Variant report

Variant	nsv1051868
Chromosome Location	chr9:141012109-141091382
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:920)
CpG islands
(count:915)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:920 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

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	chr9:141020637-141020864	K562	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	chr9:141082701-141083207	GM12878	blood:	n/a	chr9:141082765-141082773
7	BATF	chr9:141050185-141050584	GM12878	blood:	n/a	n/a
8	BATF	chr9:141023409-141023594	GM12878	blood:	n/a	n/a
9	BATF	chr9:141054182-141054368	GM12878	blood:	n/a	n/a
10	BATF	chr9:141064102-141064298	GM12878	blood:	n/a	n/a
11	BCL11A	chr9:141023414-141023612	GM12878	blood:	n/a	n/a
12	BCL11A	chr9:141054141-141054402	GM12878	blood:	n/a	n/a
13	BCL11A	chr9:141067698-141067987	GM12878	blood:	n/a	n/a
14	BCL11A	chr9:141054194-141054361	GM12878	blood:	n/a	n/a
15	BHLHE40	chr9:141061417-141061666	HepG2	liver:	n/a	n/a
16	BHLHE40	chr9:141044398-141044667	HepG2	liver:	n/a	n/a
17	CBX3	chr9:141020180-141021846	K562	blood:	n/a	n/a
18	CBX3	chr9:141023337-141023724	K562	blood:	n/a	n/a
19	CBX3	chr9:141020423-141021627	K562	blood:	n/a	n/a
20	CBX3	chr9:141044327-141044724	K562	blood:	n/a	n/a
21	CBX3	chr9:141023334-141023686	K562	blood:	n/a	n/a
22	CBX3	chr9:141041994-141042355	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	chr9:141027620-141027978	K562	blood:	n/a	n/a
29	CEBPD	chr9:141088557-141088959	K562	blood:	n/a	n/a
30	CTCF	chr9:141020680-141020830	BE2_C	brain:	n/a	n/a
31	CTCF	chr9:141044380-141044530	RPTEC	kidney:	n/a	chr9:141044508-141044521 chr9:141044506-141044522 chr9:141044505-141044523
32	CTCF	chr9:141021914-141021999	GM12891	blood:	n/a	n/a
33	CTCF	chr9:141042064-141042250	GM19238	blood:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
34	CTCF	chr9:141026740-141026890	MCF-7	breast:	n/a	n/a
35	CTCF	chr9:141044396-141044697	GM10266	blood:	n/a	chr9:141044508-141044521 chr9:141044506-141044522 chr9:141044505-141044523
36	CTCF	chr9:141021951-141022099	GM10248	blood:	n/a	n/a
37	CTCF	chr9:141044620-141044770	Hela-S3	cervix:	n/a	n/a
38	CTCF	chr9:141073580-141073730	GM12867	blood:	n/a	chr9:141073602-141073615
39	CTCF	chr9:141044340-141044490	HBMEC	blood vessel:	n/a	n/a
40	CTCF	chr9:141042035-141042253	GM10248	blood:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
41	CTCF	chr9:141044920-141045070	NHLF	lung:	n/a	n/a
42	CTCF	chr9:141044340-141044490	HPAF	blood vessel:	n/a	n/a
43	CTCF	chr9:141042060-141042210	HMEC	breast:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
44	CTCF	chr9:141042160-141042310	GM12868	blood:	n/a	chr9:141042273-141042286
45	CTCF	chr9:141042100-141042250	BJ	skin:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
46	CTCF	chr9:141044600-141044750	A549	lung:	n/a	n/a
47	CTCF	chr9:141031680-141031830	WERI-Rb-1	eye:	n/a	chr9:141031781-141031799 chr9:141031783-141031804
48	CTCF	chr9:141042063-141042215	HUVEC	blood vessel:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
49	CTCF	chr9:141022278-141022319	GM19239	blood:	n/a	n/a
50	CTCF	chr9:141044359-141044803	MCF-7	breast:	n/a	chr9:141044508-141044521 chr9:141044506-141044522 chr9:141044505-141044523

