Variant report

Variant	nsv1036008
Chromosome Location	chr9:140969270-141091382
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1236)
CpG islands
(count:1037)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1236 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

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	chr9:141054176-141054450	A549	lung:	n/a	n/a
3	ATF3	chr9:141020692-141020855	GM12878	blood:	n/a	n/a
4	ATF3	chr9:141020689-141020889	GM12878	blood:	n/a	n/a
5	BATF	chr9:141020609-141020912	GM12878	blood:	n/a	n/a
6	BATF	chr9:141064102-141064298	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	chr9:141023409-141023594	GM12878	blood:	n/a	n/a
10	BATF	chr9:141050185-141050584	GM12878	blood:	n/a	n/a
11	BCL11A	chr9:141067698-141067987	GM12878	blood:	n/a	n/a
12	BCL11A	chr9:141023414-141023612	GM12878	blood:	n/a	n/a
13	BCL11A	chr9:141054194-141054361	GM12878	blood:	n/a	n/a
14	BCL11A	chr9:141054141-141054402	GM12878	blood:	n/a	n/a
15	BCL3	chr9:140993643-140993893	GM12878	blood:	n/a	n/a
16	BHLHE40	chr9:141061417-141061666	HepG2	liver:	n/a	n/a
17	BHLHE40	chr9:140993839-140994191	K562	blood:	n/a	n/a
18	BHLHE40	chr9:140993888-140994157	HepG2	liver:	n/a	n/a
19	BHLHE40	chr9:141044398-141044667	HepG2	liver:	n/a	n/a
20	CBX3	chr9:141023334-141023686	K562	blood:	n/a	n/a
21	CBX3	chr9:141020180-141021846	K562	blood:	n/a	n/a
22	CBX3	chr9:141020423-141021627	K562	blood:	n/a	n/a
23	CBX3	chr9:140980062-140980441	K562	blood:	n/a	n/a
24	CBX3	chr9:141044327-141044724	K562	blood:	n/a	n/a
25	CBX3	chr9:140980114-140980383	K562	blood:	n/a	n/a
26	CBX3	chr9:141041994-141042355	K562	blood:	n/a	n/a
27	CBX3	chr9:141023337-141023724	K562	blood:	n/a	n/a
28	CBX3	chr9:140980110-140980451	HCT-116	colon:	n/a	n/a
29	CEBPB	chr9:141020799-141021006	GM12878	blood:	n/a	n/a
30	CEBPB	chr9:140986585-140986794	H1-hESC	embryonic stem cell:	n/a	n/a
31	CEBPB	chr9:140986459-140986918	MCF-7	breast:	n/a	n/a
32	CEBPB	chr9:140990305-140990642	HepG2	liver:	n/a	chr9:140990481-140990492
33	CEBPB	chr9:141021040-141021243	GM12878	blood:	n/a	n/a
34	CEBPB	chr9:140988749-140988840	HepG2	liver:	n/a	chr9:140988798-140988809
35	CEBPB	chr9:140986589-140986844	MCF-7	breast:	n/a	n/a
36	CEBPB	chr9:140988747-140988822	K562	blood:	n/a	chr9:140988798-140988809
37	CEBPB	chr9:140990421-140990624	K562	blood:	n/a	chr9:140990481-140990492
38	CEBPB	chr9:140995552-140995750	H1-hESC	embryonic stem cell:	n/a	chr9:140995597-140995608
39	CEBPB	chr9:141020544-141021559	GM12878	blood:	n/a	n/a
40	CEBPB	chr9:140995470-140995766	HepG2	liver:	n/a	chr9:140995597-140995608
41	CEBPB	chr9:141066417-141066641	MCF-7	breast:	n/a	n/a
42	CEBPB	chr9:140995483-140995724	A549	lung:	n/a	chr9:140995597-140995608
43	CEBPB	chr9:140995545-140995733	IMR90	lung:	n/a	chr9:140995597-140995608
44	CEBPB	chr9:140990315-140990645	A549	lung:	n/a	chr9:140990481-140990492
45	CEBPB	chr9:141020616-141021529	K562	blood:	n/a	n/a
46	CEBPB	chr9:140995462-140995769	K562	blood:	n/a	chr9:140995597-140995608
47	CEBPB	chr9:140990326-140990648	Hela-S3	cervix:	n/a	chr9:140990481-140990492
48	CEBPD	chr9:141088557-141088959	K562	blood:	n/a	n/a
49	CEBPD	chr9:141027620-141027978	K562	blood:	n/a	n/a
50	CTCF	chr9:141044340-141044490	HRPEpiC	eye:	n/a	n/a

