Variant report

Variant	nsv894688
Chromosome Location	chr9:141017352-141153431
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1683)
CpG islands
(count:793)
Chromatin interactive
region (count:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1683 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

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	ATF3	chr9:141020692-141020855	GM12878	blood:	n/a	n/a
3	ATF3	chr9:141020637-141020864	K562	blood:	n/a	n/a
4	ATF3	chr9:141020689-141020889	GM12878	blood:	n/a	n/a
5	BATF	chr9:141128455-141128723	GM12878	blood:	n/a	n/a
6	BATF	chr9:141121222-141121626	GM12878	blood:	n/a	n/a
7	BATF	chr9:141064102-141064298	GM12878	blood:	n/a	n/a
8	BATF	chr9:141118278-141118550	GM12878	blood:	n/a	chr9:141118380-141118391
9	BATF	chr9:141128400-141128680	GM12878	blood:	n/a	n/a
10	BATF	chr9:141118240-141118564	GM12878	blood:	n/a	chr9:141118380-141118391
11	BATF	chr9:141082701-141083207	GM12878	blood:	n/a	chr9:141082765-141082773
12	BATF	chr9:141023409-141023594	GM12878	blood:	n/a	n/a
13	BATF	chr9:141121304-141121639	GM12878	blood:	n/a	n/a
14	BATF	chr9:141050185-141050584	GM12878	blood:	n/a	n/a
15	BATF	chr9:141115173-141115405	GM12878	blood:	n/a	n/a
16	BATF	chr9:141107608-141107779	GM12878	blood:	n/a	n/a
17	BATF	chr9:141113007-141113243	GM12878	blood:	n/a	n/a
18	BATF	chr9:141114113-141114462	GM12878	blood:	n/a	n/a
19	BATF	chr9:141020609-141020912	GM12878	blood:	n/a	n/a
20	BATF	chr9:141054182-141054368	GM12878	blood:	n/a	n/a
21	BATF	chr9:141107515-141107806	GM12878	blood:	n/a	n/a
22	BATF	chr9:141112985-141113342	GM12878	blood:	n/a	n/a
23	BCL11A	chr9:141054194-141054361	GM12878	blood:	n/a	n/a
24	BCL11A	chr9:141023414-141023612	GM12878	blood:	n/a	n/a
25	BCL11A	chr9:141121234-141121658	GM12878	blood:	n/a	n/a
26	BCL11A	chr9:141122785-141122963	GM12878	blood:	n/a	n/a
27	BCL11A	chr9:141114056-141114418	GM12878	blood:	n/a	n/a
28	BCL11A	chr9:141128443-141128816	GM12878	blood:	n/a	n/a
29	BCL11A	chr9:141126990-141127300	GM12878	blood:	n/a	n/a
30	BCL11A	chr9:141067698-141067987	GM12878	blood:	n/a	n/a
31	BCL11A	chr9:141129767-141129926	GM12878	blood:	n/a	n/a
32	BCL11A	chr9:141115303-141115593	GM12878	blood:	n/a	n/a
33	BCL11A	chr9:141114024-141114388	GM12878	blood:	n/a	n/a
34	BCL11A	chr9:141128328-141128725	GM12878	blood:	n/a	n/a
35	BCL11A	chr9:141118215-141118496	GM12878	blood:	n/a	n/a
36	BCL11A	chr9:141115227-141115417	GM12878	blood:	n/a	n/a
37	BCL11A	chr9:141121270-141121610	GM12878	blood:	n/a	n/a
38	BCL11A	chr9:141117472-141117648	GM12878	blood:	n/a	n/a
39	BCL11A	chr9:141054141-141054402	GM12878	blood:	n/a	n/a
40	BHLHE40	chr9:141118206-141118545	HepG2	liver:	n/a	n/a
41	BHLHE40	chr9:141061417-141061666	HepG2	liver:	n/a	n/a
42	BHLHE40	chr9:141121159-141121509	HepG2	liver:	n/a	n/a
43	BHLHE40	chr9:141044398-141044667	HepG2	liver:	n/a	n/a
44	CBX3	chr9:141020423-141021627	K562	blood:	n/a	n/a
45	CBX3	chr9:141111198-141111891	K562	blood:	n/a	n/a
46	CBX3	chr9:141020180-141021846	K562	blood:	n/a	n/a
47	CBX3	chr9:141023334-141023686	K562	blood:	n/a	n/a
48	CBX3	chr9:141023337-141023724	K562	blood:	n/a	n/a
49	CBX3	chr9:141111324-141111635	K562	blood:	n/a	n/a
50	CBX3	chr9:141128381-141128955	K562	blood:	n/a	n/a

(count:793 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:141105974-141106024	HCM	heart:	n/a
2	chr9:141044509-141044559	HepG2	liver:	n/a
3	chr9:141045017-141045067	GM06990	blood:	n/a
4	chr9:141017457-141017507	NB4	blood:	n/a
5	chr9:141111141-141111191	HL-60	blood:	n/a
6	chr9:141022253-141022303	HCPEpiC	choroid plexus:	n/a
7	chr9:141111141-141111191	MCF-7	breast:	n/a
8	chr9:141109427-141109477	PANC-1	pancreas:	n/a
9	chr9:141042435-141042485	SK-N-MC	brain:	n/a
10	chr9:141105974-141106024	PFSK-1	brain:	n/a
11	chr9:141109427-141109477	NB4	blood:	n/a
12	chr9:141017457-141017507	HL-60	blood:	n/a
13	chr9:141044509-141044559	HMEC	breast:	n/a
14	chr9:141045017-141045067	HCPEpiC	choroid plexus:	n/a
15	chr9:141111396-141111446	NHDF-neo	bronchial:	n/a
16	chr9:141067944-141067994	GM12891	blood:	n/a
17	chr9:141022253-141022303	HNPCEpiC	eye:	n/a
18	chr9:141067944-141067994	ovcar-3	ovarian:	n/a
19	chr9:141045017-141045067	GM12891	blood:	n/a
20	chr9:141042435-141042485	GM12891	blood:	n/a
21	chr9:141017457-141017507	GM12878	blood:	n/a
22	chr9:141067944-141067994	NHBE	bronchial:	n/a
23	chr9:141022253-141022303	HRCEpiC	kidney:	n/a
24	chr9:141111396-141111446	NT2-D1	testis:	n/a
25	chr9:141017457-141017507	HRE	kidney:	n/a
26	chr9:141111396-141111446	Jurkat	blood:	n/a
27	chr9:141109427-141109477	Hela-S3	cervix:	n/a
28	chr9:141069847-141069897	Hepatocyte	liver:	n/a
29	chr9:141022253-141022303	PrEC	prostate:	n/a
30	chr9:141067944-141067994	AG09319	gingival:	n/a
31	chr9:141111141-141111191	GM12892	blood:	n/a
32	chr9:141042435-141042485	HPAEpiC	pulmonary alveolar:	n/a
