Variant report

Variant	nsv894685
Chromosome Location	chr9:140996885-141036645
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:397)
CpG islands
(count:610)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:397 , 50 per page) page: 1 2 3 4 5 6 7 8

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	chr9:141020692-141020855	GM12878	blood:	n/a	n/a
3	ATF3	chr9:141020637-141020864	K562	blood:	n/a	n/a
4	BATF	chr9:141020609-141020912	GM12878	blood:	n/a	n/a
5	BATF	chr9:141023409-141023594	GM12878	blood:	n/a	n/a
6	BCL11A	chr9:141023414-141023612	GM12878	blood:	n/a	n/a
7	CBX3	chr9:141020180-141021846	K562	blood:	n/a	n/a
8	CBX3	chr9:141023337-141023724	K562	blood:	n/a	n/a
9	CBX3	chr9:141020423-141021627	K562	blood:	n/a	n/a
10	CBX3	chr9:141023334-141023686	K562	blood:	n/a	n/a
11	CEBPB	chr9:141020544-141021559	GM12878	blood:	n/a	n/a
12	CEBPB	chr9:141020616-141021529	K562	blood:	n/a	n/a
13	CEBPB	chr9:141021040-141021243	GM12878	blood:	n/a	n/a
14	CEBPB	chr9:141020799-141021006	GM12878	blood:	n/a	n/a
15	CEBPD	chr9:141027620-141027978	K562	blood:	n/a	n/a
16	CTCF	chr9:141008480-141008630	A549	lung:	n/a	n/a
17	CTCF	chr9:141008302-141008417	Hela-S3	cervix:	n/a	n/a
18	CTCF	chr9:141021910-141021993	GM19240	blood:	n/a	n/a
19	CTCF	chr9:141020440-141020590	GM12870	blood:	n/a	n/a
20	CTCF	chr9:141020700-141020850	GM12866	blood:	n/a	n/a
21	CTCF	chr9:141020680-141020830	GM12872	blood:	n/a	n/a
22	CTCF	chr9:141007920-141008033	Fibrobl	skin:	n/a	n/a
23	CTCF	chr9:141020670-141021587	A549	lung:	n/a	n/a
24	CTCF	chr9:141007654-141008573	A549	lung:	n/a	n/a
25	CTCF	chr9:141008500-141008650	GM12873	blood:	n/a	n/a
26	CTCF	chr9:141007612-141008756	A549	lung:	n/a	chr9:141008656-141008665
27	CTCF	chr9:141023006-141023093	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr9:141017428-141017501	ProgFib	skin:	n/a	n/a
29	CTCF	chr9:141023530-141023544	K562	blood:	n/a	n/a
30	CTCF	chr9:141008081-141008160	GM12878	blood:	n/a	n/a
31	CTCF	chr9:141008200-141008350	GM06990	blood:	n/a	n/a
32	CTCF	chr9:141007964-141008017	GM13977	blood:	n/a	n/a
33	CTCF	chr9:141008220-141008370	A549	lung:	n/a	n/a
34	CTCF	chr9:141020420-141020570	GM12864	blood:	n/a	n/a
35	CTCF	chr9:141020680-141020830	GM12874	blood:	n/a	n/a
36	CTCF	chr9:141007798-141008611	K562	blood:	n/a	n/a
37	CTCF	chr9:141007816-141008523	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr9:141008270-141008454	Medullo	brain:	n/a	n/a
39	CTCF	chr9:141020700-141020850	GM12869	blood:	n/a	n/a
40	CTCF	chr9:141020380-141021987	K562	blood:	n/a	n/a
41	CTCF	chr9:141008087-141008288	Hela-S3	cervix:	n/a	n/a
42	CTCF	chr9:141020680-141020830	GM12875	blood:	n/a	n/a
43	CTCF	chr9:141020680-141020830	WERI-Rb-1	eye:	n/a	n/a
44	CTCF	chr9:141008260-141008410	GM12873	blood:	n/a	n/a
45	CTCF	chr9:141021914-141021999	GM12891	blood:	n/a	n/a
46	CTCF	chr9:141007780-141007930	BE2_C	brain:	n/a	n/a
47	CTCF	chr9:141020700-141020850	GM12865	blood:	n/a	n/a
48	CTCF	chr9:141020700-141020850	GM12871	blood:	n/a	n/a
49	CTCF	chr9:141020919-141021071	HepG2	liver:	n/a	n/a
50	CTCF	chr9:141008021-141008139	GM13977	blood:	n/a	n/a

