Variant report

Variant	nsv1036681
Chromosome Location	chr9:141005656-141091382
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	chr9:141054176-141054450	A549	lung:	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	ATF3	chr9:141020637-141020864	K562	blood:	n/a	n/a
5	BATF	chr9:141023409-141023594	GM12878	blood:	n/a	n/a
6	BATF	chr9:141020609-141020912	GM12878	blood:	n/a	n/a
7	BATF	chr9:141082701-141083207	GM12878	blood:	n/a	chr9:141082765-141082773
8	BATF	chr9:141054182-141054368	GM12878	blood:	n/a	n/a
9	BATF	chr9:141050185-141050584	GM12878	blood:	n/a	n/a
10	BATF	chr9:141064102-141064298	GM12878	blood:	n/a	n/a
11	BCL11A	chr9:141054141-141054402	GM12878	blood:	n/a	n/a
12	BCL11A	chr9:141067698-141067987	GM12878	blood:	n/a	n/a
13	BCL11A	chr9:141023414-141023612	GM12878	blood:	n/a	n/a
14	BCL11A	chr9:141054194-141054361	GM12878	blood:	n/a	n/a
15	BHLHE40	chr9:141044398-141044667	HepG2	liver:	n/a	n/a
16	BHLHE40	chr9:141061417-141061666	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	chr9:141044327-141044724	K562	blood:	n/a	n/a
20	CBX3	chr9:141020423-141021627	K562	blood:	n/a	n/a
21	CBX3	chr9:141020180-141021846	K562	blood:	n/a	n/a
22	CBX3	chr9:141023337-141023724	K562	blood:	n/a	n/a
23	CEBPB	chr9:141020616-141021529	K562	blood:	n/a	n/a
24	CEBPB	chr9:141066417-141066641	MCF-7	breast:	n/a	n/a
25	CEBPB	chr9:141020544-141021559	GM12878	blood:	n/a	n/a
26	CEBPB	chr9:141021040-141021243	GM12878	blood:	n/a	n/a
27	CEBPB	chr9:141020799-141021006	GM12878	blood:	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	chr9:141044372-141044665	MCF-7	breast:	n/a	chr9:141044508-141044521 chr9:141044506-141044522 chr9:141044505-141044523
31	CTCF	chr9:141044380-141044530	GM12875	blood:	n/a	chr9:141044508-141044521 chr9:141044506-141044522 chr9:141044505-141044523
32	CTCF	chr9:141042063-141042215	HUVEC	blood vessel:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
33	CTCF	chr9:141044340-141044490	GM06990	blood:	n/a	n/a
34	CTCF	chr9:141020400-141020550	GM12875	blood:	n/a	n/a
35	CTCF	chr9:141044480-141044630	HepG2	liver:	n/a	chr9:141044508-141044521 chr9:141044506-141044522 chr9:141044505-141044523
36	CTCF	chr9:141044400-141044550	SK-N-SH_RA	brain:	n/a	chr9:141044508-141044521 chr9:141044506-141044522 chr9:141044505-141044523
37	CTCF	chr9:141044380-141044530	NB4	blood:	n/a	chr9:141044508-141044521 chr9:141044506-141044522 chr9:141044505-141044523
38	CTCF	chr9:141007828-141008046	T-47D	breast:	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	chr9:141073580-141073730	HEK293	kidney:	n/a	chr9:141073602-141073615
41	CTCF	chr9:141008220-141008370	A549	lung:	n/a	n/a
42	CTCF	chr9:141042060-141042210	HMEC	breast:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
43	CTCF	chr9:141073580-141073730	Hela-S3	cervix:	n/a	chr9:141073602-141073615
44	CTCF	chr9:141073560-141073710	HCT-116	colon:	n/a	chr9:141073602-141073615
45	CTCF	chr9:141022814-141022870	GM10248	blood:	n/a	n/a
46	CTCF	chr9:141044417-141044618	GM19239	blood:	n/a	chr9:141044508-141044521 chr9:141044506-141044522 chr9:141044505-141044523
47	CTCF	chr9:141044365-141044656	K562	blood:	n/a	chr9:141044508-141044521 chr9:141044506-141044522 chr9:141044505-141044523
48	CTCF	chr9:141020700-141020850	GM12870	blood:	n/a	n/a
49	CTCF	chr9:141042060-141042210	K562	blood:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
50	CTCF	chr9:141044387-141044656	ProgFib	skin:	n/a	chr9:141044508-141044521 chr9:141044506-141044522 chr9:141044505-141044523

