	chr12:117563281-117563282	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs527902714	chr12:117563286-117563287	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs188546958	chr12:117563377-117563378	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs539664720	chr12:117563398-117563399	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs368567635	chr12:117563446-117563447	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs552782408	chr12:117563468-117563469	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs566605148	chr12:117563483-117563484	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs191640654	chr12:117563503-117563504	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs555367708	chr12:117563513-117563514	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs575321532	chr12:117563538-117563539	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs533981391	chr12:117563549-117563550	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs183000525	chr12:117563560-117563561	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs186917524	chr12:117563601-117563602	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs578105193	chr12:117563628-117563629	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs191864456	chr12:117563651-117563652	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs560195401	chr12:117563652-117563653	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs529321986	chr12:117563668-117563669	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs544857198	chr12:117563675-117563676	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs542725560	chr12:117563677-117563678	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs544530073	chr12:117563706-117563707	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs562499151	chr12:117563724-117563725	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs531598080	chr12:117563738-117563739	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs550596178	chr12:117563764-117563765	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs570763874	chr12:117563782-117563783	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs139524352	chr12:117563810-117563811	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs546801419	chr12:117563836-117563837	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs566688796	chr12:117563837-117563838	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs546658764	chr12:117563874-117563875	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs35109416	chr12:117563877-117563878	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs201988892	chr12:117563878-117563879	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs199724912	chr12:117563879-117563880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs207473420	chr12:117563897-117563898	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs535503261	chr12:117563898-117563899	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs555506416	chr12:117563948-117563949	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs116928611	chr12:117563952-117563953	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs144846200	chr12:117563966-117563967	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs558153153	chr12:117563985-117563986	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs578219818	chr12:117564048-117564049	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Non-syndromic sensorineural hearing loss	18496225	CNVD

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117551600-117566000	Weak transcription	Spleen	Spleen
2	chr12:117553000-117563800	Weak transcription	Pancreas	Pancrea
3	chr12:117557400-117565800	Weak transcription	Gastric	stomach
4	chr12:117557600-117564000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:117559000-117564800	Weak transcription	Right Ventricle	heart
6	chr12:117559800-117563000	Weak transcription	Fetal Brain Male	brain
7	chr12:117559800-117563000	Weak transcription	Fetal Brain Female	brain
8	chr12:117559800-117582200	Weak transcription	Brain Angular Gyrus	brain
9	chr12:117560000-117581000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:117560800-117563400	Enhancers	Fetal Heart	heart
11	chr12:117561400-117563200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:117561800-117563800	Enhancers	HepG2	liver
13	chr12:117562000-117563200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:117562000-117563800	Weak transcription	Brain Substantia Nigra	brain
15	chr12:117562200-117563000	Enhancers	Stomach Smooth Muscle	stomach
16	chr12:117562200-117563200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr12:117562200-117563400	Enhancers	Fetal Thymus	thymus
18	chr12:117562400-117563400	Enhancers	Dnd41	blood
19	chr12:117562400-117563800	Flanking Active TSS	Hela-S3	cervix
20	chr12:117562600-117563200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:117562600-117563200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr12:117562600-117563400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:117562600-117563600	Weak transcription	Fetal Kidney	kidney
24	chr12:117562600-117563800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr12:117562800-117563200	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr12:117562800-117563200	Enhancers	Thymus	Thymus
27	chr12:117562800-117563600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr12:117562800-117563600	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr12:117562800-117563600	Flanking Active TSS	A549	lung
30	chr12:117563000-117563400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr12:117563000-117563400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:117563000-117563600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr12:117563000-117563600	Enhancers	Placenta	Placenta
34	chr12:117563000-117563600	Flanking Active TSS	Stomach Smooth Muscle	stomach
35	chr12:117563000-117563600	Enhancers	HSMMtube	muscle
36	chr12:117563000-117563800	Enhancers	Fetal Brain Female	brain
37	chr12:117563000-117563800	Enhancers	NHDF-Ad	bronchial
38	chr12:117563000-117564000	Enhancers	Esophagus	oesophagus
39	chr12:117563000-117564200	Enhancers	Fetal Brain Male	brain
40	chr12:117563200-117567800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr12:117563400-117563600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr12:117563400-117563800	Weak transcription	Fetal Heart	heart
43	chr12:117563600-117563800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr12:117563600-117563800	Enhancers	Stomach Smooth Muscle	stomach
45	chr12:117563600-117564000	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr12:117563600-117564200	Enhancers	A549	lung
47	chr12:117563600-117564400	ZNF genes & repeats	Fetal Kidney	kidney
48	chr12:117563600-117564600	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr12:117563600-117564600	Active TSS	Fetal Lung	lung
50	chr12:117563600-117568200	Weak transcription	Placenta	Placenta

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