Variant report

Variant	esv12511
Chromosome Location	chr9:140982248-141153370
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1988)
CpG islands
(count:1282)
Chromatin interactive
region (count:14)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1988 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr9:141020692-141020855	GM12878	blood:	n/a	n/a
2	ATF3	chr9:141054176-141054450	A549	lung:	n/a	n/a
3	ATF3	chr9:141020689-141020889	GM12878	blood:	n/a	n/a
4	ATF3	chr9:141020637-141020864	K562	blood:	n/a	n/a
5	BATF	chr9:141112985-141113342	GM12878	blood:	n/a	n/a
6	BATF	chr9:141082701-141083207	GM12878	blood:	n/a	chr9:141082765-141082773
7	BATF	chr9:141050185-141050584	GM12878	blood:	n/a	n/a
8	BATF	chr9:141064102-141064298	GM12878	blood:	n/a	n/a
9	BATF	chr9:141054182-141054368	GM12878	blood:	n/a	n/a
10	BATF	chr9:141114113-141114462	GM12878	blood:	n/a	n/a
11	BATF	chr9:141023409-141023594	GM12878	blood:	n/a	n/a
12	BATF	chr9:141118240-141118564	GM12878	blood:	n/a	chr9:141118380-141118391
13	BATF	chr9:141020609-141020912	GM12878	blood:	n/a	n/a
14	BATF	chr9:141121222-141121626	GM12878	blood:	n/a	n/a
15	BATF	chr9:141115173-141115405	GM12878	blood:	n/a	n/a
16	BATF	chr9:141107515-141107806	GM12878	blood:	n/a	n/a
17	BATF	chr9:141113007-141113243	GM12878	blood:	n/a	n/a
18	BATF	chr9:141118278-141118550	GM12878	blood:	n/a	chr9:141118380-141118391
19	BATF	chr9:141107608-141107779	GM12878	blood:	n/a	n/a
20	BATF	chr9:141128455-141128723	GM12878	blood:	n/a	n/a
21	BATF	chr9:141128400-141128680	GM12878	blood:	n/a	n/a
22	BATF	chr9:141121304-141121639	GM12878	blood:	n/a	n/a
23	BCL11A	chr9:141129767-141129926	GM12878	blood:	n/a	n/a
24	BCL11A	chr9:141114024-141114388	GM12878	blood:	n/a	n/a
25	BCL11A	chr9:141126990-141127300	GM12878	blood:	n/a	n/a
26	BCL11A	chr9:141118215-141118496	GM12878	blood:	n/a	n/a
27	BCL11A	chr9:141128328-141128725	GM12878	blood:	n/a	n/a
28	BCL11A	chr9:141054141-141054402	GM12878	blood:	n/a	n/a
29	BCL11A	chr9:141023414-141023612	GM12878	blood:	n/a	n/a
30	BCL11A	chr9:141128443-141128816	GM12878	blood:	n/a	n/a
31	BCL11A	chr9:141122785-141122963	GM12878	blood:	n/a	n/a
32	BCL11A	chr9:141121270-141121610	GM12878	blood:	n/a	n/a
33	BCL11A	chr9:141117472-141117648	GM12878	blood:	n/a	n/a
34	BCL11A	chr9:141115303-141115593	GM12878	blood:	n/a	n/a
35	BCL11A	chr9:141067698-141067987	GM12878	blood:	n/a	n/a
36	BCL11A	chr9:141115227-141115417	GM12878	blood:	n/a	n/a
37	BCL11A	chr9:141054194-141054361	GM12878	blood:	n/a	n/a
38	BCL11A	chr9:141121234-141121658	GM12878	blood:	n/a	n/a
39	BCL11A	chr9:141114056-141114418	GM12878	blood:	n/a	n/a
40	BCL3	chr9:140993643-140993893	GM12878	blood:	n/a	n/a
41	BHLHE40	chr9:141061417-141061666	HepG2	liver:	n/a	n/a
42	BHLHE40	chr9:141121159-141121509	HepG2	liver:	n/a	n/a
43	BHLHE40	chr9:141118206-141118545	HepG2	liver:	n/a	n/a
44	BHLHE40	chr9:140993839-140994191	K562	blood:	n/a	n/a
45	BHLHE40	chr9:141044398-141044667	HepG2	liver:	n/a	n/a
46	BHLHE40	chr9:140993888-140994157	HepG2	liver:	n/a	n/a
47	CBX3	chr9:141020180-141021846	K562	blood:	n/a	n/a
48	CBX3	chr9:141111198-141111891	K562	blood:	n/a	n/a
49	CBX3	chr9:141020423-141021627	K562	blood:	n/a	n/a
50	CBX3	chr9:141044327-141044724	K562	blood:	n/a	n/a

