Variant report

Variant	nsv983709
Chromosome Location	chr13:49086347-49097905
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:49095286..49097037-chr13:49105888..49108519,2	K562	blood:
2	chr13:49081743..49084542-chr13:49085954..49089235,3	K562	blood:
3	chr13:49088221..49089957-chr13:49104157..49106836,2	MCF-7	breast:
4	chr13:49092880..49094928-chr13:49105552..49108386,2	K562	blood:
5	chr13:49092461..49094974-chr13:49098743..49100899,2	K562	blood:
6	chr13:49090774..49093179-chr13:49096004..49098974,2	K562	blood:
7	chr13:49087919..49090569-chr13:49105572..49108437,2	MCF-7	breast:
8	chr13:49093025..49094796-chr13:49104131..49108138,4	MCF-7	breast:
9	chr13:49096194..49098388-chr13:49103789..49106979,3	MCF-7	breast:
10	chr13:49090774..49093911-chr13:49094520..49097762,3	K562	blood:
11	chr13:49094520..49096357-chr13:49101326..49103599,2	MCF-7	breast:
12	chr13:49090774..49093911-chr13:49094520..49097762,3	K562	blood:
13	chr13:49090774..49093179-chr13:49096004..49098974,2	K562	blood:
14	chr13:49097151..49098767-chr13:49101729..49104209,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000136161	chromatin interactions

Extended variants
information (count: 415 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:415 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576624614	chr13:49086376-49086377	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs540866975	chr13:49086386-49086387	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs559291545	chr13:49086387-49086388	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs527737510	chr13:49086392-49086393	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs542775363	chr13:49086393-49086394	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs554013845	chr13:49086413-49086414	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561298956	chr13:49086418-49086419	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531770818	chr13:49086421-49086422	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550470314	chr13:49086430-49086431	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572020585	chr13:49086450-49086451	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532746217	chr13:49086498-49086499	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs112374167	chr13:49086559-49086560	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs386770810	chr13:49086598-49086599	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs6561453	chr13:49086599-49086600	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs151171441	chr13:49086617-49086618	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569295258	chr13:49086632-49086633	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs6561454	chr13:49086641-49086642	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs111267607	chr13:49086675-49086676	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184784769	chr13:49086692-49086693	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574672737	chr13:49086701-49086702	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73479241	chr13:49086767-49086768	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs534606911	chr13:49086769-49086770	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576434010	chr13:49086794-49086795	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs553102487	chr13:49086800-49086801	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs35061928	chr13:49086813-49086814	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs877938	chr13:49086814-49086815	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs368376267	chr13:49086826-49086827	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs371840036	chr13:49086827-49086828	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543089676	chr13:49086849-49086850	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs189153804	chr13:49086851-49086852	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs199638083	chr13:49086880-49086881	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200758614	chr13:49086893-49086894	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs545178348	chr13:49086930-49086931	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs5803440	chr13:49086938-49086939	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs139171322	chr13:49086963-49086964	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576504671	chr13:49086980-49086981	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs140144103	chr13:49087047-49087048	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs200382381	chr13:49087068-49087069	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs372271541	chr13:49087073-49087074	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs150361530	chr13:49087084-49087085	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs559863550	chr13:49087085-49087086	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs527674797	chr13:49087092-49087093	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs548246552	chr13:49087130-49087131	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs541054947	chr13:49087144-49087145	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs569452689	chr13:49087154-49087155	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs536759226	chr13:49087235-49087236	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7317090	chr13:49087281-49087282	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs181580674	chr13:49087309-49087310	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186940891	chr13:49087318-49087319	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191284335	chr13:49087359-49087360	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:120)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	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
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
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
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
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Myelofibrosis	22110671	CNVD
Hereditary prostate cancer	22028916	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Prostate cancer	17217626	CNVD
Ovarian cancer	21781307	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Chronic myeloid leukemia	21384125	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:238 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49054000-49094000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:49063000-49087800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr13:49067200-49105200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr13:49067200-49105400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr13:49067800-49098000	Weak transcription	Right Ventricle	heart
6	chr13:49068000-49105600	Weak transcription	Gastric	stomach
7	chr13:49068200-49102600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr13:49071200-49105600	Weak transcription	Fetal Brain Male	brain
9	chr13:49071800-49105800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr13:49072000-49088400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr13:49072200-49095600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr13:49073600-49087800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr13:49075600-49093400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr13:49075600-49095200	Weak transcription	Fetal Intestine Large	intestine
15	chr13:49075800-49088400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr13:49075800-49093200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr13:49076600-49097400	Weak transcription	Pancreas	Pancrea
18	chr13:49079600-49091000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr13:49079600-49092200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr13:49080600-49087800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr13:49080600-49105600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr13:49080800-49087400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr13:49080800-49102200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr13:49080800-49105400	Weak transcription	Duodenum Mucosa	Duodenum
25	chr13:49081000-49090200	Weak transcription	HSMM	muscle
26	chr13:49081400-49088600	Weak transcription	Primary hematopoietic stem cells	blood
27	chr13:49081400-49105600	Weak transcription	Placenta	Placenta
28	chr13:49081600-49088000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr13:49082000-49086800	Weak transcription	Thymus	Thymus
30	chr13:49082600-49087000	Strong transcription	Fetal Brain Female	brain
31	chr13:49083000-49087000	Strong transcription	Fetal Lung	lung
32	chr13:49083400-49094400	Weak transcription	Fetal Intestine Small	intestine
33	chr13:49083400-49095800	Weak transcription	Spleen	Spleen
34	chr13:49083800-49105600	Weak transcription	Esophagus	oesophagus
35	chr13:49084800-49086400	Strong transcription	Brain Germinal Matrix	brain
36	chr13:49084800-49086400	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr13:49085000-49086600	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr13:49085000-49087200	Strong transcription	GM12878-XiMat	blood
39	chr13:49085000-49088400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr13:49085000-49091200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr13:49085000-49096000	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr13:49085000-49096600	Weak transcription	Small Intestine	intestine
43	chr13:49085000-49104800	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr13:49085000-49104800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr13:49085200-49086800	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr13:49085200-49096000	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr13:49085200-49100400	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr13:49085200-49105600	Weak transcription	Fetal Thymus	thymus
49	chr13:49085600-49086400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr13:49085600-49087000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links