(count:1037 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:141042435-141042485	HL-60	blood:	n/a
2	chr9:141045017-141045067	NT2-D1	testis:	n/a
3	chr9:141014674-141014724	LNCaP	prostate:	n/a
4	chr9:141007633-141007683	HRE	kidney:	n/a
5	chr9:141016791-141016841	HCPEpiC	choroid plexus:	n/a
6	chr9:141017457-141017507	AG04449	skin:	fetal
7	chr9:141013112-141013162	HAEpiC	amniotic membrane:	n/a
8	chr9:141014674-141014724	A549	lung:	n/a
9	chr9:141016791-141016841	IMR90	lung:	fetal
10	chr9:141016367-141016417	GM12891	blood:	n/a
11	chr9:141016367-141016417	PFSK-1	brain:	n/a
12	chr9:141013112-141013162	GM06990	blood:	n/a
13	chr9:141013112-141013162	HRE	kidney:	n/a
14	chr9:140970188-140970238	HEK293	kidney:	embryo
15	chr9:141014674-141014724	HMEC	breast:	n/a
16	chr9:141017457-141017507	SK-N-SH	brain:	n/a
17	chr9:141069847-141069897	HRE	kidney:	n/a
18	chr9:141042435-141042485	ProgFib	skin:	n/a
19	chr9:141069847-141069897	HCF	heart:	n/a
20	chr9:141007633-141007683	ovcar-3	ovarian:	n/a
21	chr9:141042435-141042485	GM12878	blood:	n/a
22	chr9:141014674-141014724	U87	brain:	n/a
23	chr9:141016791-141016841	GM12892	blood:	n/a
24	chr9:141017457-141017507	PrEC	prostate:	n/a
25	chr9:141012312-141012362	HMEC	breast:	n/a
26	chr9:141016791-141016841	GM06990	blood:	n/a
27	chr9:141069847-141069897	Jurkat	blood:	n/a
28	chr9:141012312-141012362	NH-A	brain:	n/a
29	chr9:141014674-141014724	MCF-7	breast:	n/a
30	chr9:141007633-141007683	HL-60	blood:	n/a
31	chr9:141044509-141044559	CMK	blood:	n/a
32	chr9:141013112-141013162	MCF10A-Er-Src	breast:	n/a
33	chr9:141016791-141016841	T-47D	breast:	n/a
34	chr9:141016367-141016417	GM12892	blood:	n/a
35	chr9:141013537-141013587	HIPEpiC	eye:	n/a
36	chr9:141013112-141013162	SAEC	small airway:	n/a
37	chr9:141042453-141042503	HCPEpiC	choroid plexus:	n/a
38	chr9:141022253-141022303	GM06990	blood:	n/a
39	chr9:141013112-141013162	H1-hESC	embryonic stem cell:	embryo
40	chr9:141042435-141042485	IMR90	lung:	fetal
41	chr9:141069847-141069897	Caco-2	colon:	n/a
42	chr9:141012312-141012362	SKMC	muscle:	n/a
43	chr9:141017457-141017507	Caco-2	colon:	n/a
44	chr9:141042453-141042503	PrEC	prostate:	n/a
45	chr9:141042435-141042485	HRPEpiC	eye:	n/a
46	chr9:141045017-141045067	SK-N-SH	brain:	n/a
47	chr9:141044509-141044559	PFSK-1	brain:	n/a
48	chr9:141067944-141067994	PrEC	prostate:	n/a
49	chr9:141016367-141016417	PrEC	prostate:	n/a
50	chr9:141012312-141012362	HAEpiC	amniotic membrane:	n/a

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:140969366..140972281-chr9:140974102..140976549,3	MCF-7	breast:
2	chr9:141011439..141013713-chr9:141015634..141018380,2	K562	blood:
3	chr9:140949053..140949565-chr9:140995304..140996092,3	MCF-7	breast:
4	chr9:140966280..140969244-chr9:140971430..140973098,2	K562	blood:
5	chr9:137024514..137025058-chr9:141013083..141013583,2	HCT-116	colon:
6	chr1:811815..813428-chr9:141073371..141075327,2	K562	blood:
7	chr9:140963638..140966246-chr9:140975970..140978505,2	MCF-7	breast:
8	chr10:122225..122779-chr9:141041705..141042205,2	MCF-7	breast:
9	chr9:140991128..140993433-chr9:140998381..141000455,2	K562	blood:
10	chr10:122219..122922-chr9:141042181..141042681,2	MCF-7	breast:
11	chr9:140966280..140969244-chr9:140971233..140973098,3	K562	blood:
12	chr9:140991128..140993433-chr9:140998381..141000455,2	K562	blood:
13	chr9:140955941..140956581-chr9:140995170..140996036,2	MCF-7	breast:
14	chr9:141011439..141013713-chr9:141015634..141018380,2	K562	blood:
15	chr9:140948638..140949637-chr9:141008065..141008656,3	MCF-7	breast:
16	chr9:141007252..141009770-chr9:141014340..141016354,2	MCF-7	breast:
17	chr9:140955879..140956683-chr9:140995540..140996190,2	MCF-7	breast:
18	chr9:141007252..141009770-chr9:141014340..141016354,2	MCF-7	breast:

No data

Variant related genes	Relation type
TUBBP5	TF binding region
ENSG00000229926	TF binding region
CACNA1B	TF binding region
TUBBP5	CpG island
ENSG00000229926	CpG island
CACNA1B	CpG island
ENSG00000230368	chromatin interactions
ENSG00000148408	chromatin interactions

Extended variants
information (count: 4823 )
Associated
traits (count: 19 )

