Variant report

Variant	nsv1008057
Chromosome Location	chr3:93519466-93624156
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:93560633-93560810	HepG2	liver:	n/a	n/a
2	ARID3A	chr3:93560605-93560733	K562	blood:	n/a	n/a
3	CBX3	chr3:93560363-93560688	HCT-116	colon:	n/a	n/a
4	CEBPB	chr3:93560370-93560707	A549	lung:	n/a	n/a
5	CEBPB	chr3:93560451-93560821	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr3:93560514-93560789	A549	lung:	n/a	n/a
7	CEBPB	chr3:93577008-93577134	A549	lung:	n/a	n/a
8	CEBPB	chr3:93560459-93560814	IMR90	lung:	n/a	n/a
9	CEBPB	chr3:93574844-93574994	K562	blood:	n/a	n/a
10	CEBPB	chr3:93560562-93560819	K562	blood:	n/a	n/a
11	CEBPB	chr3:93615540-93615692	K562	blood:	n/a	chr3:93615585-93615598
12	CEBPB	chr3:93560563-93560817	HepG2	liver:	n/a	n/a
13	CTCF	chr3:93586320-93586470	K562	blood:	n/a	n/a
14	CTCF	chr3:93560592-93560791	ProgFib	skin:	n/a	chr3:93560691-93560712 chr3:93560696-93560714
15	CTCF	chr3:93560700-93560850	HVMF	connective:	n/a	n/a
16	CTCF	chr3:93560700-93560850	A549	lung:	n/a	n/a
17	CTCF	chr3:93560660-93560810	HEK293	kidney:	n/a	chr3:93560691-93560712 chr3:93560696-93560714
18	CTCF	chr3:93586388-93586512	A549	lung:	n/a	chr3:93586453-93586471
19	CTCF	chr3:93560540-93560690	GM12868	blood:	n/a	n/a
20	CTCF	chr3:93560600-93560750	AG10803	skin:	n/a	chr3:93560691-93560712 chr3:93560696-93560714
21	CTCF	chr3:93560620-93560770	WERI-Rb-1	eye:	n/a	chr3:93560691-93560712 chr3:93560696-93560714
22	CTCF	chr3:93560660-93560810	HPAF	blood vessel:	n/a	chr3:93560691-93560712 chr3:93560696-93560714
23	CTCF	chr3:93560660-93560810	AoAF	blood vessel:	n/a	chr3:93560691-93560712 chr3:93560696-93560714
24	CTCF	chr3:93560480-93560630	GM12864	blood:	n/a	n/a
25	CTCF	chr3:93586360-93586510	SAEC	small airway:	n/a	chr3:93586453-93586471
26	CTCF	chr3:93560500-93560650	RPTEC	kidney:	n/a	n/a
27	CTCF	chr3:93560780-93560930	GM12872	blood:	n/a	n/a
28	CTCF	chr3:93560680-93560830	BJ	skin:	n/a	chr3:93560691-93560712 chr3:93560696-93560714
29	CTCF	chr3:93586380-93586530	SK-N-SH_RA	brain:	n/a	chr3:93586453-93586471
30	CTCF	chr3:93560620-93560770	HCPEpiC	choroid plexus:	n/a	chr3:93560691-93560712 chr3:93560696-93560714
31	CTCF	chr3:93560700-93560850	NHDF-neo	bronchial:	n/a	n/a
32	CTCF	chr3:93560500-93560650	GM12872	blood:	n/a	n/a
33	CTCF	chr3:93560500-93560650	NHDF-neo	bronchial:	n/a	n/a
34	CTCF	chr3:93560612-93560845	GM20000	blood:	n/a	chr3:93560691-93560712 chr3:93560696-93560714
35	CTCF	chr3:93560700-93560850	HFF-Myc	foreskin:	n/a	n/a
36	CTCF	chr3:93586400-93586550	MCF-7	breast:	n/a	chr3:93586453-93586471
37	CTCF	chr3:93600004-93600063	Kidney_OC	kidney:	n/a	n/a
38	CTCF	chr3:93560740-93560890	HPF	lung:	n/a	n/a
39	CTCF	chr3:93560603-93560727	GM19239	blood:	n/a	chr3:93560691-93560712 chr3:93560696-93560714
40	CTCF	chr3:93560600-93560750	GM06990	blood:	n/a	chr3:93560691-93560712 chr3:93560696-93560714
41	CTCF	chr3:93586540-93586690	A549	lung:	n/a	n/a
42	CTCF	chr3:93560644-93560750	MCF-7	breast:	n/a	chr3:93560691-93560712 chr3:93560696-93560714
43	CTCF	chr3:93560480-93560630	GM12873	blood:	n/a	n/a
44	CTCF	chr3:93560500-93560650	MCF-7	breast:	n/a	n/a
45	CTCF	chr3:93560500-93560650	HVMF	connective:	n/a	n/a
46	CTCF	chr3:93560615-93560779	GM13976	blood:	n/a	chr3:93560691-93560712 chr3:93560696-93560714
47	CTCF	chr3:93560500-93560650	AG09309	skin:	n/a	n/a
48	CTCF	chr3:93560640-93560790	AG09319	gingival:	n/a	chr3:93560691-93560712 chr3:93560696-93560714
49	CTCF	chr3:93560720-93560870	WERI-Rb-1	eye:	n/a	n/a
50	CTCF	chr3:93560559-93560850	GM12878	blood:	n/a	chr3:93560691-93560712 chr3:93560696-93560714