33	chr9:141022253-141022303	GM12892	blood:	n/a
34	chr9:141069847-141069897	HCPEpiC	choroid plexus:	n/a
35	chr9:141042453-141042503	GM12891	blood:	n/a
36	chr9:141111141-141111191	AG04449	skin:	fetal
37	chr9:141109427-141109477	H1-hESC	embryonic stem cell:	embryo
38	chr9:141109427-141109477	SKMC	muscle:	n/a
39	chr9:141067944-141067994	SK-N-SH_RA	brain:	n/a
40	chr9:141022253-141022303	HCT-116	colon:	n/a
41	chr9:141042453-141042503	A549	lung:	n/a
42	chr9:141045017-141045067	ProgFib	skin:	n/a
43	chr9:141105974-141106024	HMEC	breast:	n/a
44	chr9:141109427-141109477	GM06990	blood:	n/a
45	chr9:141042453-141042503	AG04450	lung:	fetal
46	chr9:141105202-141105252	U87	brain:	n/a
47	chr9:141042435-141042485	PrEC	prostate:	n/a
48	chr9:141069847-141069897	ECC-1	luminal epithelium:	n/a
49	chr9:141042453-141042503	U87	brain:	n/a
50	chr9:141109427-141109477	A549	lung:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:122225..122779-chr9:141041705..141042205,2	MCF-7	breast:
2	chr9:141011439..141013713-chr9:141015634..141018380,2	K562	blood:
3	chr1:811815..813428-chr9:141073371..141075327,2	K562	blood:
4	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	chr9:141141988-141142607	XLOC_007621
2	lnc-CACNA1B-1	chr9:141139721-141139830	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: 2894 )
Associated
traits (count: 19 )

Variant overlapped rSNPs/rCNVs (count:2894 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3750510	chr9:141017352-141017353	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs199518254	chr9:141017358-141017359	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200982674	chr9:141017363-141017364	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576661888	chr9:141017366-141017367	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201803981	chr9:141017368-141017369	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs199650586	chr9:141017369-141017370	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200502141	chr9:141017391-141017392	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201318323	chr9:141017404-141017405	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200095608	chr9:141017406-141017407	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115334909	chr9:141017476-141017477	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201937840	chr9:141017478-141017479	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs199864071	chr9:141017481-141017482	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201360226	chr9:141017500-141017501	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs116066034	chr9:141017501-141017502	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs180773572	chr9:141017513-141017514	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs202108780	chr9:141017538-141017539	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564477827	chr9:141017553-141017554	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533188684	chr9:141017560-141017561	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9410163	chr9:141017562-141017563	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs200954646	chr9:141017571-141017572	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201939831	chr9:141017583-141017584	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187628621	chr9:141017588-141017589	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs202113515	chr9:141017590-141017591	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375346738	chr9:141017614-141017615	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200433950	chr9:141017635-141017636	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201439668	chr9:141017638-141017639	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs202194953	chr9:141017639-141017640	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200309410	chr9:141017649-141017650	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201765320	chr9:141017653-141017654	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs199727990	chr9:141017654-141017655	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200582916	chr9:141017655-141017656	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563446913	chr9:141017665-141017666	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201111627	chr9:141017676-141017677	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs9414688	chr9:141017691-141017692	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs200708576	chr9:141017708-141017709	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568251090	chr9:141017709-141017710	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201808852	chr9:141017724-141017725	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200044514	chr9:141017731-141017732	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200654073	