Variant report

Variant	esv3391001
Chromosome Location	chr13:111314521-111314706
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	chr13:111313923..111315500-chr13:111364916..111367605,2	MCF-7	breast:
2	chr1:71371588..71372088-chr13:111314049..111314743,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000134905	chromatin interactions
ENSG00000153487	chromatin interactions

Extended variants
information (count: 40 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536565184	chr13:111314526-111314527	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs565652722	chr13:111314528-111314529	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs388050	chr13:111314541-111314542	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs527282293	chr13:111314542-111314543	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs79667924	chr13:111314544-111314545	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
6	rs534232442	chr13:111314551-111314552	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs199660458	chr13:111314556-111314557	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs558982293	chr13:111314561-111314562	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs577301145	chr13:111314564-111314565	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs9588231	chr13:111314565-111314566	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs9583522	chr13:111314566-111314567	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs9588232	chr13:111314579-111314580	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs388049	chr13:111314582-111314583	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs571140044	chr13:111314584-111314585	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs537930451	chr13:111314589-111314590	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs556737826	chr13:111314617-111314618	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs574898656	chr13:111314622-111314623	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs542124804	chr13:111314628-111314629	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs560365461	chr13:111314629-111314630	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs149934088	chr13:111314631-111314632	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs562838305	chr13:111314632-111314633	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs527345526	chr13:111314633-111314634	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs634472	chr13:111314636-111314637	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs572399965	chr13:111314637-111314638	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs539878697	chr13:111314638-111314639	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs564706224	chr13:111314640-111314641	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs532257887	chr13:111314641-111314642	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs370541827	chr13:111314642-111314643	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs376925364	chr13:111314643-111314644	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs2986101	chr13:111314656-111314657	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs548401630	chr13:111314664-111314665	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs566813730	chr13:111314665-111314666	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs544224	chr13:111314668-111314669	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs552631493	chr13:111314670-111314671	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs570727308	chr13:111314675-111314676	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs2986102	chr13:111314676-111314677	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs374615242	chr13:111314679-111314680	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs544186	chr13:111314682-111314683	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs535695893	chr13:111314688-111314689	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs2986104	chr13:111314696-111314697	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:91)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Cancer	20164919	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Gastric cancer	17908304	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
Acute myeloid leukemia	21251322	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Burkitt''s lymphoma	20823134	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Burkitt''s lymphoma	19759907	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Medulloblastoma	19270706	CNVD
Mental retardation	17124404	CNVD
Leukemia	18688285	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21858162	CNVD
Melanoma	17363583	CNVD
Developmental delay	21147756	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	16608533	CNVD
Glioblastoma multiforme	22286061	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
abnormal development	18461090	CNVD
Malignant glioma	17146433	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Glioma	17123091	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	20409316	CNVD
Central neurocytomas	17123091	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Neurocytoma	17123091	CNVD
Mantle cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22267523	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111280800-111328600	Weak transcription	Psoas Muscle	Psoas
2	chr13:111293400-111314800	Weak transcription	HUVEC	blood vessel
3	chr13:111297800-111317200	Weak transcription	Colon Smooth Muscle	Colon
4	chr13:111297800-111336400	Weak transcription	Small Intestine	intestine
5	chr13:111298000-111320400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr13:111301200-111315600	Weak transcription	K562	blood
7	chr13:111301200-111322800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr13:111301600-111322800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr13:111301600-111324400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr13:111302000-111322800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr13:111302200-111351400	Weak transcription	Stomach Mucosa	stomach
12	chr13:111303400-111315600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr13:111303400-111327800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr13:111305200-111317600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr13:111307600-111322800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr13:111308000-111322800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr13:111309600-111315600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr13:111309600-111316200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr13:111309600-111321800	Strong transcription	Osteobl	bone
20	chr13:111309800-111315200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr13:111309800-111316400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr13:111309800-111322400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr13:111310200-111315400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr13:111310400-111321800	Strong transcription	NHEK	skin
25	chr13:111310600-111322800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr13:111310800-111352200	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr13:111311400-111314800	ZNF genes & repeats	Brain Germinal Matrix	brain
28	chr13:111311400-111315600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr13:111311400-111315800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr13:111311400-111316400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
31	chr13:111311400-111320800	Strong transcription	Liver	Liver
32	chr13:111311400-111321800	Strong transcription	HSMM	muscle
33	chr13:111311400-111322000	Strong transcription	NHDF-Ad	bronchial
34	chr13:111311400-111322200	Strong transcription	Ovary	ovary
35	chr13:111311400-111322400	Strong transcription	Stomach Smooth Muscle	stomach
36	chr13:111311400-111322600	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr13:111311600-111320400	Strong transcription	Muscle Satellite Cultured Cells	--
38	chr13:111311600-111321000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr13:111311600-111321400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr13:111311600-111322600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr13:111311600-111352000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr13:111311800-111324200	Strong transcription	Duodenum Mucosa	Duodenum
43	chr13:111312000-111314800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
44	chr13:111312000-111315600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr13:111312000-111320000	Strong transcription	Primary T cells from cord blood	blood
46	chr13:111312000-111322400	Strong transcription	Adipose Nuclei	Adipose
47	chr13:111312400-111319200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr13:111312600-111315200	Weak transcription	HSMMtube	muscle
49	chr13:111312800-111357400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr13:111313000-111314800	ZNF genes & repeats	Fetal Intestine Small	intestine

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