Variant report

Variant	nsv974091
Chromosome Location	chr13:53230050-53232950
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:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:53224982..53228384-chr13:53228728..53231432,4	MCF-7	breast:
2	chr13:53189836..53192500-chr13:53230172..53233036,2	MCF-7	breast:
3	chr13:53226553..53228501-chr13:53232200..53235094,4	K562	blood:
4	chr13:53224978..53226990-chr13:53228538..53230791,2	K562	blood:
5	chr13:53227001..53228645-chr13:53232234..53234717,3	K562	blood:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	SUGT1	hsa-miR-34a-5p	chr13:53232568-53232590

Variant related genes	Relation type
ENSG00000139675	chromatin interactions
ENSG00000250299	chromatin interactions
ENSG00000165416	chromatin interactions

Extended variants
information (count: 101 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370168523	chr13:53230116-53230117	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs530428983	chr13:53230125-53230126	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs550463739	chr13:53230173-53230174	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs564162208	chr13:53230244-53230245	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs570254286	chr13:53230267-53230268	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs532576762	chr13:53230287-53230288	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs140677995	chr13:53230299-53230300	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs571245295	chr13:53230314-53230315	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs570981364	chr13:53230350-53230351	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs533588396	chr13:53230373-53230374	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs12430482	chr13:53230388-53230389	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs566880029	chr13:53230410-53230411	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs536154637	chr13:53230442-53230443	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs556009770	chr13:53230456-53230457	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs150167825	chr13:53230484-53230485	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs78119451	chr13:53230538-53230539	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs541801293	chr13:53230552-53230553	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs181035715	chr13:53230595-53230596	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs572454630	chr13:53230660-53230661	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs185823263	chr13:53230682-53230683	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs561285175	chr13:53230683-53230684	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs530089070	chr13:53230697-53230698	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs544157533	chr13:53230701-53230702	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs529095094	chr13:53230714-53230715	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs557791593	chr13:53230746-53230747	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs563814206	chr13:53230753-53230754	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs549223087	chr13:53230758-53230759	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs113888464	chr13:53230826-53230827	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs560093693	chr13:53230845-53230846	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs191512917	chr13:53230863-53230864	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs566217546	chr13:53230872-53230873	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs527393361	chr13:53230916-53230917	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs4885767	chr13:53230983-53230984	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs545789995	chr13:53230997-53230998	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs17056500	chr13:53231051-53231052	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs141844018	chr13:53231096-53231097	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs7334137	chr13:53231165-53231166	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs531324714	chr13:53231176-53231177	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs556453802	chr13:53231225-53231226	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs569851758	chr13:53231252-53231253	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs7334677	chr13:53231255-53231256	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs558483758	chr13:53231304-53231305	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs572238709	chr13:53231388-53231389	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs74087399	chr13:53231443-53231444	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs7335091	chr13:53231454-53231455	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs371086616	chr13:53231464-53231465	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs7997793	chr13:53231471-53231472	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs146257485	chr13:53231475-53231476	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs6561675	chr13:53231523-53231524	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs577471251	chr13:53231537-53231538	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:111)

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
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
Acute lymphoblastic leukemia	22237106	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
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
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	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
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	18852474	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:248 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53227600-53235000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr13:53227800-53238600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr13:53227800-53238800	Weak transcription	Esophagus	oesophagus
4	chr13:53227800-53260000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr13:53228000-53251000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr13:53228200-53230600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr13:53228200-53232200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr13:53228200-53256400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr13:53228400-53230200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr13:53228400-53230400	Enhancers	Colon Smooth Muscle	Colon
11	chr13:53228400-53230600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr13:53228400-53230600	Weak transcription	Fetal Thymus	thymus
13	chr13:53228400-53230800	Enhancers	Liver	Liver
14	chr13:53228400-53230800	Enhancers	Brain Substantia Nigra	brain
15	chr13:53228400-53231800	Weak transcription	Placenta	Placenta
16	chr13:53228400-53232000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr13:53228400-53232000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr13:53228400-53233400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr13:53228400-53233400	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr13:53228400-53234200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr13:53228400-53234200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr13:53228400-53234800	Weak transcription	Aorta	Aorta
23	chr13:53228400-53234800	Weak transcription	Fetal Intestine Small	intestine
24	chr13:53228400-53235400	Weak transcription	Lung	lung
25	chr13:53228400-53236200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr13:53228400-53236200	Weak transcription	HSMMtube	muscle
27	chr13:53228400-53242000	Weak transcription	Thymus	Thymus
28	chr13:53228400-53254600	Weak transcription	Colonic Mucosa	Colon
29	chr13:53228600-53230600	Enhancers	Hela-S3	cervix
30	chr13:53228600-53232200	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr13:53228600-53232400	Strong transcription	Primary B cells from cord blood	blood
32	chr13:53228600-53254600	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr13:53228800-53230200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr13:53228800-53230600	Enhancers	Fetal Brain Male	brain
35	chr13:53228800-53230600	Genic enhancers	HUVEC	blood vessel
36	chr13:53228800-53230800	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr13:53228800-53230800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr13:53228800-53231800	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr13:53228800-53231800	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr13:53228800-53231800	Weak transcription	Fetal Intestine Large	intestine
41	chr13:53228800-53232200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr13:53228800-53232400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr13:53228800-53232400	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr13:53228800-53233400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr13:53228800-53234400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr13:53228800-53234400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr13:53228800-53234400	Weak transcription	Psoas Muscle	Psoas
48	chr13:53228800-53234400	Weak transcription	Rectal Smooth Muscle	rectum
49	chr13:53228800-53235000	Weak transcription	Fetal Stomach	stomach
50	chr13:53228800-53237600	Weak transcription	A549	lung

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