(count:1282 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:141007633-141007683	HAEpiC	amniotic membrane:	n/a
2	chr9:141007633-141007683	HAEpiC	amniotic membrane:	n/a
3	chr9:141042453-141042503	ovcar-3	ovarian:	n/a
4	chr9:141016367-141016417	SAEC	small airway:	n/a
5	chr9:141042435-141042485	BJ	skin:	n/a
6	chr9:141111141-141111191	HCM	heart:	n/a
7	chr9:141017001-141017051	U87	brain:	n/a
8	chr9:141016367-141016417	GM12892	blood:	n/a
9	chr9:141045017-141045067	SK-N-MC	brain:	n/a
10	chr9:141069847-141069897	HRE	kidney:	n/a
11	chr9:141017001-141017051	SK-N-SH	brain:	n/a
12	chr9:141042453-141042503	NB4	blood:	n/a
13	chr9:141017457-141017507	HepG2	liver:	n/a
14	chr9:141016791-141016841	PFSK-1	brain:	n/a
15	chr9:141044509-141044559	HepG2	liver:	n/a
16	chr9:141042435-141042485	NT2-D1	testis:	n/a
17	chr9:141016791-141016841	IMR90	lung:	fetal
18	chr9:141105974-141106024	Caco-2	colon:	n/a
19	chr9:141017457-141017507	SAEC	small airway:	n/a
20	chr9:141042453-141042503	Jurkat	blood:	n/a
21	chr9:141067944-141067994	GM19239	blood:	n/a
22	chr9:141017001-141017051	HPAEpiC	pulmonary alveolar:	n/a
23	chr9:141111141-141111191	U87	brain:	n/a
24	chr9:141044509-141044559	HEK293	kidney:	embryo
25	chr9:141014674-141014724	BE2_C	brain:	n/a
26	chr9:141042453-141042503	Hela-S3	cervix:	n/a
27	chr9:141022253-141022303	ovcar-3	ovarian:	n/a
28	chr9:141013537-141013587	SK-N-SH	brain:	n/a
29	chr9:141111396-141111446	HCM	heart:	n/a
30	chr9:141007633-141007683	AG09319	gingival:	n/a
31	chr9:141045017-141045067	T-47D	breast:	n/a
32	chr9:141105202-141105252	NB4	blood:	n/a
33	chr9:141109427-141109477	HAEpiC	amniotic membrane:	n/a
34	chr9:141067944-141067994	AoSMC	blood vessel:	n/a
35	chr9:141045017-141045067	GM12891	blood:	n/a
36	chr9:141014674-141014724	Caco-2	colon:	n/a
37	chr9:141105202-141105252	HepG2	liver:	n/a
38	chr9:141105202-141105252	HNPCEpiC	eye:	n/a
39	chr9:141109427-141109477	SK-N-SH	brain:	n/a
40	chr9:141007633-141007683	GM12892	blood:	n/a
41	chr9:141109427-141109477	HUVEC	blood vessel:	n/a
42	chr9:141111141-141111191	Caco-2	colon:	n/a
43	chr9:141012312-141012362	GM12878	blood:	n/a
44	chr9:141017001-141017051	SK-N-SH_RA	brain:	n/a
45	chr9:141105974-141106024	NHBE	bronchial:	n/a
46	chr9:141111396-141111446	GM06990	blood:	n/a
47	chr9:141014674-141014724	NB4	blood:	n/a
48	chr9:141017001-141017051	AG09309	skin:	n/a
49	chr9:141022253-141022303	HCF	heart:	n/a
50	chr9:141042435-141042485	NHDF-neo	bronchial:	n/a

(count:14 , 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	chr1:811815..813428-chr9:141073371..141075327,2	K562	blood:
4	chr9:141007252..141009770-chr9:141014340..141016354,2	MCF-7	breast:
5	chr9:140948638..140949637-chr9:141008065..141008656,3	MCF-7	breast:
6	chr9:137024514..137025058-chr9:141013083..141013583,2	HCT-116	colon:
7	chr9:141011439..141013713-chr9:141015634..141018380,2	K562	blood:
8	chr9:140955879..140956683-chr9:140995540..140996190,2	MCF-7	breast:
9	chr9:140955941..140956581-chr9:140995170..140996036,2	MCF-7	breast:
10	chr9:140991128..140993433-chr9:140998381..141000455,2	K562	blood:
11	chr9:140949053..140949565-chr9:140995304..140996092,3	MCF-7	breast:
12	chr10:122219..122922-chr9:141042181..141042681,2	MCF-7	breast:
13	chr10:122225..122779-chr9:141041705..141042205,2	MCF-7	breast:
14	chr9:140991128..140993433-chr9:140998381..141000455,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CACNA1B-1	chr9:141139721-141139830	XLOC_007621
2	lnc-CACNA1B-1	chr9:141141988-141142607	XLOC_007621

No data

Variant related genes	Relation type
ENSG00000237419	TF binding region
RNU6-785P	TF binding region
TUBBP5	TF binding region
ENSG00000229926	TF binding region
FAM157B	TF binding region
ENSG00000237419	CpG island
RNU6-785P	CpG island
TUBBP5	CpG island
ENSG00000229926	CpG island
FAM157B	CpG island
ENSG00000230368	chromatin interactions

