Variant report

Variant	esv3428961
Chromosome Location	chr12:32963198-32963982
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:32962332..32964865-chr12:32975900..32977825,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000057294	chromatin interactions

Extended variants
information (count: 23 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530678788	chr12:32963208-32963209	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs372064920	chr12:32963211-32963212	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs11525539	chr12:32963212-32963213	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs563728916	chr12:32963248-32963249	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs532770629	chr12:32963274-32963275	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs546478084	chr12:32963275-32963276	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs34150100	chr12:32963293-32963294	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs560105465	chr12:32963294-32963295	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs79595468	chr12:32963301-32963302	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs551651947	chr12:32963326-32963327	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs547380410	chr12:32963345-32963346	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs117103430	chr12:32963357-32963358	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs568527394	chr12:32963358-32963359	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs537141840	chr12:32963396-32963397	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs2389107	chr12:32963482-32963483	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs569725853	chr12:32963488-32963489	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs571853581	chr12:32963516-32963517	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs140313821	chr12:32963616-32963617	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs374170541	chr12:32963617-32963618	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs149631457	chr12:32963618-32963619	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs200754663	chr12:32963697-32963698	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs538859543	chr12:32963950-32963951	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs145362307	chr12:32963957-32963958	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Chronic lymphocytic leukemia	21546498	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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Chordoma	18071362	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21272361	CNVD

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32941800-33033400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr12:32943800-33026800	Weak transcription	Fetal Kidney	kidney
3	chr12:32944200-32989400	Weak transcription	Hela-S3	cervix
4	chr12:32945800-32972400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr12:32946000-32973600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr12:32946600-32967200	Weak transcription	Stomach Mucosa	stomach
7	chr12:32949200-32975200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr12:32949200-32987000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:32949200-33007800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:32954200-32963400	Weak transcription	HMEC	breast
11	chr12:32954400-32968800	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr12:32959000-32965000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:32960200-32969200	Weak transcription	Small Intestine	intestine
14	chr12:32960800-32965400	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr12:32961000-32989800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:32961400-32963200	Strong transcription	Placenta	Placenta
17	chr12:32961400-32965200	Strong transcription	Duodenum Mucosa	Duodenum
18	chr12:32961400-32969400	Strong transcription	NHEK	skin
19	chr12:32961400-32971000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:32961600-32963600	Enhancers	HSMMtube	muscle
21	chr12:32961600-32965200	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr12:32961800-32963200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr12:32961800-32963200	Strong transcription	Colonic Mucosa	Colon
24	chr12:32961800-32973400	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr12:32961800-32974800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr12:32962000-32964400	Strong transcription	Fetal Intestine Large	intestine
27	chr12:32962000-32965000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr12:32962000-32965400	Strong transcription	Liver	Liver
29	chr12:32962000-32973600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:32962200-32965400	Enhancers	Brain Cingulate Gyrus	brain
31	chr12:32962200-32969200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr12:32962200-32974000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:32962400-32963600	Enhancers	Left Ventricle	heart
34	chr12:32962400-32964600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr12:32962400-32970600	Weak transcription	Fetal Stomach	stomach
36	chr12:32962400-32973400	Weak transcription	Gastric	stomach
37	chr12:32962400-32973400	Weak transcription	Right Atrium	heart
38	chr12:32962600-32965000	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr12:32962600-32965000	Enhancers	Brain Hippocampus Middle	brain
40	chr12:32962600-32973400	Weak transcription	Pancreas	Pancrea
41	chr12:32962800-32963600	Enhancers	Brain Angular Gyrus	brain
42	chr12:32962800-32963600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr12:32962800-32964200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr12:32962800-32967000	Weak transcription	Right Ventricle	heart
45	chr12:32963000-32963600	Flanking Active TSS	Fetal Heart	heart
46	chr12:32963000-32963800	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr12:32963000-32963800	Weak transcription	HepG2	liver
48	chr12:32963000-32964000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr12:32963000-32968200	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr12:32963000-32970600	Weak transcription	Fetal Intestine Small	intestine

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