(count:610 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:141014674-141014724	Hepatocyte	liver:	n/a
2	chr9:141022253-141022303	PANC-1	pancreas:	n/a
3	chr9:141013537-141013587	NH-A	brain:	n/a
4	chr9:141013112-141013162	LNCaP	prostate:	n/a
5	chr9:141022253-141022303	A549	lung:	n/a
6	chr9:141014674-141014724	AG10803	skin:	n/a
7	chr9:141017457-141017507	HRPEpiC	eye:	n/a
8	chr9:141007633-141007683	RPTEC	kidney:	n/a
9	chr9:141016367-141016417	Hepatocyte	liver:	n/a
10	chr9:141013537-141013587	AG04449	skin:	fetal
11	chr9:141013112-141013162	H1-hESC	embryonic stem cell:	embryo
12	chr9:141022253-141022303	HEEpiC	esophagus:	n/a
13	chr9:141017001-141017051	BE2_C	brain:	n/a
14	chr9:141016791-141016841	HRPEpiC	eye:	n/a
15	chr9:141016367-141016417	HRCEpiC	kidney:	n/a
16	chr9:141017001-141017051	IMR90	lung:	fetal
17	chr9:141017001-141017051	NHDF-neo	bronchial:	n/a
18	chr9:141016367-141016417	BJ	skin:	n/a
19	chr9:141012312-141012362	HCF	heart:	n/a
20	chr9:141017457-141017507	NHDF-neo	bronchial:	n/a
21	chr9:141012312-141012362	A549	lung:	n/a
22	chr9:141017457-141017507	SK-N-MC	brain:	n/a
23	chr9:141017457-141017507	SK-N-SH_RA	brain:	n/a
24	chr9:141017001-141017051	NB4	blood:	n/a
25	chr9:141007633-141007683	HCF	heart:	n/a
26	chr9:141013537-141013587	H1-hESC	embryonic stem cell:	embryo
27	chr9:141007633-141007683	GM12878	blood:	n/a
28	chr9:141007633-141007683	Caco-2	colon:	n/a
29	chr9:141013112-141013162	NB4	blood:	n/a
30	chr9:141014674-141014724	MCF10A-Er-Src	breast:	n/a
31	chr9:141013537-141013587	HCT-116	colon:	n/a
32	chr9:141013537-141013587	NB4	blood:	n/a
33	chr9:141016367-141016417	HAEpiC	amniotic membrane:	n/a
34	chr9:141007633-141007683	HepG2	liver:	n/a
35	chr9:141017457-141017507	GM12892	blood:	n/a
36	chr9:141017457-141017507	HCPEpiC	choroid plexus:	n/a
37	chr9:141014674-141014724	BE2_C	brain:	n/a
38	chr9:141014674-141014724	PrEC	prostate:	n/a
39	chr9:141013112-141013162	PANC-1	pancreas:	n/a
40	chr9:141012312-141012362	AG04450	lung:	fetal
41	chr9:141016367-141016417	Caco-2	colon:	n/a
42	chr9:141016367-141016417	HCF	heart:	n/a
43	chr9:141013537-141013587	HRPEpiC	eye:	n/a
44	chr9:141012312-141012362	AG09319	gingival:	n/a
45	chr9:141017457-141017507	K562	blood:	n/a
46	chr9:141016367-141016417	AG09319	gingival:	n/a
47	chr9:141012312-141012362	PFSK-1	brain:	n/a
48	chr9:141022253-141022303	HCT-116	colon:	n/a
49	chr9:141013112-141013162	GM12878	blood:	n/a
50	chr9:141017001-141017051	NH-A	brain:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:140991128..140993433-chr9:140998381..141000455,2	K562	blood:
2	chr9:141007252..141009770-chr9:141014340..141016354,2	MCF-7	breast:
3	chr9:137024514..137025058-chr9:141013083..141013583,2	HCT-116	colon:
4	chr9:140948638..140949637-chr9:141008065..141008656,3	MCF-7	breast:
5	chr9:141011439..141013713-chr9:141015634..141018380,2	K562	blood:
6	chr9:141007252..141009770-chr9:141014340..141016354,2	MCF-7	breast:
7	chr9:141011439..141013713-chr9:141015634..141018380,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000229926	TF binding region
ENSG00000229926	CpG island

Extended variants
information (count: 2333 )
Associated
traits (count: 19 )

