Variant report

Variant	nsv894689
Chromosome Location	chr9:141026318-141153431
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1482)
CpG islands
(count:673)
Chromatin interactive
region (count:3)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1482 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr9:141054176-141054450	A549	lung:	n/a	n/a
2	BATF	chr9:141107608-141107779	GM12878	blood:	n/a	n/a
3	BATF	chr9:141115173-141115405	GM12878	blood:	n/a	n/a
4	BATF	chr9:141118278-141118550	GM12878	blood:	n/a	chr9:141118380-141118391
5	BATF	chr9:141113007-141113243	GM12878	blood:	n/a	n/a
6	BATF	chr9:141064102-141064298	GM12878	blood:	n/a	n/a
7	BATF	chr9:141050185-141050584	GM12878	blood:	n/a	n/a
8	BATF	chr9:141114113-141114462	GM12878	blood:	n/a	n/a
9	BATF	chr9:141107515-141107806	GM12878	blood:	n/a	n/a
10	BATF	chr9:141121304-141121639	GM12878	blood:	n/a	n/a
11	BATF	chr9:141121222-141121626	GM12878	blood:	n/a	n/a
12	BATF	chr9:141112985-141113342	GM12878	blood:	n/a	n/a
13	BATF	chr9:141118240-141118564	GM12878	blood:	n/a	chr9:141118380-141118391
14	BATF	chr9:141128400-141128680	GM12878	blood:	n/a	n/a
15	BATF	chr9:141128455-141128723	GM12878	blood:	n/a	n/a
16	BATF	chr9:141082701-141083207	GM12878	blood:	n/a	chr9:141082765-141082773
17	BATF	chr9:141054182-141054368	GM12878	blood:	n/a	n/a
18	BCL11A	chr9:141115303-141115593	GM12878	blood:	n/a	n/a
19	BCL11A	chr9:141054141-141054402	GM12878	blood:	n/a	n/a
20	BCL11A	chr9:141121270-141121610	GM12878	blood:	n/a	n/a
21	BCL11A	chr9:141117472-141117648	GM12878	blood:	n/a	n/a
22	BCL11A	chr9:141129767-141129926	GM12878	blood:	n/a	n/a
23	BCL11A	chr9:141067698-141067987	GM12878	blood:	n/a	n/a
24	BCL11A	chr9:141054194-141054361	GM12878	blood:	n/a	n/a
25	BCL11A	chr9:141128443-141128816	GM12878	blood:	n/a	n/a
26	BCL11A	chr9:141122785-141122963	GM12878	blood:	n/a	n/a
27	BCL11A	chr9:141115227-141115417	GM12878	blood:	n/a	n/a
28	BCL11A	chr9:141126990-141127300	GM12878	blood:	n/a	n/a
29	BCL11A	chr9:141118215-141118496	GM12878	blood:	n/a	n/a
30	BCL11A	chr9:141121234-141121658	GM12878	blood:	n/a	n/a
31	BCL11A	chr9:141114056-141114418	GM12878	blood:	n/a	n/a
32	BCL11A	chr9:141114024-141114388	GM12878	blood:	n/a	n/a
33	BCL11A	chr9:141128328-141128725	GM12878	blood:	n/a	n/a
34	BHLHE40	chr9:141061417-141061666	HepG2	liver:	n/a	n/a
35	BHLHE40	chr9:141044398-141044667	HepG2	liver:	n/a	n/a
36	BHLHE40	chr9:141118206-141118545	HepG2	liver:	n/a	n/a
37	BHLHE40	chr9:141121159-141121509	HepG2	liver:	n/a	n/a
38	CBX3	chr9:141044327-141044724	K562	blood:	n/a	n/a
39	CBX3	chr9:141111198-141111891	K562	blood:	n/a	n/a
40	CBX3	chr9:141128381-141128955	K562	blood:	n/a	n/a
41	CBX3	chr9:141041994-141042355	K562	blood:	n/a	n/a
42	CBX3	chr9:141111324-141111635	K562	blood:	n/a	n/a
43	CEBPB	chr9:141066417-141066641	MCF-7	breast:	n/a	n/a
44	CEBPD	chr9:141122140-141123758	K562	blood:	n/a	n/a
45	CEBPD	chr9:141088557-141088959	K562	blood:	n/a	n/a
46	CEBPD	chr9:141027620-141027978	K562	blood:	n/a	n/a
47	CTCF	chr9:141111343-141111588	Pancreas_OC	pancreas:	n/a	n/a
48	CTCF	chr9:141042074-141042275	ProgFib	skin:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
49	CTCF	chr9:141044840-141044990	GM12867	blood:	n/a	n/a
50	CTCF	chr9:141073551-141073681	A549	lung:	n/a	chr9:141073602-141073615