Extended variants
information (count: 4733 )
Associated
traits (count: 19 )

Variant overlapped rSNPs/rCNVs (count:4733 , 50 per page) page: 1 2 3 4 5 6 7 ... 95

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181656631	chr9:140982355-140982356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs567325663	chr9:140982376-140982377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs117353312	chr9:140982383-140982384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs72769092	chr9:140982402-140982403	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs573134369	chr9:140982414-140982415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186710932	chr9:140982433-140982434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546417614	chr9:140982438-140982439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563140795	chr9:140982476-140982477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558581520	chr9:140982484-140982485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372568637	chr9:140982510-140982511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544306878	chr9:140982549-140982550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7859536	chr9:140982586-140982587	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs529769071	chr9:140982649-140982650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140867911	chr9:140982670-140982671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560526851	chr9:140982689-140982690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532664430	chr9:140982690-140982691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552493060	chr9:140982693-140982694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568896819	chr9:140982734-140982735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191055731	chr9:140982752-140982753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548313271	chr9:140982769-140982770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77080844	chr9:140982821-140982822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113778938	chr9:140982827-140982828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540092859	chr9:140982828-140982829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548692084	chr9:140982921-140982922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553084081	chr9:140982962-140982963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566716072	chr9:140982991-140982992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538923342	chr9:140983005-140983006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112277846	chr9:140983014-140983015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs36090038	chr9:140983031-140983032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558925471	chr9:140983036-140983037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs77085862	chr9:140983037-140983038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs71510866	chr9:140983039-140983040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544162869	chr9:140983098-140983099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368359787	chr9:140983124-140983125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370945784	chr9:140983125-140983126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs150144410	chr9:140983132-140983133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182278911	chr9:140983133-140983134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560305636	chr9:140983144-140983145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11137365	chr9:140983145-140983146	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs115034415	chr9:140983159-140983160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145543338	chr9:140983160-140983161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148862972	chr9:140983184-140983185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569637647	chr9:140983202-140983203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368928929	chr9:140983203-140983204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561939593	chr9:140983232-140983233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527779757	chr9:140983233-140983234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547612747	chr9:140983234-140983235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs71510867	chr9:140983236-140983237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113755908	chr9:140983261-140983262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566654383	chr9:140983272-140983273	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:405 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:140976000-141000000	Weak transcription	Brain Angular Gyrus	brain
2	chr9:140977800-140994200	Weak transcription	Brain Anterior Caudate	brain
3	chr9:140978800-140993800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr9:140981000-140990600	Weak transcription	Fetal Brain Female	brain
5	chr9:140981400-140991000	Weak transcription	Brain Germinal Matrix	brain
6	chr9:140985400-140986000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
7	chr9:140986000-140986800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr9:140986400-140986800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr9:140987000-140998200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr9:140988200-141044600	Weak transcription	Right Atrium	heart
11	chr9:140989600-140992400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr9:140989600-140993600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr9:140989600-141000000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr9:140990600-140991000	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr9:140990600-140991000	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr9:140990600-140993600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr9:140990600-140996400	Strong transcription	Fetal Brain Female	brain
18	chr9:140991000-140998400	Strong transcription	Brain Germinal Matrix	brain
19	chr9:140992400-140992800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr9:140992400-140993600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr9:140992800-140993600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr9:140993400-140993600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr9:140993400-140994200	Enhancers	Gastric	stomach
24	chr9:140993600-140994000	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr9:140993600-140994000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr9:140993600-140994200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr9:140993600-140994200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
28	chr9:140993600-140994200	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr9:140993600-140994200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr9:140993600-140994200	ZNF genes & repeats	Fetal Brain Male	brain
31	chr9:140993600-140994600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr9:140993600-140994600	Genic enhancers	Brain Inferior Temporal Lobe	brain
33	chr9:140993800-140994200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr9:140993800-140994400	Enhancers	Brain Cingulate Gyrus	brain
35	chr9:140994000-140994200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr9:140994000-140994600	Enhancers	Spleen	Spleen
37	chr9:140994000-140995400	ZNF genes & repeats	Fetal Stomach	stomach
38	chr9:140994000-140999800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr9:140994200-140994400	Enhancers	Fetal Brain Male	brain
40	chr9:140994200-140994600	Enhancers	Brain Anterior Caudate	brain
41	chr9:140994200-140995200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr9:140994200-140997200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr9:140994200-141013000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr9:140994400-140996200	Weak transcription	Brain Cingulate Gyrus	brain
45	chr9:140994600-140997200	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr9:140994600-141008400	Weak transcription	Brain Anterior Caudate	brain
47	chr9:140995200-140996000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr9:140996000-140999600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr9:140996400-140997200	Weak transcription	Fetal Brain Female	brain
50	chr9:140997000-140997600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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