Variant report

Variant	nsv511216
Chromosome Location	chr3:101349644-101366921
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:702)
CpG islands
(count:0)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:702 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:101361093-101361626	K562	blood:	n/a	n/a
2	ARID3A	chr3:101356991-101357339	K562	blood:	n/a	n/a
3	ARID3A	chr3:101351004-101351245	K562	blood:	n/a	n/a
4	ARID3A	chr3:101360365-101360752	K562	blood:	n/a	n/a
5	ARID3A	chr3:101359815-101359913	K562	blood:	n/a	n/a
6	ARID3A	chr3:101362255-101362257	K562	blood:	n/a	n/a
7	ARID3A	chr3:101355267-101355349	HepG2	liver:	n/a	n/a
8	ARID3A	chr3:101354207-101354432	K562	blood:	n/a	n/a
9	ARID3A	chr3:101355201-101355517	K562	blood:	n/a	n/a
10	ARID3A	chr3:101359236-101359436	K562	blood:	n/a	n/a
11	ARID3A	chr3:101362732-101363021	K562	blood:	n/a	n/a
12	ATF1	chr3:101362827-101363241	K562	blood:	n/a	n/a
13	ATF1	chr3:101350961-101351288	K562	blood:	n/a	n/a
14	ATF1	chr3:101359225-101359625	K562	blood:	n/a	n/a
15	ATF1	chr3:101361245-101361583	K562	blood:	n/a	n/a
16	ATF1	chr3:101360466-101360827	K562	blood:	n/a	n/a
17	ATF3	chr3:101354149-101354566	K562	blood:	n/a	n/a
18	BACH1	chr3:101354206-101354221	K562	blood:	n/a	n/a
19	BHLHE40	chr3:101356930-101357299	K562	blood:	n/a	n/a
20	BHLHE40	chr3:101356400-101356547	K562	blood:	n/a	n/a
21	BHLHE40	chr3:101361287-101361626	K562	blood:	n/a	n/a
22	BHLHE40	chr3:101355011-101355208	K562	blood:	n/a	n/a
23	BHLHE40	chr3:101360557-101360587	K562	blood:	n/a	n/a
24	BHLHE40	chr3:101353500-101353958	K562	blood:	n/a	n/a
25	BHLHE40	chr3:101357627-101357689	K562	blood:	n/a	n/a
26	CCNT2	chr3:101361439-101361590	K562	blood:	n/a	n/a
27	CCNT2	chr3:101360463-101360967	K562	blood:	n/a	n/a
28	CEBPB	chr3:101359827-101359896	K562	blood:	n/a	n/a
29	CEBPB	chr3:101360213-101360686	K562	blood:	n/a	n/a
30	CEBPB	chr3:101355123-101355372	K562	blood:	n/a	n/a
31	CEBPB	chr3:101362774-101363016	Hela-S3	cervix:	n/a	n/a
32	CEBPD	chr3:101360267-101360795	K562	blood:	n/a	n/a
33	CHD2	chr3:101362031-101362210	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr3:101355100-101355250	GM12878	blood:	n/a	n/a
35	CTCF	chr3:101355180-101355330	HEEpiC	esophagus:	n/a	n/a
36	CTCF	chr3:101355054-101355374	A549	lung:	n/a	n/a
37	CTCF	chr3:101355096-101355382	GM12892	blood:	n/a	n/a
38	CTCF	chr3:101355093-101355384	Gliobla	brain:	n/a	n/a
39	CTCF	chr3:101357118-101357201	NHEK	skin:	n/a	n/a
40	CTCF	chr3:101355160-101355310	GM12864	blood:	n/a	n/a
41	CTCF	chr3:101355080-101355230	HCPEpiC	choroid plexus:	n/a	n/a
42	CTCF	chr3:101357100-101357250	GM12864	blood:	n/a	n/a
43	CTCF	chr3:101355180-101355330	HBMEC	blood vessel:	n/a	n/a
44	CTCF	chr3:101355200-101355350	HEK293	kidney:	n/a	n/a
45	CTCF	chr3:101357080-101357262	GM12892	blood:	n/a	n/a
46	CTCF	chr3:101355180-101355330	HL-60	blood:	n/a	n/a
47	CTCF	chr3:101357080-101357230	HCPEpiC	choroid plexus:	n/a	n/a
48	CTCF	chr3:101355153-101355319	A549	lung:	n/a	n/a
49	CTCF	chr3:101357080-101357230	HepG2	liver:	n/a	n/a
50	CTCF	chr3:101355180-101355330	GM12878	blood:	n/a	n/a

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:101361008..101362926-chr3:101370600..101373515,2	K562	blood:
2	chr3:101354862..101356465-chr3:101408456..101410903,2	K562	blood:
3	chr3:101360573..101363913-chr3:101365432..101368273,3	K562	blood:
4	chr3:101354125..101356574-chr3:101403705..101405900,2	K562	blood:
5	chr3:101359985..101362723-chr3:101395223..101396875,2	K562	blood:
6	chr3:101343899..101346704-chr3:101352292..101354517,2	K562	blood:
7	chr3:100948344..100949129-chr3:101356737..101357345,3	MCF-7	breast:
8	chr3:101356897..101358626-chr3:101404065..101405889,2	K562	blood:
9	chr3:101290462..101294650-chr3:101353869..101359325,5	MCF-7	breast:
10	chr3:101292975..101294521-chr3:101350316..101352906,2	MCF-7	breast:
11	chr3:101291801..101292869-chr3:101354955..101356014,3	MCF-7	breast:
12	chr3:101290829..101293797-chr3:101356493..101360609,3	K562	blood:
13	chr3:101279160..101282179-chr3:101355141..101357890,3	MCF-7	breast:
14	chr3:101354125..101359417-chr3:101402279..101407297,7	K562	blood:
15	chr3:101290744..101293723-chr3:101348752..101353109,4	K562	blood:
16	chr3:101303692..101306501-chr3:101349229..101351407,2	K562	blood:
17	chr3:101353618..101355118-chr3:101363975..101366974,2	MCF-7	breast:
18	chr3:101357931..101359900-chr3:101366433..101368278,2	K562	blood:
19	chr3:101291285..101293708-chr3:101352977..101355933,2	MCF-7	breast:
20	chr3:101330944..101333451-chr3:101352917..101354894,2	K562	blood:
21	chr3:101292768..101294361-chr3:101357910..101360353,2	K562	blood:
22	chr3:101357931..101359900-chr3:101366433..101368278,2	K562	blood:
23	chr3:101290744..101294519-chr3:101349897..101353536,8	K562	blood:
24	chr3:101100587..101101297-chr3:101356616..101357604,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000201511	TF binding region
ENSG00000212319	TF binding region
ENSG00000201511	chromatin interactions
ENSG00000256628	chromatin interactions
ENSG00000114391	chromatin interactions
ENSG00000174173	chromatin interactions
ENSG00000081154	chromatin interactions
ENSG00000066422	chromatin interactions

Extended variants
information (count: 615 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:615 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6441620	chr3:101349644-101349645	Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs191650943	chr3:101349660-101349661	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs77541082	chr3:101349678-101349679	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs538522710	chr3:101349697-101349698	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs568406841	chr3:101349699-101349700	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs148003819	chr3:101349721-101349722	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs577940207	chr3:101349730-101349731	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs538770184	chr3:101349797-101349798	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs79947165	chr3:101349822-101349823	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs12494191	chr3:101349839-101349840	Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs572448565	chr3:101349863-101349864	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs12488197	chr3:101349872-101349873	Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs555128999	chr3:101349889-101349890	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs573628167	chr3:101349911-101349912	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs544075742	chr3:101349919-101349920	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs562360994	chr3:101349920-101349921	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs532900918	chr3:101349931-101349932	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs529253126	chr3:101349949-101349950	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs550979007	chr3:101349951-101349952	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs560240871	chr3:101349969-101349970	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs527386106	chr3:101349987-101349988	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs184190024	chr3:101349989-101349990	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs74991547	chr3:101349994-101349995	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs563429798	chr3:101349996-101349997	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs189348697	chr3:101350003-101350004	Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs552510655	chr3:101350004-101350005	Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs554818018	chr3:101350015-101350016	Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs35190388	chr3:101350024-101350025	Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs192388156	chr3:101350066-101350067	Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs571558427	chr3:101350105-101350106	Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs538973328	chr3:101350145-101350146	Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs141697076	chr3:101350146-101350147	Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs566201323	chr3:101350161-101350162	Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs376321015	chr3:101350294-101350295	Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs376408498	chr3:101350506-101350507	Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs572855402	chr3:101350553-101350554	Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs555165888	chr3:101350624-101350625	Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs150561660	chr3:101350640-101350641	Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs547117453	chr3:101350656-101350657	Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs139923732	chr3:101350696-101350697	Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs79992046	chr3:101350719-101350720	Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs577856213	