Variant report

Variant	nsv466692
Chromosome Location	chr9:141004945-141027939
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:345)
CpG islands
(count:611)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:345 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr9:141020637-141020864	K562	blood:	n/a	n/a
2	ATF3	chr9:141020689-141020889	GM12878	blood:	n/a	n/a
3	ATF3	chr9:141020692-141020855	GM12878	blood:	n/a	n/a
4	BATF	chr9:141023409-141023594	GM12878	blood:	n/a	n/a
5	BATF	chr9:141020609-141020912	GM12878	blood:	n/a	n/a
6	BCL11A	chr9:141023414-141023612	GM12878	blood:	n/a	n/a
7	CBX3	chr9:141020423-141021627	K562	blood:	n/a	n/a
8	CBX3	chr9:141023337-141023724	K562	blood:	n/a	n/a
9	CBX3	chr9:141020180-141021846	K562	blood:	n/a	n/a
10	CBX3	chr9:141023334-141023686	K562	blood:	n/a	n/a
11	CEBPB	chr9:141021040-141021243	GM12878	blood:	n/a	n/a
12	CEBPB	chr9:141020544-141021559	GM12878	blood:	n/a	n/a
13	CEBPB	chr9:141020799-141021006	GM12878	blood:	n/a	n/a
14	CEBPB	chr9:141020616-141021529	K562	blood:	n/a	n/a
15	CEBPD	chr9:141027620-141027978	K562	blood:	n/a	n/a
16	CTCF	chr9:141008083-141008087	GM12892	blood:	n/a	n/a
17	CTCF	chr9:141020680-141020830	K562	blood:	n/a	n/a
18	CTCF	chr9:141020700-141020850	GM12865	blood:	n/a	n/a
19	CTCF	chr9:141008480-141008630	BE2_C	brain:	n/a	n/a
20	CTCF	chr9:141021914-141021999	GM12891	blood:	n/a	n/a
21	CTCF	chr9:141007458-141007627	A549	lung:	n/a	n/a
22	CTCF	chr9:141007828-141008046	T-47D	breast:	n/a	n/a
23	CTCF	chr9:141020420-141020570	GM12872	blood:	n/a	n/a
24	CTCF	chr9:141007816-141008563	K562	blood:	n/a	n/a
25	CTCF	chr9:141020670-141021587	A549	lung:	n/a	n/a
26	CTCF	chr9:141007954-141008051	GM13976	blood:	n/a	n/a
27	CTCF	chr9:141023382-141023632	K562	blood:	n/a	n/a
28	CTCF	chr9:141020680-141020830	BE2_C	brain:	n/a	n/a
29	CTCF	chr9:141020610-141021584	A549	lung:	n/a	n/a
30	CTCF	chr9:141007901-141008249	GM12891	blood:	n/a	n/a
31	CTCF	chr9:141007816-141008523	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr9:141021912-141021992	GM13977	blood:	n/a	n/a
33	CTCF	chr9:141007964-141008017	GM13977	blood:	n/a	n/a
34	CTCF	chr9:141008520-141008670	A549	lung:	n/a	chr9:141008656-141008665
35	CTCF	chr9:141027739-141027748	GM13976	blood:	n/a	n/a
36	CTCF	chr9:141021951-141022099	GM10248	blood:	n/a	n/a
37	CTCF	chr9:141020680-141020830	GM12878	blood:	n/a	n/a
38	CTCF	chr9:141020680-141020830	HCPEpiC	choroid plexus:	n/a	n/a
39	CTCF	chr9:141020600-141020750	GM12870	blood:	n/a	n/a
40	CTCF	chr9:141020619-141020889	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr9:141020680-141020830	GM12875	blood:	n/a	n/a
42	CTCF	chr9:141020580-141020730	HCFaa	heart:	n/a	n/a
43	CTCF	chr9:141008220-141008370	SK-N-SH_RA	brain:	n/a	n/a
44	CTCF	chr9:141007729-141008045	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr9:141026720-141026870	HCFaa	heart:	n/a	n/a
46	CTCF	chr9:141007612-141008756	A549	lung:	n/a	chr9:141008656-141008665
47	CTCF	chr9:141020700-141020850	GM12869	blood:	n/a	n/a
48	CTCF	chr9:141020700-141020850	GM12870	blood:	n/a	n/a
49	CTCF	chr9:141020380-141020530	GM12865	blood:	n/a	n/a
50	CTCF	chr9:141008212-141008575	LNCaP	prostate:	n/a	n/a

