Variant report

Variant	nsv1044994
Chromosome Location	chr9:141011174-141091382
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	ATF3	chr9:141020689-141020889	GM12878	blood:	n/a	n/a
2	ATF3	chr9:141054176-141054450	A549	lung:	n/a	n/a
3	ATF3	chr9:141020637-141020864	K562	blood:	n/a	n/a
4	ATF3	chr9:141020692-141020855	GM12878	blood:	n/a	n/a
5	BATF	chr9:141023409-141023594	GM12878	blood:	n/a	n/a
6	BATF	chr9:141054182-141054368	GM12878	blood:	n/a	n/a
7	BATF	chr9:141082701-141083207	GM12878	blood:	n/a	chr9:141082765-141082773
8	BATF	chr9:141050185-141050584	GM12878	blood:	n/a	n/a
9	BATF	chr9:141064102-141064298	GM12878	blood:	n/a	n/a
10	BATF	chr9:141020609-141020912	GM12878	blood:	n/a	n/a
11	BCL11A	chr9:141023414-141023612	GM12878	blood:	n/a	n/a
12	BCL11A	chr9:141054141-141054402	GM12878	blood:	n/a	n/a
13	BCL11A	chr9:141054194-141054361	GM12878	blood:	n/a	n/a
14	BCL11A	chr9:141067698-141067987	GM12878	blood:	n/a	n/a
15	BHLHE40	chr9:141061417-141061666	HepG2	liver:	n/a	n/a
16	BHLHE40	chr9:141044398-141044667	HepG2	liver:	n/a	n/a
17	CBX3	chr9:141041994-141042355	K562	blood:	n/a	n/a
18	CBX3	chr9:141023334-141023686	K562	blood:	n/a	n/a
19	CBX3	chr9:141020423-141021627	K562	blood:	n/a	n/a
20	CBX3	chr9:141023337-141023724	K562	blood:	n/a	n/a
21	CBX3	chr9:141044327-141044724	K562	blood:	n/a	n/a
22	CBX3	chr9:141020180-141021846	K562	blood:	n/a	n/a
23	CEBPB	chr9:141021040-141021243	GM12878	blood:	n/a	n/a
24	CEBPB	chr9:141020616-141021529	K562	blood:	n/a	n/a
25	CEBPB	chr9:141020799-141021006	GM12878	blood:	n/a	n/a
26	CEBPB	chr9:141020544-141021559	GM12878	blood:	n/a	n/a
27	CEBPB	chr9:141066417-141066641	MCF-7	breast:	n/a	n/a
28	CEBPD	chr9:141088557-141088959	K562	blood:	n/a	n/a
29	CEBPD	chr9:141027620-141027978	K562	blood:	n/a	n/a
30	CTCF	chr9:141044396-141044697	GM10266	blood:	n/a	chr9:141044508-141044521 chr9:141044506-141044522 chr9:141044505-141044523
31	CTCF	chr9:141020400-141020550	GM12867	blood:	n/a	n/a
32	CTCF	chr9:141044442-141044444	GM12891	blood:	n/a	n/a
33	CTCF	chr9:141073620-141073770	K562	blood:	n/a	n/a
34	CTCF	chr9:141023530-141023544	K562	blood:	n/a	n/a
35	CTCF	chr9:141086980-141087130	GM12869	blood:	n/a	n/a
36	CTCF	chr9:141073600-141073750	WERI-Rb-1	eye:	n/a	chr9:141073602-141073615
37	CTCF	chr9:141042081-141042305	A549	lung:	n/a	chr9:141042273-141042286 chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
38	CTCF	chr9:141073620-141073870	A549	lung:	n/a	n/a
39	CTCF	chr9:141041938-141042383	T-47D	breast:	n/a	chr9:141042273-141042286 chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
40	CTCF	chr9:141044384-141044668	Spleen_OC	spleen:	n/a	chr9:141044508-141044521 chr9:141044506-141044522 chr9:141044505-141044523
41	CTCF	chr9:141042085-141042265	Spleen_OC	spleen:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
42	CTCF	chr9:141042080-141042230	HRPEpiC	eye:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
43	CTCF	chr9:141021741-141021997	GM19239	blood:	n/a	n/a
44	CTCF	chr9:141044455-141044571	H1-hESC	embryonic stem cell:	n/a	chr9:141044508-141044521 chr9:141044506-141044522 chr9:141044505-141044523
45	CTCF	chr9:141042160-141042310	GM12868	blood:	n/a	chr9:141042273-141042286
46	CTCF	chr9:141044480-141044630	HepG2	liver:	n/a	chr9:141044508-141044521 chr9:141044506-141044522 chr9:141044505-141044523