(count:915 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:141067944-141067994	NHBE	bronchial:	n/a
2	chr9:141012312-141012362	GM12892	blood:	n/a
3	chr9:141042435-141042485	HPAEpiC	pulmonary alveolar:	n/a
4	chr9:141022253-141022303	T-47D	breast:	n/a
5	chr9:141017457-141017507	HMEC	breast:	n/a
6	chr9:141016367-141016417	HIPEpiC	eye:	n/a
7	chr9:141017457-141017507	SK-N-SH_RA	brain:	n/a
8	chr9:141012312-141012362	Caco-2	colon:	n/a
9	chr9:141016791-141016841	H1-hESC	embryonic stem cell:	embryo
10	chr9:141045017-141045067	ECC-1	luminal epithelium:	n/a
11	chr9:141013537-141013587	SK-N-MC	brain:	n/a
12	chr9:141016367-141016417	NB4	blood:	n/a
13	chr9:141016791-141016841	SAEC	small airway:	n/a
14	chr9:141069847-141069897	U87	brain:	n/a
15	chr9:141017457-141017507	U87	brain:	n/a
16	chr9:141022253-141022303	PFSK-1	brain:	n/a
17	chr9:141045017-141045067	HL-60	blood:	n/a
18	chr9:141013537-141013587	U87	brain:	n/a
19	chr9:141013537-141013587	HPAEpiC	pulmonary alveolar:	n/a
20	chr9:141042435-141042485	PrEC	prostate:	n/a
21	chr9:141012312-141012362	HUVEC	blood vessel:	n/a
22	chr9:141022253-141022303	HCPEpiC	choroid plexus:	n/a
23	chr9:141067944-141067994	HMEC	breast:	n/a
24	chr9:141042435-141042485	NH-A	brain:	n/a
25	chr9:141016367-141016417	NT2-D1	testis:	n/a
26	chr9:141014674-141014724	HAEpiC	amniotic membrane:	n/a
27	chr9:141016791-141016841	HEEpiC	esophagus:	n/a
28	chr9:141014674-141014724	GM19239	blood:	n/a
29	chr9:141069847-141069897	GM12878	blood:	n/a
30	chr9:141044509-141044559	HRPEpiC	eye:	n/a
31	chr9:141067944-141067994	SAEC	small airway:	n/a
32	chr9:141016791-141016841	U87	brain:	n/a
33	chr9:141042435-141042485	HCPEpiC	choroid plexus:	n/a
34	chr9:141069847-141069897	SKMC	muscle:	n/a
35	chr9:141016791-141016841	GM12878	blood:	n/a
36	chr9:141067944-141067994	HAEpiC	amniotic membrane:	n/a
37	chr9:141016791-141016841	ProgFib	skin:	n/a
38	chr9:141013112-141013162	GM19239	blood:	n/a
39	chr9:141044509-141044559	HCT-116	colon:	n/a
40	chr9:141022253-141022303	RPTEC	kidney:	n/a
41	chr9:141012312-141012362	MCF10A-Er-Src	breast:	n/a
42	chr9:141013112-141013162	U87	brain:	n/a
43	chr9:141067944-141067994	AG04449	skin:	fetal
44	chr9:141067944-141067994	U87	brain:	n/a
45	chr9:141044509-141044559	Jurkat	blood:	n/a
46	chr9:141042435-141042485	K562	blood:	n/a
47	chr9:141012312-141012362	NB4	blood:	n/a
48	chr9:141017457-141017507	HPAEpiC	pulmonary alveolar:	n/a
49	chr9:141013112-141013162	CMK	blood:	n/a
50	chr9:141017001-141017051	NHBE	bronchial:	n/a

(count:7 , 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	chr10:122225..122779-chr9:141041705..141042205,2	MCF-7	breast:
4	chr10:122219..122922-chr9:141042181..141042681,2	MCF-7	breast:
5	chr9:141011439..141013713-chr9:141015634..141018380,2	K562	blood:
6	chr1:811815..813428-chr9:141073371..141075327,2	K562	blood:
7	chr9:137024514..137025058-chr9:141013083..141013583,2	HCT-116	colon:

No data

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: 2915 )
Associated
traits (count: 19 )

