Variant report

Variant	nsv471130
Chromosome Location	chr13:40261945-40350912
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:40276171..40277739-chr8:64083128..64085038,2	MCF-7	breast:
2	chr13:40343415..40346498-chr13:40346695..40349589,3	MCF-7	breast:
3	chr13:40339835..40340612-chr13:41351236..41351869,2	MCF-7	breast:
4	chr13:40297835..40300183-chr13:40302269..40304121,2	MCF-7	breast:
5	chr13:40349745..40352056-chr13:40357324..40359153,2	MCF-7	breast:
6	chr13:40338587..40340138-chr13:40344634..40347298,2	MCF-7	breast:
7	chr13:40240996..40242613-chr13:40266490..40268729,2	K562	blood:
8	chr13:40343415..40346498-chr13:40346695..40349589,3	MCF-7	breast:
9	chr13:40339648..40340487-chr13:40516980..40517545,3	MCF-7	breast:
10	chr13:40338587..40340138-chr13:40344634..40347298,2	MCF-7	breast:
11	chr13:40334982..40337230-chr13:40339387..40341631,2	MCF-7	breast:
12	chr13:40304256..40306773-chr13:40312127..40313886,2	MCF-7	breast:
13	chr13:40263482..40266386-chr13:40274565..40277174,2	MCF-7	breast:
14	chr13:40350876..40353001-chr13:41230658..41232496,2	MCF-7	breast:
15	chr13:40297835..40300183-chr13:40302269..40304121,2	MCF-7	breast:
16	chr13:40263482..40266386-chr13:40274565..40277174,2	MCF-7	breast:
17	chr13:40304256..40306773-chr13:40312127..40313886,2	MCF-7	breast:
18	chr13:40349248..40350752-chr13:41344020..41346208,2	MCF-7	breast:
19	chr13:40334982..40337230-chr13:40339387..40341631,2	MCF-7	breast:
20	chr13:40269987..40272885-chr13:41343744..41345569,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000102738	chromatin interactions

Extended variants
information (count: 3313 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:3313 , 50 per page) page: 1 2 3 4 5 6 7 ... 67

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4129745	chr13:40261945-40261946	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs369081716	chr13:40261958-40261959	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371418403	chr13:40261963-40261964	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150711256	chr13:40261967-40261968	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552687839	chr13:40261984-40261985	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs137884336	chr13:40261986-40261987	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369866213	chr13:40261987-40261988	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554486468	chr13:40262026-40262027	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142206865	chr13:40262191-40262192	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575901978	chr13:40262245-40262246	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs9548880	chr13:40262246-40262247	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs4383025	chr13:40262271-40262272	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs574801999	chr13:40262317-40262318	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566468600	chr13:40262363-40262364	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570384719	chr13:40262370-40262371	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560596463	chr13:40262443-40262444	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs193008357	chr13:40262455-40262456	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146391167	chr13:40262478-40262479	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs139784432	chr13:40262502-40262503	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368400709	chr13:40262530-40262531	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs144379178	chr13:40262536-40262537	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs535593029	chr13:40262577-40262578	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs115902663	chr13:40262591-40262592	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185726955	chr13:40262605-40262606	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549209341	chr13:40262610-40262611	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs28517278	chr13:40262615-40262616	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529870461	chr13:40262657-40262658	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs111932438	chr13:40262665-40262666	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs566274110	chr13:40262672-40262673	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538208258	chr13:40262709-40262710	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191372331	chr13:40262730-40262731	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs9548881	chr13:40262760-40262761	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs538543876	chr13:40262795-40262796	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs144357244	chr13:40262834-40262835	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs368372322	chr13:40262838-40262839	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs75051701	chr13:40262935-40262936	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558160256	chr13:40262967-40262968	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534441388	chr13:40262968-40262969	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs577995705	chr13:40262981-40262982	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554297506	chr13:40262984-40262985	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs577422969	chr13:40262993-40262994	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs546192602	chr13:40263054-40263055	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs199622314	chr13:40263103-40263104	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562917812	chr13:40263121-40263122	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs76761043	chr13:40263143-40263144	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs544476550	chr13:40263159-40263160	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554208862	chr13:40263178-40263179	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs529832722	chr13:40263187-40263188	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs546400508	chr13:40263239-40263240	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs148735317	chr13:40263256-40263257	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Lung cancer	18438408	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
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	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
Prostate cancer	16573809	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
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	19242612	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
Chronic lymphocytic leukemia	20421269	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	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
Glioma	17146433	CNVD
Malignant glioma	17146433	CNVD
Sudden cardiac death	19188705	CNVD
Primary mediastinal b-cell lymphoma	17728785	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1325 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:40230600-40263800	Weak transcription	Spleen	Spleen
2	chr13:40230800-40262000	Weak transcription	Thymus	Thymus
3	chr13:40230800-40275000	Weak transcription	Right Ventricle	heart
4	chr13:40231000-40266200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr13:40231000-40270800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr13:40231000-40286000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr13:40231400-40264200	Weak transcription	Esophagus	oesophagus
8	chr13:40231400-40268000	Weak transcription	Small Intestine	intestine
9	chr13:40231600-40270200	Weak transcription	Gastric	stomach
10	chr13:40233000-40273600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr13:40233000-40295600	Weak transcription	Pancreas	Pancrea
12	chr13:40238000-40291600	Weak transcription	Fetal Intestine Small	intestine
13	chr13:40246200-40262800	Weak transcription	Fetal Heart	heart
14	chr13:40246400-40297400	Weak transcription	HUVEC	blood vessel
15	chr13:40253000-40266200	Weak transcription	Colon Smooth Muscle	Colon
16	chr13:40253400-40266600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr13:40254600-40264000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr13:40255000-40262400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr13:40255000-40262400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr13:40255000-40262400	Weak transcription	Aorta	Aorta
21	chr13:40255000-40263800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr13:40255000-40264200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr13:40255000-40266600	Weak transcription	Fetal Stomach	stomach
24	chr13:40255000-40268000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr13:40255000-40270000	Weak transcription	Lung	lung
26	chr13:40255000-40291200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr13:40255000-40306000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr13:40255200-40262400	Weak transcription	HSMMtube	muscle
29	chr13:40255200-40265800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr13:40255200-40272800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr13:40255200-40291000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr13:40255400-40262000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr13:40255400-40266800	Weak transcription	NHLF	lung
34	chr13:40255400-40272800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr13:40255600-40262000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr13:40255600-40262400	Weak transcription	Left Ventricle	heart
37	chr13:40255600-40262600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr13:40255600-40262800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr13:40255600-40264200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr13:40255600-40266800	Weak transcription	Brain Angular Gyrus	brain
41	chr13:40255600-40270800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr13:40255600-40272800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr13:40255600-40283600	Weak transcription	Fetal Brain Male	brain
44	chr13:40255800-40266600	Weak transcription	Brain Hippocampus Middle	brain
45	chr13:40255800-40271000	Weak transcription	Ovary	ovary
46	chr13:40255800-40283800	Weak transcription	Brain Anterior Caudate	brain
47	chr13:40255800-40340200	Weak transcription	Psoas Muscle	Psoas
48	chr13:40256800-40264800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr13:40257600-40264200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr13:40257600-40264600	Weak transcription	Fetal Thymus	thymus

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