47	CTCF	chr9:141041888-141042528	K562	blood:	n/a	chr9:141042273-141042286 chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
48	CTCF	chr9:141041920-141042070	HepG2	liver:	n/a	n/a
49	CTCF	chr9:141073520-141073670	AG04450	lung:	n/a	chr9:141073602-141073615
50	CTCF	chr9:141020700-141020850	GM12870	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:141016791-141016841	T-47D	breast:	n/a
2	chr9:141016791-141016841	T-47D	breast:	n/a
3	chr9:141012312-141012362	HRPEpiC	eye:	n/a
4	chr9:141012312-141012362	MCF10A-Er-Src	breast:	n/a
5	chr9:141017457-141017507	AG04450	lung:	fetal
6	chr9:141016367-141016417	MCF10A-Er-Src	breast:	n/a
7	chr9:141044509-141044559	NHBE	bronchial:	n/a
8	chr9:141069847-141069897	GM12892	blood:	n/a
9	chr9:141067944-141067994	AG04450	lung:	fetal
10	chr9:141016791-141016841	HCT-116	colon:	n/a
11	chr9:141016367-141016417	PANC-1	pancreas:	n/a
12	chr9:141042453-141042503	GM12878	blood:	n/a
13	chr9:141016791-141016841	HepG2	liver:	n/a
14	chr9:141016367-141016417	HPAEpiC	pulmonary alveolar:	n/a
15	chr9:141012312-141012362	AG10803	skin:	n/a
16	chr9:141067944-141067994	HUVEC	blood vessel:	n/a
17	chr9:141017001-141017051	NT2-D1	testis:	n/a
18	chr9:141022253-141022303	MCF10A-Er-Src	breast:	n/a
19	chr9:141022253-141022303	HL-60	blood:	n/a
20	chr9:141016791-141016841	NHDF-neo	bronchial:	n/a
21	chr9:141042435-141042485	PANC-1	pancreas:	n/a
22	chr9:141042435-141042485	ECC-1	luminal epithelium:	n/a
23	chr9:141045017-141045067	GM12878	blood:	n/a
24	chr9:141012312-141012362	PFSK-1	brain:	n/a
25	chr9:141067944-141067994	GM06990	blood:	n/a
26	chr9:141016367-141016417	HRE	kidney:	n/a
27	chr9:141014674-141014724	NHBE	bronchial:	n/a
28	chr9:141016367-141016417	GM12878	blood:	n/a
29	chr9:141016791-141016841	PrEC	prostate:	n/a
30	chr9:141014674-141014724	HepG2	liver:	n/a
31	chr9:141069847-141069897	AoSMC	blood vessel:	n/a
32	chr9:141016791-141016841	HAEpiC	amniotic membrane:	n/a
33	chr9:141016791-141016841	NT2-D1	testis:	n/a
34	chr9:141013112-141013162	PrEC	prostate:	n/a
35	chr9:141067944-141067994	GM12891	blood:	n/a
36	chr9:141044509-141044559	PFSK-1	brain:	n/a
37	chr9:141067944-141067994	NB4	blood:	n/a
38	chr9:141013112-141013162	HIPEpiC	eye:	n/a
39	chr9:141069847-141069897	Jurkat	blood:	n/a
40	chr9:141022253-141022303	HUVEC	blood vessel:	n/a
41	chr9:141042435-141042485	GM12891	blood:	n/a
42	chr9:141045017-141045067	HRCEpiC	kidney:	n/a
43	chr9:141045017-141045067	HCF	heart:	n/a
44	chr9:141012312-141012362	HCT-116	colon:	n/a
45	chr9:141042453-141042503	K562	blood:	n/a
46	chr9:141042453-141042503	SK-N-SH_RA	brain:	n/a
47	chr9:141042453-141042503	HNPCEpiC	eye:	n/a
48	chr9:141016367-141016417	AG04449	skin:	fetal
49	chr9:141013112-141013162	NB4	blood:	n/a
50	chr9:141013537-141013587	HEEpiC	esophagus:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:811815..813428-chr9:141073371..141075327,2	K562	blood:
2	chr10:122219..122922-chr9:141042181..141042681,2	MCF-7	breast:
3	chr10:122225..122779-chr9:141041705..141042205,2	MCF-7	breast:
4	chr9:141011439..141013713-chr9:141015634..141018380,2	K562	blood:
5	chr9:137024514..137025058-chr9:141013083..141013583,2	HCT-116	colon:
6	chr9:141011439..141013713-chr9:141015634..141018380,2	K562	blood:
7	chr9:141007252..141009770-chr9:141014340..141016354,2	MCF-7	breast:

Variant related genes	Relation type
TUBBP5	TF binding region
ENSG00000229926	TF binding region
TUBBP5	CpG island
ENSG00000229926	CpG island
ENSG00000230368	chromatin interactions

Extended variants
information (count: 2979 )
Associated
traits (count: 19 )

Variant overlapped rSNPs/rCNVs (count:2979 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372854141	chr9:141011174-141011175	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs141659225	chr9:141011221-141011222	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547312698	chr9:141011249-141011250	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531076678	chr9:141011260-141011261	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs72770912	chr9:141011285-141011286	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs536189984	chr9:141011290-141011291	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533153646	chr9:141011291-141011292	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529102388	chr9:141011299-141011300	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549264791	chr9:141011302-141011303	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565990199	chr9:141011345-141011346	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150088128	chr9:141011375-141011376	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs55981659	chr9:141011416-141011417	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555317603	chr9:141011425-141011426	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138525538	chr9:141011428-141011429	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537177042	chr9:141011429-141011430	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556800576	chr9:141011445-141011446	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs199889118	chr9:141011448-141011449	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113124922	chr9:141011469-141011470	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575267579	chr9:141011498-141011499	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2606356	chr9:141011524-141011525	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
21	rs111258526	chr9:141011568-141011569	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544994210	chr9:141011573-141011574	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112370198	chr9:141011575-141011576	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs386739710	chr9:141011579-141011580	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2606357	chr9:141011581-141011582	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs561519900	chr9:141011629-141011630	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184112190	chr9:141011643-141011644	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557851438	chr9:141011672-141011673	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577719575	chr9:141011680-141011681	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373031633	chr9:141011688-141011689	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551373453	chr9:141011692-141011693	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188408151	chr9:141011724-141011725	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530781925	chr9:141011739-141011740	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200158019	chr9:141011740-141011741	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs76791110	chr9:141011741-141011742	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112953710	chr9:141011744-141011745	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73577510	chr9:141011755-141011756	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs550609731	chr9:141011768-141011769	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2606358	chr9:141011771-141011772	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs536444121	chr9:141011782-141011783	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73577513	chr9:141011793-141011794	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573186152	chr9:141011825-141011826	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2739259	chr9:141011831-141011832	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554516166	chr9:141011835-141011836	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559009883	chr9:141011846-141011847	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575560624	chr9:141011847-141011848	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544293407	chr9:141011855-141011856	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555003285	chr9:141011856-141011857	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574884282	chr9:141011874-141011875	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542835469	chr9:141011892-141011893	Weak transcription Strong 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:269 , 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	chr9:140994200-141013000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr9:141000400-141016600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr9:141008800-141015600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr9:141009200-141017600	Strong transcription	Fetal Brain Female	brain
6	chr9:141009600-141012400	Strong transcription	Brain Cingulate Gyrus	brain
7	chr9:141009800-141011200	Strong transcription	Brain Germinal Matrix	brain
8	chr9:141009800-141012000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr9:141009800-141016200	Weak transcription	Brain Anterior Caudate	brain
10	chr9:141010600-141013400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr9:141011000-141012600	Strong transcription	Brain Angular Gyrus	brain
12	chr9:141011200-141012000	Weak transcription	Brain Germinal Matrix	brain
13	chr9:141012000-141012800	Strong transcription	Brain Germinal Matrix	brain
14	chr9:141012000-141017600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr9:141012400-141015400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr9:141012600-141022200	Weak transcription	Brain Angular Gyrus	brain
17	chr9:141012800-141013200	Weak transcription	Brain Germinal Matrix	brain
18	chr9:141013000-141013200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr9:141013000-141018000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
20	chr9:141013200-141014000	ZNF genes & repeats	Brain Germinal Matrix	brain
21	chr9:141013200-141015800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr9:141013200-141016200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr9:141013400-141013600	Enhancers	Spleen	Spleen
24	chr9:141013400-141017600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr9:141013600-141014000	Weak transcription	Spleen	Spleen
26	chr9:141013800-141016200	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr9:141014000-141014200	Active TSS	Spleen	Spleen
28	chr9:141014000-141014400	Strong transcription	Brain Germinal Matrix	brain
29	chr9:141014400-141017000	ZNF genes & repeats	Brain Germinal Matrix	brain
30	chr9:141014800-141015200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr9:141015400-141016800	Strong transcription	Brain Cingulate Gyrus	brain
32	chr9:141015600-141017400	Strong transcription	Brain Inferior Temporal Lobe	brain
33	chr9:141015800-141016800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
34	chr9:141016200-141016800	Strong transcription	Pancreatic Islets	Pancreatic Islet
35	chr9:141016200-141017000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr9:141016200-141017400	Strong transcription	Brain Anterior Caudate	brain
37	chr9:141016200-141017800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
38	chr9:141016600-141017600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
39	chr9:141016800-141017800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr9:141016800-141018400	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr9:141016800-141019000	Weak transcription	Brain Cingulate Gyrus	brain
42	chr9:141017400-141019000	Weak transcription	Brain Anterior Caudate	brain
43	chr9:141017400-141019000	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr9:141017600-141019200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr9:141017600-141019400	Weak transcription	Fetal Brain Female	brain
46	chr9:141019000-141020800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
47	chr9:141020600-141020800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr9:141022600-141023400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr9:141022600-141023400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr9:141023400-141023800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell

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