Variant overlapped rSNPs/rCNVs (count:2915 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560342567	chr9:141012149-141012150	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573832162	chr9:141012207-141012208	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs75602501	chr9:141012212-141012213	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554708418	chr9:141012225-141012226	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369253368	chr9:141012232-141012233	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73577516	chr9:141012241-141012242	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs554320204	chr9:141012245-141012246	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541949408	chr9:141012252-141012253	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544879574	chr9:141012280-141012281	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565983278	chr9:141012313-141012314	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530752268	chr9:141012339-141012340	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200319737	chr9:141012350-141012351	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534424779	chr9:141012360-141012361	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200913308	chr9:141012364-141012365	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376071032	chr9:141012368-141012369	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201947905	chr9:141012369-141012370	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537657918	chr9:141012377-141012378	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200502807	chr9:141012399-141012400	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201614040	chr9:141012404-141012405	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544179006	chr9:141012412-141012413	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377467706	chr9:141012423-141012424	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199624982	chr9:141012433-141012434	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200316245	chr9:141012438-141012439	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201078501	chr9:141012464-141012465	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201295300	chr9:141012470-141012471	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374108001	chr9:141012471-141012472	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs367654677	chr9:141012472-141012473	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs199770929	chr9:141012478-141012479	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200598077	chr9:141012489-141012490	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201400398	chr9:141012495-141012496	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs199521680	chr9:141012496-141012497	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200850141	chr9:141012509-141012510	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs202026908	chr9:141012520-141012521	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375440327	chr9:141012529-141012530	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370725992	chr9:141012531-141012532	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542606528	chr9:141012542-141012543	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs199966485	chr9:141012545-141012546	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201136060	chr9:141012546-141012547	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529663330	chr9:141012550-141012551	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546255352	chr9:141012553-141012554	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201924600	chr9:141012564-141012565	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200105178	chr9:141012572-141012573	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113883213	chr9:141012573-141012574	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs202038329	chr9:141012574-141012575	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566239078	chr9:141012599-141012600	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527685372	chr9:141012616-141012617	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532525136	chr9:141012660-141012661	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552543869	chr9:141012668-141012669	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569527131	chr9:141012669-141012670	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538192719	chr9:141012678-141012679	Weak transcription ZNF genes & repeats 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:266 , 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	chr9:141000400-141016600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr9:141008800-141015600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr9:141009200-141017600	Strong transcription	Fetal Brain Female	brain
6	chr9:141009600-141012400	Strong transcription	Brain Cingulate Gyrus	brain
7	chr9:141009800-141016200	Weak transcription	Brain Anterior Caudate	brain
8	chr9:141010600-141013400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr9:141011000-141012600	Strong transcription	Brain Angular Gyrus	brain
10	chr9:141012000-141012800	Strong transcription	Brain Germinal Matrix	brain
11	chr9:141012000-141017600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr9:141012400-141015400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr9:141012600-141022200	Weak transcription	Brain Angular Gyrus	brain
14	chr9:141012800-141013200	Weak transcription	Brain Germinal Matrix	brain
15	chr9:141013000-141013200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr9:141013000-141018000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
17	chr9:141013200-141014000	ZNF genes & repeats	Brain Germinal Matrix	brain
18	chr9:141013200-141015800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr9:141013200-141016200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr9:141013400-141013600	Enhancers	Spleen	Spleen
21	chr9:141013400-141017600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr9:141013600-141014000	Weak transcription	Spleen	Spleen
23	chr9:141013800-141016200	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr9:141014000-141014200	Active TSS	Spleen	Spleen
25	chr9:141014000-141014400	Strong transcription	Brain Germinal Matrix	brain
26	chr9:141014400-141017000	ZNF genes & repeats	Brain Germinal Matrix	brain
27	chr9:141014800-141015200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr9:141015400-141016800	Strong transcription	Brain Cingulate Gyrus	brain
29	chr9:141015600-141017400	Strong transcription	Brain Inferior Temporal Lobe	brain
30	chr9:141015800-141016800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
31	chr9:141016200-141016800	Strong transcription	Pancreatic Islets	Pancreatic Islet
32	chr9:141016200-141017000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr9:141016200-141017400	Strong transcription	Brain Anterior Caudate	brain
34	chr9:141016200-141017800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
35	chr9:141016600-141017600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
36	chr9:141016800-141017800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr9:141016800-141018400	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr9:141016800-141019000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr9:141017400-141019000	Weak transcription	Brain Anterior Caudate	brain
40	chr9:141017400-141019000	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr9:141017600-141019200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr9:141017600-141019400	Weak transcription	Fetal Brain Female	brain
43	chr9:141019000-141020800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
44	chr9:141020600-141020800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr9:141022600-141023400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr9:141022600-141023400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr9:141023400-141023800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
48	chr9:141023400-141023800	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr9:141023400-141024000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr9:141023400-141024000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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