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:93592719-93592769	SAEC	small airway:	n/a
2	chr3:93592719-93592769	HNPCEpiC	eye:	n/a
3	chr3:93592719-93592769	T-47D	breast:	n/a
4	chr3:93592719-93592769	A549	lung:	n/a
5	chr3:93592719-93592769	MCF-7	breast:	n/a
6	chr3:93592719-93592769	HCF	heart:	n/a
7	chr3:93592719-93592769	HEEpiC	esophagus:	n/a
8	chr3:93592719-93592769	GM12891	blood:	n/a
9	chr3:93592719-93592769	AG09309	skin:	n/a
10	chr3:93592719-93592769	NT2-D1	testis:	n/a
11	chr3:93592719-93592769	HCM	heart:	n/a
12	chr3:93592719-93592769	NHDF-neo	bronchial:	n/a
13	chr3:93592719-93592769	GM12892	blood:	n/a
14	chr3:93592719-93592769	Hela-S3	cervix:	n/a
15	chr3:93592719-93592769	SK-N-SH	brain:	n/a
16	chr3:93592719-93592769	U87	brain:	n/a
17	chr3:93592719-93592769	HEK293	kidney:	embryo
18	chr3:93592719-93592769	HRPEpiC	eye:	n/a
19	chr3:93592719-93592769	HMEC	breast:	n/a
20	chr3:93592719-93592769	ECC-1	luminal epithelium:	n/a
21	chr3:93592719-93592769	AG10803	skin:	n/a
22	chr3:93592719-93592769	NH-A	brain:	n/a
23	chr3:93592719-93592769	HIPEpiC	eye:	n/a
24	chr3:93592719-93592769	HAEpiC	amniotic membrane:	n/a
25	chr3:93592719-93592769	HRCEpiC	kidney:	n/a
26	chr3:93592719-93592769	LNCaP	prostate:	n/a
27	chr3:93592719-93592769	NB4	blood:	n/a
28	chr3:93592719-93592769	Jurkat	blood:	n/a
29	chr3:93592719-93592769	MCF10A-Er-Src	breast:	n/a
30	chr3:93592719-93592769	HL-60	blood:	n/a
31	chr3:93592719-93592769	HCPEpiC	choroid plexus:	n/a
32	chr3:93592719-93592769	K562	blood:	n/a
33	chr3:93592719-93592769	HCT-116	colon:	n/a
34	chr3:93592719-93592769	AG09319	gingival:	n/a
35	chr3:93592719-93592769	HPAEpiC	pulmonary alveolar:	n/a
36	chr3:93592719-93592769	SK-N-SH_RA	brain:	n/a
37	chr3:93592719-93592769	NHBE	bronchial:	n/a
38	chr3:93592719-93592769	H1-hESC	embryonic stem cell:	embryo
39	chr3:93592719-93592769	AG04450	lung:	fetal
40	chr3:93592719-93592769	GM12878	blood:	n/a
41	chr3:93592719-93592769	RPTEC	kidney:	n/a
42	chr3:93592719-93592769	AG04449	skin:	fetal
43	chr3:93592719-93592769	SKMC	muscle:	n/a
44	chr3:93592719-93592769	HUVEC	blood vessel:	n/a
45	chr3:93592719-93592769	PrEC	prostate:	n/a
46	chr3:93592719-93592769	BJ	skin:	n/a
47	chr3:93592719-93592769	GM19239	blood:	n/a
48	chr3:93592719-93592769	BE2_C	brain:	n/a
49	chr3:93592719-93592769	CMK	blood:	n/a
50	chr3:93592719-93592769	HRE	kidney:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:93571786..93573423-chr3:93699770..93701438,2	K562	blood:
2	chr3:93614459..93614996-chr5:160095807..160096625,2	MCF-7	breast:

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	PROS1	hsa-miR-335-5p	chr3:93592888-93592909

Variant related genes	Relation type
RNU6-488P	TF binding region
RNU6-488P	CpG island

