Variant report

Variant	esv3448760
Chromosome Location	chr13:111037689-111037869
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	chr13:111037314..111040155-chr13:111051722..111054664,2	K562	blood:
2	chr13:111035825..111038178-chr13:111040396..111042030,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CARKD-2	chr13:111037803-111037957	NONHSAT035144

Extended variants
information (count: 31 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112689415	chr13:111037698-111037699	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533244645	chr13:111037703-111037704	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551504512	chr13:111037712-111037713	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs386774704	chr13:111037743-111037744	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs111740035	chr13:111037757-111037758	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186561645	chr13:111037758-111037759	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs61963170	chr13:111037766-111037767	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs61963171	chr13:111037768-111037769	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs115945569	chr13:111037781-111037782	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs61963172	chr13:111037782-111037783	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs111264016	chr13:111037790-111037791	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565718523	chr13:111037793-111037794	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs61963173	chr13:111037797-111037798	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112240588	chr13:111037798-111037799	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs61963174	chr13:111037799-111037800	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs539519017	chr13:111037805-111037806	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs370155113	chr13:111037814-111037815	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs111942473	chr13:111037816-111037817	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs377354071	chr13:111037823-111037824	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs369570723	chr13:111037829-111037830	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs370765085	chr13:111037830-111037831	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs61963175	chr13:111037836-111037837	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs9521736	chr13:111037838-111037839	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs375921410	chr13:111037840-111037841	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs9521737	chr13:111037845-111037846	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs9521738	chr13:111037847-111037848	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs370346070	chr13:111037851-111037852	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs111950631	chr13:111037853-111037854	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs202158941	chr13:111037860-111037861	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs113131830	chr13:111037862-111037863	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs371524867	chr13:111037864-111037865	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Breast cancer	21364760	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
Pancreatic ductal adenocarcinoma	19077451	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
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111024400-111040200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr13:111024800-111039400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr13:111031000-111038400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr13:111031000-111039800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr13:111031600-111040200	Weak transcription	Aorta	Aorta
6	chr13:111032600-111040200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr13:111033200-111039600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr13:111033200-111039800	Weak transcription	Fetal Lung	lung
9	chr13:111033200-111040200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr13:111033400-111037800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr13:111033600-111039800	Weak transcription	Spleen	Spleen
12	chr13:111033800-111039800	Weak transcription	Right Atrium	heart
13	chr13:111034000-111041200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr13:111034200-111039800	Weak transcription	Ovary	ovary
15	chr13:111034400-111039600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr13:111034400-111039600	Weak transcription	Adipose Nuclei	Adipose
17	chr13:111034600-111039600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr13:111034600-111039600	Weak transcription	NHDF-Ad	bronchial
19	chr13:111034800-111039800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr13:111034800-111040200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr13:111035200-111037800	Weak transcription	Osteobl	bone
22	chr13:111035800-111037800	Weak transcription	HSMM	muscle
23	chr13:111036000-111037800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr13:111036400-111037800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr13:111036800-111038400	Weak transcription	Fetal Kidney	kidney
26	chr13:111037000-111037800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr13:111037000-111038400	ZNF genes & repeats	Lung	lung
28	chr13:111037000-111038600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr13:111037000-111038600	ZNF genes & repeats	Placenta	Placenta
30	chr13:111037200-111037800	Weak transcription	Fetal Intestine Small	intestine
31	chr13:111037200-111038000	Weak transcription	Fetal Muscle Leg	muscle
32	chr13:111037200-111038400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
33	chr13:111037200-111039200	Weak transcription	Colon Smooth Muscle	Colon
34	chr13:111037200-111039400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr13:111037200-111039400	Weak transcription	Fetal Muscle Trunk	muscle
36	chr13:111037200-111039400	Weak transcription	Fetal Stomach	stomach
37	chr13:111037200-111039600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr13:111037200-111039600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr13:111037200-111039600	Weak transcription	Fetal Heart	heart
40	chr13:111037200-111039600	Weak transcription	Left Ventricle	heart
41	chr13:111037200-111039600	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr13:111037200-111039800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr13:111037200-111039800	Weak transcription	Right Ventricle	heart
44	chr13:111037400-111039000	Weak transcription	Stomach Smooth Muscle	stomach
45	chr13:111037400-111039600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr13:111037400-111039800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr13:111037600-111037800	Enhancers	Gastric	stomach
48	chr13:111037600-111038000	Enhancers	Pancreas	Pancrea
49	chr13:111037600-111038400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
50	chr13:111037600-111038400	ZNF genes & repeats	NHLF	lung

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