(count:673 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:141109427-141109477	CMK	blood:	n/a
2	chr9:141105974-141106024	HEK293	kidney:	embryo
3	chr9:141109427-141109477	CMK	blood:	n/a
4	chr9:141105974-141106024	HEK293	kidney:	embryo
5	chr9:141044509-141044559	BE2_C	brain:	n/a
6	chr9:141105202-141105252	MCF-7	breast:	n/a
7	chr9:141045017-141045067	BE2_C	brain:	n/a
8	chr9:141109427-141109477	SKMC	muscle:	n/a
9	chr9:141044509-141044559	PFSK-1	brain:	n/a
10	chr9:141111141-141111191	NB4	blood:	n/a
11	chr9:141042453-141042503	HAEpiC	amniotic membrane:	n/a
12	chr9:141105202-141105252	Caco-2	colon:	n/a
13	chr9:141042435-141042485	Jurkat	blood:	n/a
14	chr9:141105974-141106024	SAEC	small airway:	n/a
15	chr9:141111141-141111191	HAEpiC	amniotic membrane:	n/a
16	chr9:141042453-141042503	SK-N-SH	brain:	n/a
17	chr9:141042453-141042503	RPTEC	kidney:	n/a
18	chr9:141044509-141044559	GM06990	blood:	n/a
19	chr9:141044509-141044559	BJ	skin:	n/a
20	chr9:141067944-141067994	HL-60	blood:	n/a
21	chr9:141105202-141105252	HEK293	kidney:	embryo
22	chr9:141067944-141067994	IMR90	lung:	fetal
23	chr9:141042453-141042503	Caco-2	colon:	n/a
24	chr9:141105202-141105252	HCF	heart:	n/a
25	chr9:141045017-141045067	NT2-D1	testis:	n/a
26	chr9:141111141-141111191	LNCaP	prostate:	n/a
27	chr9:141044509-141044559	AG09309	skin:	n/a
28	chr9:141067944-141067994	MCF10A-Er-Src	breast:	n/a
29	chr9:141044509-141044559	ECC-1	luminal epithelium:	n/a
30	chr9:141067944-141067994	AoSMC	blood vessel:	n/a
31	chr9:141044509-141044559	HCM	heart:	n/a
32	chr9:141111141-141111191	K562	blood:	n/a
33	chr9:141111141-141111191	SK-N-MC	brain:	n/a
34	chr9:141105202-141105252	A549	lung:	n/a
35	chr9:141069847-141069897	SK-N-MC	brain:	n/a
36	chr9:141111141-141111191	Hela-S3	cervix:	n/a
37	chr9:141067944-141067994	ECC-1	luminal epithelium:	n/a
38	chr9:141044509-141044559	HRPEpiC	eye:	n/a
39	chr9:141069847-141069897	HEK293	kidney:	embryo
40	chr9:141042453-141042503	NB4	blood:	n/a
41	chr9:141045017-141045067	SK-N-SH	brain:	n/a
42	chr9:141069847-141069897	GM12892	blood:	n/a
43	chr9:141067944-141067994	HEEpiC	esophagus:	n/a
44	chr9:141105202-141105252	AG04450	lung:	fetal
45	chr9:141044509-141044559	HUVEC	blood vessel:	n/a
46	chr9:141067944-141067994	SK-N-SH	brain:	n/a
47	chr9:141111141-141111191	HepG2	liver:	n/a
48	chr9:141109427-141109477	AG04449	skin:	fetal
49	chr9:141069847-141069897	AG10803	skin:	n/a
50	chr9:141105974-141106024	ProgFib	skin:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:811815..813428-chr9:141073371..141075327,2	K562	blood:
2	chr10:122225..122779-chr9:141041705..141042205,2	MCF-7	breast:
3	chr10:122219..122922-chr9:141042181..141042681,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CACNA1B-1	chr9:141139721-141139830	XLOC_007621
2	lnc-CACNA1B-1	chr9:141141988-141142607	XLOC_007621

No data

Variant related genes	Relation type
RNU6-785P	TF binding region
TUBBP5	TF binding region
ENSG00000237419	TF binding region
ENSG00000229926	TF binding region
FAM157B	TF binding region
RNU6-785P	CpG island
TUBBP5	CpG island
ENSG00000237419	CpG island
ENSG00000229926	CpG island
FAM157B	CpG island
ENSG00000230368	chromatin interactions

Extended variants
information (count: 2378 )
Associated
traits (count: 19 )