Variant overlapped rSNPs/rCNVs (count:4823 , 50 per page) page: 1 2 3 4 5 6 7 ... 97

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116675474	chr9:140969298-140969299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs114192147	chr9:140969300-140969301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143349478	chr9:140969301-140969302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551435280	chr9:140969323-140969324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571177186	chr9:140969327-140969328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536658195	chr9:140969336-140969337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182814214	chr9:140969338-140969339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73669860	chr9:140969375-140969376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536382918	chr9:140969383-140969384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11137363	chr9:140969391-140969392	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs573522025	chr9:140969443-140969444	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs539272459	chr9:140969444-140969445	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs11137364	chr9:140969445-140969446	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs151289572	chr9:140969540-140969541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544301768	chr9:140969541-140969542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10867104	chr9:140969592-140969593	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs187138667	chr9:140969618-140969619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574574727	chr9:140969664-140969665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140611739	chr9:140969669-140969670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148941557	chr9:140969682-140969683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs115829613	chr9:140969715-140969716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553316920	chr9:140969728-140969729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528273389	chr9:140969732-140969733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545248251	chr9:140969733-140969734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565051426	chr9:140969777-140969778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530500451	chr9:140969778-140969779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370056922	chr9:140969804-140969805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550285794	chr9:140969826-140969827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567306595	chr9:140969843-140969844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7032692	chr9:140969853-140969854	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs10780200	chr9:140969861-140969862	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs117556178	chr9:140969877-140969878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369003492	chr9:140969893-140969894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550474300	chr9:140969946-140969947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145689367	chr9:140969982-140969983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138254924	chr9:140970017-140970018	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs538562487	chr9:140970018-140970019	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs530677360	chr9:140970024-140970025	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs369954599	chr9:140970035-140970036	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574539888	chr9:140970039-140970040	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs372730106	chr9:140970052-140970053	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs544414721	chr9:140970071-140970072	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs191535943	chr9:140970078-140970079	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs142746221	chr9:140970080-140970081	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs41277875	chr9:140970097-140970098	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs367866018	chr9:140970131-140970132	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs184404619	chr9:140970168-140970169	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565118459	chr9:140970183-140970184	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs546403728	chr9:140970184-140970185	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs530702570	chr9:140970192-140970193	Weak transcription Strong transcription Enhancers	CpG island	1 gene(s)	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:404 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:140933000-140976400	Weak transcription	Right Atrium	heart
2	chr9:140954200-140979000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr9:140956800-140975200	Weak transcription	Brain Angular Gyrus	brain
4	chr9:140960800-140970600	Weak transcription	Fetal Brain Female	brain
5	chr9:140963600-140978600	Weak transcription	Fetal Brain Male	brain
6	chr9:140963800-140970000	Weak transcription	Brain Germinal Matrix	brain
7	chr9:140968000-140972600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr9:140968000-140977200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr9:140968200-140977400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr9:140968600-140972600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr9:140968600-140973000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr9:140968600-140975600	Weak transcription	Brain Anterior Caudate	brain
13	chr9:140968600-140980600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr9:140969200-140972600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr9:140969200-140980000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr9:140970000-140970200	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr9:140970000-140975800	Strong transcription	Brain Germinal Matrix	brain
18	chr9:140970200-140972800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr9:140970400-140973200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr9:140970600-140977400	Strong transcription	Fetal Brain Female	brain
21	chr9:140971400-140972600	Weak transcription	Gastric	stomach
22	chr9:140972200-140975600	Weak transcription	Pancreas	Pancrea
23	chr9:140972600-140972800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
24	chr9:140972600-140972800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
25	chr9:140972600-140972800	Enhancers	Spleen	Spleen
26	chr9:140972600-140973200	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr9:140972600-140973200	Strong transcription	Brain Cingulate Gyrus	brain
28	chr9:140972800-140973800	Strong transcription	Brain Inferior Temporal Lobe	brain
29	chr9:140973000-140974600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr9:140973000-140977400	Weak transcription	Spleen	Spleen
31	chr9:140973200-140977400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr9:140973200-140977400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr9:140973400-140973800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
34	chr9:140973800-140977600	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr9:140973800-140980000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr9:140974600-140977200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr9:140975200-140976000	Strong transcription	Brain Angular Gyrus	brain
38	chr9:140975600-140977800	Strong transcription	Brain Anterior Caudate	brain
39	chr9:140975800-140977400	Weak transcription	Brain Germinal Matrix	brain
40	chr9:140976000-141000000	Weak transcription	Brain Angular Gyrus	brain
41	chr9:140977200-140977400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
42	chr9:140977200-140978000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr9:140977200-140978200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
44	chr9:140977400-140977800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
45	chr9:140977400-140977800	Strong transcription	Brain Germinal Matrix	brain
46	chr9:140977400-140978200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
47	chr9:140977400-140978400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
48	chr9:140977400-140978800	Strong transcription	Brain Cingulate Gyrus	brain
49	chr9:140977400-140979000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr9:140977400-140979000	ZNF genes & repeats	Spleen	Spleen

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