Variant overlapped rSNPs/rCNVs (count:2333 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4540474	chr9:140996885-140996886	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562128211	chr9:140996891-140996892	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572580069	chr9:140996900-140996901	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181038089	chr9:140996901-140996902	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545222735	chr9:140996915-140996916	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560340751	chr9:140996942-140996943	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565109610	chr9:140996955-140996956	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116659851	chr9:140997022-140997023	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552473192	chr9:140997055-140997056	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs141268739	chr9:140997071-140997072	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557756130	chr9:140997075-140997076	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531175559	chr9:140997082-140997083	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs45485996	chr9:140997090-140997091	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs567770723	chr9:140997135-140997136	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7042754	chr9:140997146-140997147	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200928649	chr9:140997152-140997153	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370345897	chr9:140997167-140997168	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201918992	chr9:140997180-140997181	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200100830	chr9:140997184-140997185	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201043347	chr9:140997185-140997186	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368307029	chr9:140997214-140997215	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75653488	chr9:140997229-140997230	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs202193583	chr9:140997257-140997258	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200226511	chr9:140997265-140997266	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201366929	chr9:140997271-140997272	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs202091894	chr9:140997276-140997277	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200281207	chr9:140997278-140997279	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201060699	chr9:140997279-140997280	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201624317	chr9:140997282-140997283	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571057289	chr9:140997317-140997318	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201039310	chr9:140997350-140997351	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs398087621	chr9:140997351-140997352	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200003254	chr9:140997353-140997354	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539719410	chr9:140997357-140997358	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556786936	chr9:140997358-140997359	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576822352	chr9:140997391-140997392	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76185242	chr9:140997399-140997400	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375461922	chr9:140997476-140997477	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555799874	chr9:140997514-140997515	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs117556930	chr9:140997547-140997548	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540491784	chr9:140997573-140997574	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112001411	chr9:140997582-140997583	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373249456	chr9:140997625-140997626	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12686672	chr9:140997685-140997686	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs184512498	chr9:140997796-140997797	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530728008	chr9:140997822-140997823	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562404872	chr9:140997850-140997851	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531507705	chr9:140997859-140997860	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547782289	chr9:140997890-140997891	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561390003	chr9:140997903-140997904	Enhancers 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:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:140976000-141000000	Weak transcription	Brain Angular Gyrus	brain
2	chr9:140987000-140998200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr9:140988200-141044600	Weak transcription	Right Atrium	heart
4	chr9:140989600-141000000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr9:140991000-140998400	Strong transcription	Brain Germinal Matrix	brain
6	chr9:140994000-140999800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr9:140994200-140997200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr9:140994200-141013000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr9:140994600-140997200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr9:140994600-141008400	Weak transcription	Brain Anterior Caudate	brain
11	chr9:140996000-140999600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr9:140996400-140997200	Weak transcription	Fetal Brain Female	brain
13	chr9:140997000-140997600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr9:140997200-140999200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr9:140997200-141000800	Strong transcription	Fetal Brain Female	brain
16	chr9:140997400-140998400	Enhancers	Fetal Muscle Trunk	muscle
17	chr9:140997400-140999200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr9:140997400-140999800	Enhancers	Fetal Muscle Leg	muscle
19	chr9:140997600-140999000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr9:140998200-140999200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr9:140998400-141000000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr9:140998400-141009800	Weak transcription	Brain Germinal Matrix	brain
23	chr9:140999000-140999200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr9:140999200-141002000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr9:140999600-141001000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr9:140999800-141000800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr9:141000000-141000400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
28	chr9:141000000-141000600	Strong transcription	Brain Angular Gyrus	brain
29	chr9:141000400-141016600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr9:141000600-141011000	Weak transcription	Brain Angular Gyrus	brain
31	chr9:141000800-141009200	Weak transcription	Fetal Brain Female	brain
32	chr9:141000800-141009400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr9:141001000-141006600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr9:141006600-141006800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr9:141006800-141009600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr9:141007400-141007800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
37	chr9:141008400-141008800	Active TSS	Brain Anterior Caudate	brain
38	chr9:141008400-141009000	Active TSS	A549	lung
39	chr9:141008600-141008800	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr9:141008600-141009000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
41	chr9:141008800-141009400	Weak transcription	Brain Anterior Caudate	brain
42	chr9:141008800-141015600	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr9:141009000-141009200	Bivalent Enhancer	A549	lung
44	chr9:141009200-141017600	Strong transcription	Fetal Brain Female	brain
45	chr9:141009400-141009800	Strong transcription	Brain Anterior Caudate	brain
46	chr9:141009400-141010600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr9:141009600-141012400	Strong transcription	Brain Cingulate Gyrus	brain
48	chr9:141009800-141011200	Strong transcription	Brain Germinal Matrix	brain
49	chr9:141009800-141012000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr9:141009800-141016200	Weak transcription	Brain Anterior Caudate	brain

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