Variant report

Variant	esv3429306
Chromosome Location	chr13:48891919-48892212
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:48890081..48892868-chr13:48895094..48897865,2	K562	blood:
2	chr13:48890081..48892868-chr13:48894864..48897865,3	K562	blood:
3	chr13:48886217..48888440-chr13:48889572..48892484,2	K562	blood:
4	chr13:48876409..48879041-chr13:48891404..48895274,4	K562	blood:

Variant related genes	Relation type
ENSG00000231473	chromatin interactions
ENSG00000139687	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144791381	chr13:48891927-48891928	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs185182046	chr13:48891968-48891969	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs552430928	chr13:48891994-48891995	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs570822091	chr13:48892006-48892007	Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs534718155	chr13:48892028-48892029	Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs112367681	chr13:48892030-48892031	Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs534893431	chr13:48892044-48892045	Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs568793227	chr13:48892057-48892058	Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs3782978	chr13:48892058-48892059	Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs190204133	chr13:48892081-48892082	Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs2854348	chr13:48892092-48892093	Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs539520228	chr13:48892148-48892149	Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs116808604	chr13:48892171-48892172	Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs572755671	chr13:48892178-48892179	Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs539861040	chr13:48892185-48892186	Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs375551734	chr13:48892212-48892213	Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:125)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17899364	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Melanoma	18172304	CNVD
Retinoblastoma	21504564	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Mental retardation	17502991	CNVD
Retinoblastoma	17502991	CNVD
Bipolar disorder	18458673	CNVD
Liposarcoma	21253554	CNVD
T-cell lymphomas	19863542	CNVD
Cervical cancer	21062161	CNVD
microdeletion syndrome	19284877	CNVD
Ovarian cancer	22355333	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	21088497	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22048815	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	21750150	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Non-small cell lung cancer	21829676	CNVD
Phyllodes tumor	17334353	CNVD
Retinoblastoma	22278416	CNVD
Glioblastoma multiforme	19435819	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	22522925	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Lung adenocarcinoma	21151896	CNVD
Breast cancer	21518781	CNVD
Mantle cell lymphoma	21518781	CNVD
Ovarian cancer	21518781	CNVD
Retinoblastoma	21518781	CNVD

Chromatin state (count:147 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48879400-48894200	Weak transcription	A549	lung
2	chr13:48879800-48892400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr13:48880000-48892000	Weak transcription	HSMMtube	muscle
4	chr13:48880200-48892200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr13:48880200-48892200	Weak transcription	Fetal Kidney	kidney
6	chr13:48880200-48892200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr13:48880200-48892600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr13:48880200-48892600	Weak transcription	NH-A	brain
9	chr13:48880200-48893800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr13:48880200-48894400	Weak transcription	Brain Anterior Caudate	brain
11	chr13:48880200-48913200	Weak transcription	Aorta	Aorta
12	chr13:48880400-48892400	Weak transcription	HMEC	breast
13	chr13:48880400-48892600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr13:48880600-48892200	Weak transcription	Brain Hippocampus Middle	brain
15	chr13:48880600-48892200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr13:48880600-48892400	Weak transcription	Ovary	ovary
17	chr13:48880600-48894600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr13:48880600-48924600	Weak transcription	Psoas Muscle	Psoas
19	chr13:48880800-48892200	Weak transcription	Colon Smooth Muscle	Colon
20	chr13:48880800-48892400	Weak transcription	Primary T cells from cord blood	blood
21	chr13:48880800-48893200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr13:48880800-48895200	Weak transcription	Small Intestine	intestine
23	chr13:48880800-48895600	Weak transcription	Hela-S3	cervix
24	chr13:48880800-48896200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr13:48881200-48892800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr13:48881200-48895600	Weak transcription	HepG2	liver
27	chr13:48882400-48892200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr13:48883000-48892400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr13:48884200-48892600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr13:48884400-48893400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr13:48884600-48892600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr13:48884600-48892800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr13:48884800-48893000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr13:48885400-48892200	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr13:48885800-48892000	Weak transcription	HSMM	muscle
36	chr13:48886600-48892800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr13:48887000-48896200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr13:48887200-48892000	Weak transcription	Fetal Heart	heart
39	chr13:48887600-48892200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr13:48887800-48892000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr13:48887800-48892800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr13:48888800-48892400	Weak transcription	Brain Substantia Nigra	brain
43	chr13:48889400-48892000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr13:48889600-48892800	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr13:48889800-48892200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
46	chr13:48890000-48892000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
47	chr13:48890000-48894200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr13:48890000-48894400	ZNF genes & repeats	GM12878-XiMat	blood
49	chr13:48890000-48894800	ZNF genes & repeats	Fetal Intestine Large	intestine
50	chr13:48890200-48892000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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