(count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:141007633-141007683	PANC-1	pancreas:	n/a
2	chr9:141007633-141007683	PANC-1	pancreas:	n/a
3	chr9:141007633-141007683	SKMC	muscle:	n/a
4	chr9:141013112-141013162	NH-A	brain:	n/a
5	chr9:141013112-141013162	MCF10A-Er-Src	breast:	n/a
6	chr9:141012312-141012362	GM12891	blood:	n/a
7	chr9:141022253-141022303	IMR90	lung:	fetal
8	chr9:141014674-141014724	AG09309	skin:	n/a
9	chr9:141013537-141013587	HNPCEpiC	eye:	n/a
10	chr9:141012312-141012362	HUVEC	blood vessel:	n/a
11	chr9:141017001-141017051	HAEpiC	amniotic membrane:	n/a
12	chr9:141013112-141013162	Hepatocyte	liver:	n/a
13	chr9:141014674-141014724	AG04449	skin:	fetal
14	chr9:141016367-141016417	SK-N-SH	brain:	n/a
15	chr9:141017457-141017507	HL-60	blood:	n/a
16	chr9:141012312-141012362	NH-A	brain:	n/a
17	chr9:141017001-141017051	MCF-7	breast:	n/a
18	chr9:141016791-141016841	ProgFib	skin:	n/a
19	chr9:141016791-141016841	HUVEC	blood vessel:	n/a
20	chr9:141016367-141016417	CMK	blood:	n/a
21	chr9:141013112-141013162	HUVEC	blood vessel:	n/a
22	chr9:141012312-141012362	PFSK-1	brain:	n/a
23	chr9:141013537-141013587	AG10803	skin:	n/a
24	chr9:141014674-141014724	HEK293	kidney:	embryo
25	chr9:141013112-141013162	GM12878	blood:	n/a
26	chr9:141022253-141022303	ECC-1	luminal epithelium:	n/a
27	chr9:141007633-141007683	NB4	blood:	n/a
28	chr9:141013537-141013587	HCT-116	colon:	n/a
29	chr9:141013537-141013587	RPTEC	kidney:	n/a
30	chr9:141022253-141022303	MCF-7	breast:	n/a
31	chr9:141017457-141017507	IMR90	lung:	fetal
32	chr9:141014674-141014724	Hela-S3	cervix:	n/a
33	chr9:141016367-141016417	GM12878	blood:	n/a
34	chr9:141013112-141013162	HCT-116	colon:	n/a
35	chr9:141014674-141014724	Hepatocyte	liver:	n/a
36	chr9:141017457-141017507	GM12891	blood:	n/a
37	chr9:141013537-141013587	SK-N-SH	brain:	n/a
38	chr9:141013112-141013162	HEEpiC	esophagus:	n/a
39	chr9:141016367-141016417	AG04450	lung:	fetal
40	chr9:141022253-141022303	LNCaP	prostate:	n/a
41	chr9:141016367-141016417	HEK293	kidney:	embryo
42	chr9:141022253-141022303	SK-N-SH_RA	brain:	n/a
43	chr9:141007633-141007683	SK-N-MC	brain:	n/a
44	chr9:141016367-141016417	HRPEpiC	eye:	n/a
45	chr9:141022253-141022303	HRCEpiC	kidney:	n/a
46	chr9:141022253-141022303	Jurkat	blood:	n/a
47	chr9:141016791-141016841	GM19239	blood:	n/a
48	chr9:141016367-141016417	HMEC	breast:	n/a
49	chr9:141017457-141017507	NHBE	bronchial:	n/a
50	chr9:141013537-141013587	NB4	blood:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:141011439..141013713-chr9:141015634..141018380,2	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	chr9:141011439..141013713-chr9:141015634..141018380,2	K562	blood:
5	chr9:140948638..140949637-chr9:141008065..141008656,3	MCF-7	breast:
6	chr9:141007252..141009770-chr9:141014340..141016354,2	MCF-7	breast:

No data

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

Extended variants
information (count: 1512 )
Associated
traits (count: 19 )