Variant overlapped rSNPs/rCNVs (count:2378 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17583562	chr9:141026318-141026319	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs371305783	chr9:141026355-141026356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564351875	chr9:141026356-141026357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs578024324	chr9:141026367-141026368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543754625	chr9:141026385-141026386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563108531	chr9:141026456-141026457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs9410076	chr9:141026461-141026462	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs367872607	chr9:141026466-141026467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200743121	chr9:141026470-141026471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs116843317	chr9:141026481-141026482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs180773003	chr9:141026482-141026483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369640902	chr9:141026498-141026499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528656798	chr9:141026499-141026500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551584696	chr9:141026500-141026501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201445961	chr9:141026509-141026510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372517701	chr9:141026535-141026536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186343235	chr9:141026542-141026543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs199578314	chr9:141026567-141026568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567773839	chr9:141026710-141026711	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs547084740	chr9:141026764-141026765	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs2606379	chr9:141026769-141026770	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs191877152	chr9:141026796-141026797	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs11137378	chr9:141026797-141026798	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs71495310	chr9:141026813-141026814	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs372282637	chr9:141026814-141026815	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs398012621	chr9:141026830-141026831	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs2606378	chr9:141026849-141026850	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs568547389	chr9:141026879-141026880	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs567513692	chr9:141026897-141026898	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs536691632	chr9:141026898-141026899	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs148975602	chr9:141026912-141026913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566999445	chr9:141026929-141026930	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs534795262	chr9:141026952-141026953	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs557949282	chr9:141027026-141027027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9314648	chr9:141027064-141027065	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs543694786	chr9:141027111-141027112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183699979	chr9:141027213-141027214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141278007	chr9:141027222-141027223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573544025	chr9:141027234-141027235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542652100	chr9:141027237-141027238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559159805	chr9:141027253-141027254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528203526	chr9:141027265-141027266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188218966	chr9:141027275-141027276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565091070	chr9:141027289-141027290	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs531021179	chr9:141027301-141027302	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs550983562	chr9:141027306-141027307	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs569123597	chr9:141027328-141027329	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs144993735	chr9:141027352-141027353	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs530022086	chr9:141027358-141027359	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs9410165	chr9:141027379-141027380	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:19)

Disease	PMID	Source
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Cardiac fibroma	18329553	CNVD
Lung cancer	19147751	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Chordoma	18071362	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Sudden cardiac death	19188705	CNVD
Myoepithelioma	18604193	CNVD
Tuberous sclerosis	19566914	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Mantle cell lymphoma	19029149	CNVD

Chromatin state (count:275 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:140988200-141044600	Weak transcription	Right Atrium	heart
2	chr9:141037200-141037600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr9:141041800-141042400	Enhancers	K562	blood
4	chr9:141042200-141042400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr9:141042200-141042400	Enhancers	Primary B cells from peripheral blood	blood
6	chr9:141042200-141042400	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
7	chr9:141042200-141042400	Active TSS	Placenta	Placenta
8	chr9:141042200-141042600	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr9:141042200-141042600	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr9:141042200-141042600	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr9:141042200-141042600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr9:141042200-141042600	Bivalent/Poised TSS	Fetal Stomach	stomach
13	chr9:141042200-141042600	Enhancers	Ovary	ovary
14	chr9:141042200-141042600	Active TSS	HepG2	liver
15	chr9:141042400-141042600	Enhancers	Adipose Nuclei	Adipose
16	chr9:141042400-141042600	Flanking Active TSS	Placenta	Placenta
17	chr9:141042400-141044200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr9:141042400-141044600	Weak transcription	K562	blood
19	chr9:141042600-141042800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
20	chr9:141042600-141042800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
21	chr9:141042600-141044200	Weak transcription	Placenta	Placenta
22	chr9:141042600-141044400	Weak transcription	HepG2	liver
23	chr9:141042600-141044600	Weak transcription	Adipose Nuclei	Adipose
24	chr9:141042600-141044600	Weak transcription	Ovary	ovary
25	chr9:141043800-141044400	Enhancers	Primary T cells from cord blood	blood
26	chr9:141044000-141044400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
27	chr9:141044200-141044400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr9:141044200-141044400	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr9:141044200-141044400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr9:141044200-141044600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr9:141044200-141044600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr9:141044200-141044600	Bivalent Enhancer	Fetal Muscle Leg	muscle
33	chr9:141044200-141044600	Enhancers	Placenta	Placenta
34	chr9:141044200-141045200	Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr9:141044200-141045200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
36	chr9:141044400-141044600	Active TSS	Primary B cells from cord blood	blood
37	chr9:141044400-141044600	Enhancers	Primary B cells from peripheral blood	blood
38	chr9:141044400-141044600	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
39	chr9:141044400-141044600	Active TSS	Fetal Intestine Large	intestine
40	chr9:141044400-141044600	Enhancers	Pancreas	Pancrea
41	chr9:141044400-141044800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr9:141044400-141044800	Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr9:141044400-141044800	Active TSS	Primary T cells from cord blood	blood
44	chr9:141044400-141044800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr9:141044400-141044800	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
46	chr9:141044400-141045000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr9:141044400-141045000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr9:141044400-141045000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
49	chr9:141044400-141045000	Bivalent/Poised TSS	Fetal Brain Female	brain
50	chr9:141044400-141045000	Active TSS	Right Ventricle	heart

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