Variant report

Variant	esv3415616
Chromosome Location	chr13:111170049-111170630
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	chr13:111160457..111163590-chr13:111168306..111171101,4	K562	blood:
2	chr13:111161146..111163590-chr13:111168306..111171101,3	K562	blood:

Variant related genes	Relation type
ENSG00000232814	chromatin interactions

Extended variants
information (count: 24 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549683182	chr13:111170056-111170057	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs36080057	chr13:111170106-111170107	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs397951702	chr13:111170107-111170108	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs56269598	chr13:111170108-111170109	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs112531817	chr13:111170170-111170171	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs367970175	chr13:111170177-111170178	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs372749379	chr13:111170205-111170206	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs574939344	chr13:111170251-111170252	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs55636235	chr13:111170264-111170265	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs143620106	chr13:111170283-111170284	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs528074060	chr13:111170287-111170288	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs546648093	chr13:111170318-111170319	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs564889375	chr13:111170327-111170328	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs147231321	chr13:111170346-111170347	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs550697488	chr13:111170370-111170371	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs569029557	chr13:111170423-111170424	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs536096126	chr13:111170468-111170469	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs370452076	chr13:111170547-111170548	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs548447145	chr13:111170548-111170549	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs73626779	chr13:111170589-111170590	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs533854819	chr13:111170591-111170592	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs558491260	chr13:111170610-111170611	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs576837401	chr13:111170614-111170615	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs76430053	chr13:111170615-111170616	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

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

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111153400-111172800	Weak transcription	Brain Substantia Nigra	brain
2	chr13:111155200-111175600	Weak transcription	Fetal Thymus	thymus
3	chr13:111159600-111172200	Weak transcription	Brain Hippocampus Middle	brain
4	chr13:111159600-111176800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr13:111160000-111172800	Weak transcription	Brain Anterior Caudate	brain
6	chr13:111160800-111172200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr13:111160800-111172600	Weak transcription	Esophagus	oesophagus
8	chr13:111160800-111176400	Weak transcription	Psoas Muscle	Psoas
9	chr13:111160800-111209600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr13:111161200-111173000	Weak transcription	Brain Germinal Matrix	brain
11	chr13:111162400-111173000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr13:111162600-111177200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr13:111163000-111172200	Weak transcription	HepG2	liver
14	chr13:111163200-111171400	Weak transcription	Fetal Brain Male	brain
15	chr13:111163200-111175400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr13:111163400-111173000	Weak transcription	Right Atrium	heart
17	chr13:111164400-111170200	Weak transcription	K562	blood
18	chr13:111165000-111170600	Weak transcription	Colonic Mucosa	Colon
19	chr13:111165200-111173200	Weak transcription	Fetal Brain Female	brain
20	chr13:111165400-111170200	Weak transcription	A549	lung
21	chr13:111165400-111170600	Weak transcription	Small Intestine	intestine
22	chr13:111165400-111173400	Weak transcription	Brain Angular Gyrus	brain
23	chr13:111165400-111179800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr13:111165600-111170600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr13:111165600-111171000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr13:111165600-111171200	Weak transcription	NHEK	skin
27	chr13:111165600-111172800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr13:111165600-111172800	Weak transcription	HSMMtube	muscle
29	chr13:111165600-111173000	Weak transcription	Colon Smooth Muscle	Colon
30	chr13:111165600-111175600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr13:111165600-111176400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr13:111165600-111176600	Weak transcription	HMEC	breast
33	chr13:111165800-111179400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr13:111166600-111170600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr13:111166600-111172800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr13:111166600-111176800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr13:111166800-111170200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr13:111166800-111170200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr13:111166800-111171200	Weak transcription	Liver	Liver
40	chr13:111166800-111171600	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr13:111166800-111175600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr13:111167000-111170200	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr13:111167000-111172800	Weak transcription	HSMM	muscle
44	chr13:111167000-111173000	Weak transcription	Fetal Lung	lung
45	chr13:111167000-111173000	Weak transcription	Rectal Smooth Muscle	rectum
46	chr13:111167000-111190800	Weak transcription	Fetal Kidney	kidney
47	chr13:111167200-111170200	Weak transcription	Spleen	Spleen
48	chr13:111167200-111172200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr13:111167200-111179600	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr13:111167400-111170200	Weak transcription	Gastric	stomach

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