Variant overlapped rSNPs/rCNVs (count:1512 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11137372	chr9:141004945-141004946	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs377476409	chr9:141004956-141004957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533647981	chr9:141005050-141005051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564145727	chr9:141005052-141005053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs60823546	chr9:141005053-141005054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115029941	chr9:141005076-141005077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376223304	chr9:141005086-141005087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570379738	chr9:141005141-141005142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183426010	chr9:141005225-141005226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187682037	chr9:141005279-141005280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140417926	chr9:141005280-141005281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs77388653	chr9:141005293-141005294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs74312742	chr9:141005309-141005310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114065454	chr9:141005313-141005314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539263206	chr9:141005367-141005368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556569354	chr9:141005371-141005372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555997664	chr9:141005375-141005376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374333142	chr9:141005382-141005383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192972646	chr9:141005388-141005389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541804381	chr9:141005394-141005395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149485151	chr9:141005398-141005399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561572488	chr9:141005403-141005404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114101664	chr9:141005411-141005412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138052406	chr9:141005417-141005418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs62579483	chr9:141005428-141005429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564194305	chr9:141005430-141005431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533532322	chr9:141005431-141005432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550407840	chr9:141005442-141005443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77173750	chr9:141005443-141005444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563925281	chr9:141005444-141005445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs74312743	chr9:141005450-141005451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549342019	chr9:141005459-141005460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565968542	chr9:141005502-141005503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535037136	chr9:141005589-141005590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551426292	chr9:141005594-141005595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147184116	chr9:141005615-141005616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138733184	chr9:141005636-141005637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs72770904	chr9:141005641-141005642	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs1378954	chr9:141005656-141005657	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs142727043	chr9:141005660-141005661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555324007	chr9:141005674-141005675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147365299	chr9:141005676-141005677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541037693	chr9:141005744-141005745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564131551	chr9:141005751-141005752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9314645	chr9:141005753-141005754	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs766373	chr9:141005772-141005773	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs376973808	chr9:141005792-141005793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113575360	chr9:141005806-141005807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553460442	chr9:141005816-141005817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576385021	chr9:141005817-141005818	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:70 , 50 per page) page: 1 2

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	chr9:140994600-141008400	Weak transcription	Brain Anterior Caudate	brain
4	chr9:140998400-141009800	Weak transcription	Brain Germinal Matrix	brain
5	chr9:141000400-141016600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr9:141000600-141011000	Weak transcription	Brain Angular Gyrus	brain
7	chr9:141000800-141009200	Weak transcription	Fetal Brain Female	brain
8	chr9:141000800-141009400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr9:141001000-141006600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr9:141006600-141006800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr9:141006800-141009600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr9:141007400-141007800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
13	chr9:141008400-141008800	Active TSS	Brain Anterior Caudate	brain
14	chr9:141008400-141009000	Active TSS	A549	lung
15	chr9:141008600-141008800	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr9:141008600-141009000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
17	chr9:141008800-141009400	Weak transcription	Brain Anterior Caudate	brain
18	chr9:141008800-141015600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr9:141009000-141009200	Bivalent Enhancer	A549	lung
20	chr9:141009200-141017600	Strong transcription	Fetal Brain Female	brain
21	chr9:141009400-141009800	Strong transcription	Brain Anterior Caudate	brain
22	chr9:141009400-141010600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr9:141009600-141012400	Strong transcription	Brain Cingulate Gyrus	brain
24	chr9:141009800-141011200	Strong transcription	Brain Germinal Matrix	brain
25	chr9:141009800-141012000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr9:141009800-141016200	Weak transcription	Brain Anterior Caudate	brain
27	chr9:141010600-141013400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr9:141011000-141012600	Strong transcription	Brain Angular Gyrus	brain
29	chr9:141011200-141012000	Weak transcription	Brain Germinal Matrix	brain
30	chr9:141012000-141012800	Strong transcription	Brain Germinal Matrix	brain
31	chr9:141012000-141017600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr9:141012400-141015400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr9:141012600-141022200	Weak transcription	Brain Angular Gyrus	brain
34	chr9:141012800-141013200	Weak transcription	Brain Germinal Matrix	brain
35	chr9:141013000-141013200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr9:141013000-141018000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
37	chr9:141013200-141014000	ZNF genes & repeats	Brain Germinal Matrix	brain
38	chr9:141013200-141015800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr9:141013200-141016200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr9:141013400-141013600	Enhancers	Spleen	Spleen
41	chr9:141013400-141017600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr9:141013600-141014000	Weak transcription	Spleen	Spleen
43	chr9:141013800-141016200	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr9:141014000-141014200	Active TSS	Spleen	Spleen
45	chr9:141014000-141014400	Strong transcription	Brain Germinal Matrix	brain
46	chr9:141014400-141017000	ZNF genes & repeats	Brain Germinal Matrix	brain
47	chr9:141014800-141015200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr9:141015400-141016800	Strong transcription	Brain Cingulate Gyrus	brain
49	chr9:141015600-141017400	Strong transcription	Brain Inferior Temporal Lobe	brain
50	chr9:141015800-141016800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell

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