chr3:101350755-101350756	Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs185620950	chr3:101350756-101350757	Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs143433427	chr3:101350775-101350776	Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs13060373	chr3:101350824-101350825	Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs146279329	chr3:101350884-101350885	Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs34489768	chr3:101350917-101350918	Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs529322303	chr3:101350930-101350931	Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs561479722	chr3:101350947-101350948	Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs531898285	chr3:101350971-101350972	Weak transcription Active TSS	TF binding region Chromatin interactive region	2 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:394 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:101348400-101350000	Active TSS	K562	blood
2	chr3:101350000-101350400	Transcr. at gene 5' and 3'	K562	blood
3	chr3:101350400-101352600	Active TSS	K562	blood
4	chr3:101350600-101366800	Weak transcription	Fetal Brain Female	brain
5	chr3:101351200-101351400	Bivalent Enhancer	HepG2	liver
6	chr3:101351200-101353400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:101351400-101352200	Flanking Bivalent TSS/Enh	HepG2	liver
8	chr3:101352200-101352600	Bivalent Enhancer	HepG2	liver
9	chr3:101352600-101354200	Transcr. at gene 5' and 3'	K562	blood
10	chr3:101353200-101355200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr3:101353400-101354000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:101353600-101354200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr3:101353600-101355200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr3:101353600-101355200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr3:101353800-101354200	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr3:101354000-101356400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:101354000-101356800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:101354200-101354600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr3:101354200-101355000	Enhancers	NH-A	brain
20	chr3:101354200-101355400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr3:101354200-101355600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr3:101354200-101356600	Active TSS	K562	blood
23	chr3:101354200-101357000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr3:101354400-101355200	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr3:101354600-101354800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr3:101354600-101354800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr3:101354600-101354800	Enhancers	Fetal Muscle Leg	muscle
28	chr3:101354600-101355200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr3:101354600-101355200	Bivalent/Poised TSS	HepG2	liver
30	chr3:101354800-101355000	Enhancers	H1 Cell Line	embryonic stem cell
31	chr3:101354800-101355000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr3:101354800-101355000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr3:101354800-101355000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr3:101354800-101355000	Flanking Active TSS	Osteobl	bone
35	chr3:101354800-101355200	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr3:101354800-101355200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr3:101354800-101355200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr3:101354800-101355200	Enhancers	Fetal Thymus	thymus
39	chr3:101354800-101355200	Enhancers	Right Atrium	heart
40	chr3:101354800-101355400	Active TSS	NHLF	lung
41	chr3:101354800-101355600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr3:101354800-101355600	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr3:101354800-101355600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr3:101354800-101355600	Enhancers	Primary B cells from peripheral blood	blood
45	chr3:101354800-101355600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr3:101354800-101355600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr3:101354800-101355600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr3:101354800-101355600	Enhancers	GM12878-XiMat	blood
49	chr3:101354800-101356400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr3:101354800-101366800	Weak transcription	Fetal Muscle Leg	muscle

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