Extended variants
information (count: 2074 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:2074 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144226673	chr3:93540604-93540605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs144416914	chr3:93540605-93540606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558503716	chr3:93540614-93540615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533411777	chr3:93540659-93540660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552192612	chr3:93540670-93540671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs9799126	chr3:93540674-93540675	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs374039602	chr3:93540696-93540697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537578116	chr3:93540702-93540703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181364085	chr3:93540750-93540751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574152495	chr3:93540795-93540796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185498590	chr3:93540804-93540805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs376932104	chr3:93540822-93540823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190061182	chr3:93540827-93540828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs142584610	chr3:93540832-93540833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534002798	chr3:93540837-93540838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553640592	chr3:93540853-93540854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577115392	chr3:93540856-93540857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs202018185	chr3:93540864-93540865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545768050	chr3:93540865-93540866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs150955988	chr3:93540882-93540883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563029705	chr3:93540884-93540885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs533682543	chr3:93540888-93540889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182968563	chr3:93540893-93540894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116541937	chr3:93540894-93540895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs562179150	chr3:93540901-93540902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs34058845	chr3:93540911-93540912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs527745409	chr3:93540920-93540921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs140677534	chr3:93540949-93540950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185900749	chr3:93540965-93540966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs533716416	chr3:93540971-93540972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372304580	chr3:93540977-93540978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs190907429	chr3:93541020-93541021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs146639451	chr3:93541026-93541027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs375770521	chr3:93541031-93541032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531222004	chr3:93541083-93541084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs9283577	chr3:93541117-93541118	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs376584233	chr3:93541152-93541153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs369789060	chr3:93541159-93541160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183991727	chr3:93541175-93541176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs34511846	chr3:93541180-93541181	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs570536154	chr3:93541209-93541210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs539747031	chr3:93541219-93541220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs374682996	chr3:93541224-93541225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576370985	chr3:93541345-93541346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs535859051	chr3:93541377-93541378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs555750794	chr3:93541394-93541395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs572617405	chr3:93541399-93541400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs567912798	chr3:93558033-93558034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs140702281	chr3:93558043-93558044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs184339702	chr3:93558076-93558077	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Oral cancer	21386901	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
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	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
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:93540600-93541400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr3:93558000-93558400	Enhancers	Osteobl	bone
3	chr3:93558200-93559200	Enhancers	Muscle Satellite Cultured Cells	--
4	chr3:93558400-93558800	Weak transcription	Osteobl	bone
5	chr3:93558600-93560200	Weak transcription	Psoas Muscle	Psoas
6	chr3:93558800-93559000	Enhancers	Osteobl	bone
7	chr3:93559000-93560200	Weak transcription	Osteobl	bone
8	chr3:93559200-93560200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr3:93560000-93560200	Enhancers	Adipose Nuclei	Adipose
10	chr3:93560000-93560200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr3:93560000-93560200	Enhancers	Fetal Muscle Trunk	muscle
12	chr3:93560200-93560400	Enhancers	Primary B cells from peripheral blood	blood
13	chr3:93560200-93560400	Enhancers	Primary T cells fromperipheralblood	blood
14	chr3:93560200-93560400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr3:93560200-93560400	Enhancers	HUVEC	blood vessel
16	chr3:93560200-93560600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr3:93560200-93560600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr3:93560200-93560600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr3:93560200-93560600	Active TSS	Muscle Satellite Cultured Cells	--
20	chr3:93560200-93560600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr3:93560200-93560600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr3:93560200-93560600	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr3:93560200-93560600	Active TSS	Aorta	Aorta
24	chr3:93560200-93560600	Flanking Active TSS	Liver	Liver
25	chr3:93560200-93560600	Active TSS	Brain Anterior Caudate	brain
26	chr3:93560200-93560600	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr3:93560200-93560600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr3:93560200-93560600	Active TSS	Colon Smooth Muscle	Colon
29	chr3:93560200-93560600	Active TSS	Duodenum Mucosa	Duodenum
30	chr3:93560200-93560600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
31	chr3:93560200-93560600	Active TSS	Fetal Intestine Small	intestine
32	chr3:93560200-93560600	Flanking Active TSS	Fetal Muscle Trunk	muscle
33	chr3:93560200-93560600	Enhancers	Placenta	Placenta
34	chr3:93560200-93560600	Active TSS	Psoas Muscle	Psoas
35	chr3:93560200-93560600	Active TSS	Rectal Mucosa Donor 31	rectum
36	chr3:93560200-93560600	Active TSS	Rectal Smooth Muscle	rectum
37	chr3:93560200-93560600	Active TSS	Right Atrium	heart
38	chr3:93560200-93560600	Active TSS	Right Ventricle	heart
39	chr3:93560200-93560600	Active TSS	HMEC	breast
40	chr3:93560200-93560600	Active TSS	NH-A	brain
41	chr3:93560200-93560600	Active TSS	NHDF-Ad	bronchial
42	chr3:93560200-93560800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr3:93560200-93560800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr3:93560200-93560800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr3:93560200-93560800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr3:93560200-93560800	Active TSS	Primary T helper cells fromperipheralblood	blood
47	chr3:93560200-93560800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr3:93560200-93560800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr3:93560200-93560800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr3:93560200-93560800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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