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:141069847-141069897	Hepatocyte	liver:	n/a
2	chr9:141022253-141022303	HCM	heart:	n/a
3	chr9:141069847-141069897	Hepatocyte	liver:	n/a
4	chr9:141022253-141022303	HCM	heart:	n/a
5	chr9:141045017-141045067	SKMC	muscle:	n/a
6	chr9:141044509-141044559	RPTEC	kidney:	n/a
7	chr9:141044509-141044559	HNPCEpiC	eye:	n/a
8	chr9:141069847-141069897	PANC-1	pancreas:	n/a
9	chr9:141016367-141016417	NB4	blood:	n/a
10	chr9:141022253-141022303	AG09309	skin:	n/a
11	chr9:141022253-141022303	AG09319	gingival:	n/a
12	chr9:141067944-141067994	HRE	kidney:	n/a
13	chr9:141016367-141016417	AG04449	skin:	fetal
14	chr9:141014674-141014724	K562	blood:	n/a
15	chr9:141042453-141042503	CMK	blood:	n/a
16	chr9:141067944-141067994	RPTEC	kidney:	n/a
17	chr9:141044509-141044559	ovcar-3	ovarian:	n/a
18	chr9:141045017-141045067	RPTEC	kidney:	n/a
19	chr9:141042453-141042503	HRPEpiC	eye:	n/a
20	chr9:141016791-141016841	CMK	blood:	n/a
21	chr9:141016791-141016841	SK-N-MC	brain:	n/a
22	chr9:141045017-141045067	HEEpiC	esophagus:	n/a
23	chr9:141042435-141042485	HNPCEpiC	eye:	n/a
24	chr9:141016367-141016417	SAEC	small airway:	n/a
25	chr9:141016367-141016417	IMR90	lung:	fetal
26	chr9:141014674-141014724	GM06990	blood:	n/a
27	chr9:141014674-141014724	MCF10A-Er-Src	breast:	n/a
28	chr9:141042453-141042503	SK-N-SH	brain:	n/a
29	chr9:141012312-141012362	GM12892	blood:	n/a
30	chr9:141013112-141013162	CMK	blood:	n/a
31	chr9:141013112-141013162	GM12892	blood:	n/a
32	chr9:141016791-141016841	NHDF-neo	bronchial:	n/a
33	chr9:141013537-141013587	MCF10A-Er-Src	breast:	n/a
34	chr9:141042435-141042485	GM19239	blood:	n/a
35	chr9:141013112-141013162	BJ	skin:	n/a
36	chr9:141069847-141069897	HCM	heart:	n/a
37	chr9:141045017-141045067	NB4	blood:	n/a
38	chr9:141016791-141016841	NT2-D1	testis:	n/a
39	chr9:141013112-141013162	SKMC	muscle:	n/a
40	chr9:141042453-141042503	HL-60	blood:	n/a
41	chr9:141017001-141017051	IMR90	lung:	fetal
42	chr9:141017457-141017507	GM12891	blood:	n/a
43	chr9:141017457-141017507	GM12878	blood:	n/a
44	chr9:141042435-141042485	NHBE	bronchial:	n/a
45	chr9:141017001-141017051	NHDF-neo	bronchial:	n/a
46	chr9:141017457-141017507	AoSMC	blood vessel:	n/a
47	chr9:141067944-141067994	GM12892	blood:	n/a
48	chr9:141016367-141016417	HNPCEpiC	eye:	n/a
49	chr9:141042453-141042503	RPTEC	kidney:	n/a
50	chr9:141017457-141017507	SKMC	muscle:	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:141011439..141013713-chr9:141015634..141018380,2	K562	blood:
2	chr1:811815..813428-chr9:141073371..141075327,2	K562	blood:
3	chr9:137024514..137025058-chr9:141013083..141013583,2	HCT-116	colon:
4	chr9:140948638..140949637-chr9:141008065..141008656,3	MCF-7	breast:
5	chr10:122225..122779-chr9:141041705..141042205,2	MCF-7	breast:
6	chr9:141007252..141009770-chr9:141014340..141016354,2	MCF-7	breast:
7	chr10:122219..122922-chr9:141042181..141042681,2	MCF-7	breast:
8	chr9:141011439..141013713-chr9:141015634..141018380,2	K562	blood:
9	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: 3313 )
Associated
traits (count: 19 )

Variant overlapped rSNPs/rCNVs (count:3313 , 50 per page) page: 1 2 3 4 5 6 7 ... 67

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1378954	chr9:141005656-141005657	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs142727043	chr9:141005660-141005661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555324007	chr9:141005674-141005675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147365299	chr9:141005676-141005677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541037693	chr9:141005744-141005745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564131551	chr9:141005751-141005752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs9314645	chr9:141005753-141005754	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs766373	chr9:141005772-141005773	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs376973808	chr9:141005792-141005793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113575360	chr9:141005806-141005807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553460442	chr9:141005816-141005817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576385021	chr9:141005817-141005818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs766375	chr9:141005820-141005821	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs183541730	chr9:141005880-141005881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528433215	chr9:141005908-141005909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551362871	chr9:141005941-141005942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112660438	chr9:141005947-141005948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34088544	chr9:141005963-141005964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs386739709	chr9:141005965-141005966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34296888	chr9:141005966-141005967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531097949	chr9:141005980-141005981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs72549988	chr9:141005988-141005989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs35095758	chr9:141005989-141005990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374525021	chr9:141005990-141005991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569781428	chr9:141005996-141005997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192824732	chr9:141006001-141006002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183837680	chr9:141006009-141006010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77965236	chr9:141006010-141006011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs766374	chr9:141006014-141006015	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs188453436	chr9:141006015-141006016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111664594	chr9:141006019-141006020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577804434	chr9:141006022-141006023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs116258228	chr9:141006030-141006031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530324884	chr9:141006034-141006035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs115089721	chr9:141006048-141006049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574116196	chr9:141006058-141006059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142994652	chr9:141006059-141006060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559747247	chr9:141006079-141006080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191404193	chr9:141006098-141006099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150687805	chr9:141006113-141006114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185013620	chr9:141006142-141006143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530893215	chr9:141006161-141006162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs35830709	chr9:141006165-141006166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112118810	chr9:141006174-141006175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201238415	chr9:141006185-141006186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527983278	chr9:141006189-141006190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373251662	chr9:141006190-141006191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567765438	chr9:141006203-141006204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143812778	chr9:141006207-141006208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77732577	chr9:141006226-141006227	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:286 , 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	chr9:140994600-141008400	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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