Variant report

Variant	nsv822306
Chromosome Location	chr3:160153049-160157348
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:160146751..160150708-chr3:160150793..160158045,9	K562	blood:
2	chr3:160150419..160152165-chr3:160152577..160155535,2	MCF-7	breast:
3	chr3:160155647..160158361-chr3:160282642..160284946,2	K562	blood:
4	chr3:160151917..160153434-chr3:160284068..160286337,2	K562	blood:
5	chr3:160154300..160157981-chr3:160166786..160169442,5	MCF-7	breast:
6	chr3:160156708..160158312-chr3:160288090..160290046,2	K562	blood:
7	chr3:160151726..160153417-chr3:160283413..160286337,2	K562	blood:
8	chr3:160155252..160156895-chr3:160203949..160205865,2	K562	blood:
9	chr3:160127599..160131672-chr3:160150363..160154041,6	K562	blood:
10	chr3:160152431..160159028-chr3:160159168..160164097,7	MCF-7	breast:
11	chr3:160127401..160129476-chr3:160154855..160157370,2	K562	blood:
12	chr3:160150735..160153706-chr3:160166158..160168852,2	MCF-7	breast:
13	chr3:160134197..160136413-chr3:160155617..160157312,2	K562	blood:

No data

(count:2 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	TRIM59	hsa-miR-130b-3p	chr3:160153819-160153840
2	TRIM59	hsa-miR-148a-3p	chr3:160153818-160153839

Variant related genes	Relation type
ENSG00000213186	chromatin interactions
ENSG00000113810	chromatin interactions
ENSG00000186432	chromatin interactions
ENSG00000229320	chromatin interactions

Extended variants
information (count: 224 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:224 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536745680	chr3:160153083-160153084	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs142164565	chr3:160153097-160153098	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs570039265	chr3:160153115-160153116	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs537001981	chr3:160153119-160153120	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs186821101	chr3:160153121-160153122	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs151179378	chr3:160153141-160153142	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs192129266	chr3:160153198-160153199	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs534543422	chr3:160153257-160153258	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs183890816	chr3:160153303-160153304	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs7629	chr3:160153305-160153306	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs140278536	chr3:160153311-160153312	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs145272486	chr3:160153313-160153314	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs367845022	chr3:160153332-160153333	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs554826264	chr3:160153349-160153350	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs137894412	chr3:160153421-160153422	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs15470	chr3:160153496-160153497	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs578057616	chr3:160153499-160153500	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs532831283	chr3:160153513-160153514	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs140759771	chr3:160153516-160153517	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs555551195	chr3:160153532-160153533	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs559885713	chr3:160153576-160153577	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs530190765	chr3:160153581-160153582	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs3180411	chr3:160153601-160153602	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs570027023	chr3:160153623-160153624	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs374616889	chr3:160153644-160153645	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs141142462	chr3:160153689-160153690	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs200962955	chr3:160153690-160153691	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs575005945	chr3:160153740-160153741	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs150286135	chr3:160153789-160153790	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs537471564	chr3:160153792-160153793	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs552139192	chr3:160153793-160153794	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs570443312	chr3:160153806-160153807	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs534602878	chr3:160153826-160153827	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region miRNA target site	2 gene(s)	Overlapped CNVs	n/a
34	rs573087967	chr3:160153867-160153868	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs187944293	chr3:160153870-160153871	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs574585666	chr3:160153914-160153915	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs191253727	chr3:160153946-160153947	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs560042511	chr3:160153981-160153982	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs6785881	chr3:160153989-160153990	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs62272246	chr3:160153994-160153995	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs371116374	chr3:160154024-160154025	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs62272247	chr3:160154046-160154047	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs114025250	chr3:160154060-160154061	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs564066287	chr3:160154106-160154107	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs577650384	chr3:160154120-160154121	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs541752181	chr3:160154121-160154122	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs559747167	chr3:160154131-160154132	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs138943976	chr3:160154204-160154205	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs542026412	chr3:160154205-160154206	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs563841494	chr3:160154212-160154213	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Effusion lymphoma	18079361	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Cancer	20164919	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:254 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160120200-160164400	Weak transcription	Fetal Brain Male	brain
2	chr3:160121200-160157200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
3	chr3:160121200-160157400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:160121200-160157800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
5	chr3:160122000-160161000	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr3:160122000-160164400	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr3:160122000-160164600	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr3:160122200-160157400	Strong transcription	Fetal Thymus	thymus
9	chr3:160122600-160155000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:160122600-160156600	Strong transcription	K562	blood
11	chr3:160122800-160154200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr3:160123000-160153600	Weak transcription	Brain Anterior Caudate	brain
13	chr3:160123200-160155400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:160124000-160159000	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr3:160124600-160155000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr3:160125200-160159800	Strong transcription	HSMM	muscle
17	chr3:160127800-160154000	Strong transcription	HMEC	breast
18	chr3:160127800-160157000	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr3:160128000-160154200	Strong transcription	Dnd41	blood
20	chr3:160128400-160157200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr3:160128600-160158200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr3:160129600-160156600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:160129600-160157000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr3:160130000-160155000	Strong transcription	Placenta	Placenta
25	chr3:160130000-160166200	Weak transcription	Colon Smooth Muscle	Colon
26	chr3:160130400-160154000	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr3:160130400-160157400	Strong transcription	NH-A	brain
28	chr3:160132000-160154200	Strong transcription	Duodenum Mucosa	Duodenum
29	chr3:160132000-160158800	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr3:160132200-160153200	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr3:160132200-160157000	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr3:160132400-160153200	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr3:160132400-160154200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr3:160132400-160154200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr3:160133800-160164600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr3:160134600-160156800	Strong transcription	HUVEC	blood vessel
37	chr3:160134800-160158800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr3:160135000-160159200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr3:160136800-160153600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr3:160136800-160157400	Strong transcription	NHDF-Ad	bronchial
41	chr3:160137800-160158800	Strong transcription	Primary B cells from cord blood	blood
42	chr3:160138000-160153400	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr3:160139600-160157000	Strong transcription	Fetal Lung	lung
44	chr3:160140800-160166600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr3:160141000-160153200	Strong transcription	Liver	Liver
46	chr3:160141400-160153600	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr3:160142400-160164400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr3:160143400-160156400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr3:160143600-160154000	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr3:160143600-160156600	Strong transcription	Primary hematopoietic stem cells	blood

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