Variant report

Variant	nsv591187
Chromosome Location	chr3:101358326-101359530
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:101290829..101293797-chr3:101356493..101360609,3	K562	blood:
2	chr3:101356897..101358626-chr3:101404065..101405889,2	K562	blood:
3	chr3:101290462..101294650-chr3:101353869..101359325,5	MCF-7	breast:
4	chr3:101357931..101359900-chr3:101366433..101368278,2	K562	blood:
5	chr3:101354125..101359417-chr3:101402279..101407297,7	K562	blood:
6	chr3:101292768..101294361-chr3:101357910..101360353,2	K562	blood:

Variant related genes	Relation type
ENSG00000081154	chromatin interactions
ENSG00000114391	chromatin interactions

Extended variants
information (count: 35 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4683853	chr3:101358326-101358327	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs545126754	chr3:101358381-101358382	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs560335343	chr3:101358382-101358383	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs56358067	chr3:101358402-101358403	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs543275678	chr3:101358432-101358433	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs150918837	chr3:101358473-101358474	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs532051650	chr3:101358521-101358522	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs538072567	chr3:101358533-101358534	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs574070710	chr3:101358587-101358588	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs556679331	chr3:101358588-101358589	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs140729871	chr3:101358592-101358593	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs201268876	chr3:101358602-101358603	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs188351028	chr3:101358627-101358628	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs565287001	chr3:101358641-101358642	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs144640080	chr3:101358682-101358683	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs547380997	chr3:101358711-101358712	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs113939398	chr3:101358726-101358727	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs565873132	chr3:101358732-101358733	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs536326034	chr3:101358740-101358741	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs548788256	chr3:101358760-101358761	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs567315363	chr3:101358791-101358792	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs138576571	chr3:101358896-101358897	Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs556135813	chr3:101359020-101359021	Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs577865110	chr3:101359071-101359072	Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs141665646	chr3:101359090-101359091	Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs191053121	chr3:101359147-101359148	Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs572196459	chr3:101359206-101359207	Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs542714433	chr3:101359252-101359253	Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs145446915	chr3:101359253-101359254	Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs576517507	chr3:101359302-101359303	Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs542802048	chr3:101359315-101359316	Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs181834393	chr3:101359344-101359345	Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs532654082	chr3:101359354-101359355	Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs186489273	chr3:101359484-101359485	Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs190579248	chr3:101359504-101359505	Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21785460	CNVD
Breast cancer	22522925	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:101350600-101366800	Weak transcription	Fetal Brain Female	brain
2	chr3:101354800-101366800	Weak transcription	Fetal Muscle Leg	muscle
3	chr3:101355000-101366800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:101355200-101363000	Weak transcription	Fetal Thymus	thymus
5	chr3:101355200-101365000	Weak transcription	Right Atrium	heart
6	chr3:101355200-101367400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr3:101355200-101367600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr3:101355600-101366400	Weak transcription	Primary B cells from peripheral blood	blood
9	chr3:101355600-101366600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:101355600-101366600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr3:101355600-101366600	Weak transcription	Adipose Nuclei	Adipose
12	chr3:101355600-101367000	Weak transcription	A549	lung
13	chr3:101355600-101367000	Weak transcription	Dnd41	blood
14	chr3:101355600-101367400	Weak transcription	Right Ventricle	heart
15	chr3:101355600-101368600	Weak transcription	GM12878-XiMat	blood
16	chr3:101356000-101367400	Weak transcription	Aorta	Aorta
17	chr3:101356800-101362400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr3:101357400-101361400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr3:101357400-101362000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr3:101357400-101362200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr3:101357400-101362200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr3:101357400-101362400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr3:101357400-101366600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr3:101357400-101367400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:101357600-101360800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr3:101357600-101362000	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr3:101357600-101362200	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr3:101357800-101359800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr3:101357800-101362000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr3:101357800-101362000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr3:101357800-101362000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr3:101357800-101365600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:101357800-101369400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr3:101358000-101362600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr3:101358200-101358800	Active TSS	K562	blood
36	chr3:101358800-101360000	Transcr. at gene 5' and 3'	K562	blood
37	chr3:101359200-101362600	Weak transcription	Primary T cells from cord blood	blood

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