chr9:141017735-141017736	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201815463	chr9:141017739-141017740	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs62579506	chr9:141017759-141017760	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200097223	chr9:141017760-141017761	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201102227	chr9:141017767-141017768	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111396448	chr9:141017769-141017770	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190906039	chr9:141017783-141017784	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201380624	chr9:141017800-141017801	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs149699867	chr9:141017806-141017807	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200454500	chr9:141017818-141017819	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201379286	chr9:141017819-141017820	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs202132242	chr9:141017822-141017823	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	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:299 , 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	chr9:141009200-141017600	Strong transcription	Fetal Brain Female	brain
3	chr9:141012000-141017600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr9:141012600-141022200	Weak transcription	Brain Angular Gyrus	brain
5	chr9:141013000-141018000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr9:141013400-141017600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr9:141015600-141017400	Strong transcription	Brain Inferior Temporal Lobe	brain
8	chr9:141016200-141017400	Strong transcription	Brain Anterior Caudate	brain
9	chr9:141016200-141017800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
10	chr9:141016600-141017600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
11	chr9:141016800-141017800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr9:141016800-141018400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr9:141016800-141019000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr9:141017400-141019000	Weak transcription	Brain Anterior Caudate	brain
15	chr9:141017400-141019000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr9:141017600-141019200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr9:141017600-141019400	Weak transcription	Fetal Brain Female	brain
18	chr9:141019000-141020800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
19	chr9:141020600-141020800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr9:141022600-141023400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr9:141022600-141023400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr9:141023400-141023800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
23	chr9:141023400-141023800	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr9:141023400-141024000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr9:141023400-141024000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
26	chr9:141037200-141037600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
27	chr9:141041800-141042400	Enhancers	K562	blood
28	chr9:141042200-141042400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr9:141042200-141042400	Enhancers	Primary B cells from peripheral blood	blood
30	chr9:141042200-141042400	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
31	chr9:141042200-141042400	Active TSS	Placenta	Placenta
32	chr9:141042200-141042600	Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr9:141042200-141042600	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr9:141042200-141042600	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr9:141042200-141042600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr9:141042200-141042600	Bivalent/Poised TSS	Fetal Stomach	stomach
37	chr9:141042200-141042600	Enhancers	Ovary	ovary
38	chr9:141042200-141042600	Active TSS	HepG2	liver
39	chr9:141042400-141042600	Enhancers	Adipose Nuclei	Adipose
40	chr9:141042400-141042600	Flanking Active TSS	Placenta	Placenta
41	chr9:141042400-141044200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr9:141042400-141044600	Weak transcription	K562	blood
43	chr9:141042600-141042800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
44	chr9:141042600-141042800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
45	chr9:141042600-141044200	Weak transcription	Placenta	Placenta
46	chr9:141042600-141044400	Weak transcription	HepG2	liver
47	chr9:141042600-141044600	Weak transcription	Adipose Nuclei	Adipose
48	chr9:141042600-141044600	Weak transcription	Ovary	ovary
49	chr9:141043800-141044400	Enhancers	Primary T cells from cord blood	blood
50	chr9:141044000-141044400	Bivalent Enhancer	Primary B cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links