Variant report

Variant	esv3447880
Chromosome Location	chr13:111035851-111040549
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:3)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:111035825..111038178-chr13:111040396..111042030,2	K562	blood:
2	chr13:111035825..111038178-chr13:111040396..111042030,2	K562	blood:
3	chr13:111037314..111040155-chr13:111051722..111054664,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CARKD-2	chr13:111038030-111038077	NONHSAT035144
2	lnc-CARKD-2	chr13:111038174-111038194	NONHSAT035144
3	lnc-CARKD-2	chr13:111037803-111037957	NONHSAT035144

No data

Extended variants
information (count: 311 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:311 , 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	rs546129369	chr13:111035855-111035856	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs76723033	chr13:111035876-111035877	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs377712335	chr13:111035926-111035927	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371461142	chr13:111035953-111035954	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs67906394	chr13:111035980-111035981	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139665219	chr13:111035985-111035986	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191157175	chr13:111036003-111036004	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs9515200	chr13:111036022-111036023	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs565712759	chr13:111036033-111036034	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562620819	chr13:111036066-111036067	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs529824245	chr13:111036118-111036119	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548369479	chr13:111036171-111036172	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs116495918	chr13:111036176-111036177	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139660739	chr13:111036178-111036179	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs149741886	chr13:111036179-111036180	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs570834936	chr13:111036182-111036183	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534851296	chr13:111036183-111036184	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145210752	chr13:111036210-111036211	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553964191	chr13:111036239-111036240	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs568561956	chr13:111036280-111036281	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535627038	chr13:111036309-111036310	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs59884924	chr13:111036342-111036343	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554335851	chr13:111036346-111036347	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs59999608	chr13:111036352-111036353	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs572599750	chr13:111036400-111036401	Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537418481	chr13:111036461-111036462	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539722455	chr13:111036466-111036467	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs558064567	chr13:111036487-111036488	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs576398329	chr13:111036510-111036511	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183377285	chr13:111036517-111036518	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs373677110	chr13:111036557-111036558	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs562400247	chr13:111036560-111036561	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574485765	chr13:111036664-111036665	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs148723474	chr13:111036665-111036666	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560289888	chr13:111036674-111036675	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187696516	chr13:111036690-111036691	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546101123	chr13:111036735-111036736	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs564388088	chr13:111036736-111036737	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs143552762	chr13:111036737-111036738	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs146819693	chr13:111036790-111036791	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs568420385	chr13:111036791-111036792	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529386847	chr13:111036827-111036828	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547604465	chr13:111036833-111036834	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs188850094	chr13:111036852-111036853	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs140608625	chr13:111036881-111036882	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs148268880	chr13:111036951-111036952	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs117529028	chr13:111036996-111036997	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs112800798	chr13:111037006-111037007	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs570020204	chr13:111037021-111037022	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs572423926	chr13:111037048-111037049	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Breast cancer	22522925	CNVD

Chromatin state (count:309 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111015600-111036600	Weak transcription	Fetal Intestine Small	intestine
2	chr13:111024400-111040200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr13:111024800-111039400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr13:111031000-111038400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr13:111031000-111039800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr13:111031600-111040200	Weak transcription	Aorta	Aorta
7	chr13:111032600-111036600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr13:111032600-111037600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr13:111032600-111037600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr13:111032600-111040200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr13:111032800-111036800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr13:111033200-111037000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr13:111033200-111039600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr13:111033200-111039800	Weak transcription	Fetal Lung	lung
15	chr13:111033200-111040200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr13:111033400-111037000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr13:111033400-111037800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr13:111033600-111036000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr13:111033600-111036200	Weak transcription	Right Ventricle	heart
20	chr13:111033600-111036400	Weak transcription	Placenta	Placenta
21	chr13:111033600-111037000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr13:111033600-111037600	Weak transcription	Pancreas	Pancrea
23	chr13:111033600-111039800	Weak transcription	Spleen	Spleen
24	chr13:111033800-111036000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr13:111033800-111036000	Weak transcription	Esophagus	oesophagus
26	chr13:111033800-111036600	Weak transcription	Left Ventricle	heart
27	chr13:111033800-111036800	Weak transcription	Fetal Stomach	stomach
28	chr13:111033800-111037000	Weak transcription	Lung	lung
29	chr13:111033800-111039800	Weak transcription	Right Atrium	heart
30	chr13:111034000-111036000	Weak transcription	Fetal Muscle Trunk	muscle
31	chr13:111034000-111041200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr13:111034200-111036000	Weak transcription	Fetal Muscle Leg	muscle
33	chr13:111034200-111036200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr13:111034200-111037000	Weak transcription	Gastric	stomach
35	chr13:111034200-111037200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr13:111034200-111039800	Weak transcription	Ovary	ovary
37	chr13:111034400-111036800	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr13:111034400-111037000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr13:111034400-111039600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr13:111034400-111039600	Weak transcription	Adipose Nuclei	Adipose
41	chr13:111034600-111036600	Weak transcription	Colon Smooth Muscle	Colon
42	chr13:111034600-111039600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr13:111034600-111039600	Weak transcription	NHDF-Ad	bronchial
44	chr13:111034800-111036000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr13:111034800-111036200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr13:111034800-111039800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr13:111034800-111040200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr13:111035000-111036200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr13:111035200-111036200	Weak transcription	NHEK	skin
50	chr13:111035200-111037800	Weak transcription	Osteobl	bone

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