Variant report

Variant	esv3373250
Chromosome Location	chr9:140610421-140610886
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	BACH1	chr9:140610803-140610830	K562	blood:	n/a	n/a
2	BATF	chr9:140610458-140611042	GM12878	blood:	n/a	n/a
3	BATF	chr9:140610468-140611052	GM12878	blood:	n/a	n/a
4	BCL11A	chr9:140610384-140611091	GM12878	blood:	n/a	n/a
5	BCL11A	chr9:140610385-140611128	GM12878	blood:	n/a	n/a
6	BHLHE40	chr9:140610467-140611054	HepG2	liver:	n/a	n/a
7	BRCA1	chr9:140610638-140610691	Hela-S3	cervix:	n/a	n/a
8	CBX3	chr9:140610334-140611181	K562	blood:	n/a	n/a
9	CBX3	chr9:140610397-140611092	K562	blood:	n/a	n/a
10	CEBPB	chr9:140610498-140611040	GM12878	blood:	n/a	n/a
11	CEBPB	chr9:140610445-140611185	GM12878	blood:	n/a	n/a
12	CEBPD	chr9:140610462-140611106	K562	blood:	n/a	n/a
13	CHD2	chr9:140610816-140610819	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr9:140610522-140611144	K562	blood:	n/a	n/a
15	CTCF	chr9:140610719-140610898	GM12892	blood:	n/a	n/a
16	CTCF	chr9:140610760-140610910	HEK293	kidney:	n/a	n/a
17	CTCF	chr9:140610740-140610890	K562	blood:	n/a	n/a
18	CTCF	chr9:140610612-140610634	LNCaP	prostate:	n/a	n/a
19	CTCF	chr9:140610740-140610890	AG09309	skin:	n/a	n/a
20	CTCF	chr9:140610592-140610604	LNCaP	prostate:	n/a	n/a
21	CTCF	chr9:140610801-140610842	Kidney_OC	kidney:	n/a	n/a
22	CTCF	chr9:140610519-140611025	K562	blood:	n/a	n/a
23	CTCF	chr9:140610710-140610889	GM19239	blood:	n/a	n/a
24	CTCF	chr9:140610583-140610661	Spleen_OC	spleen:	n/a	n/a
25	CTCF	chr9:140610720-140610870	RPTEC	kidney:	n/a	n/a
26	CTCF	chr9:140610494-140610600	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr9:140610822-140610863	LNCaP	prostate:	n/a	n/a
28	CTCF	chr9:140610795-140610874	GM12891	blood:	n/a	n/a
29	CTCF	chr9:140610494-140610588	GM19239	blood:	n/a	n/a
30	CTCF	chr9:140610784-140610840	H1-hESC	embryonic stem cell:	n/a	n/a
31	EBF1	chr9:140610435-140611165	GM12878	blood:	n/a	n/a
32	EBF1	chr9:140610464-140611095	GM12878	blood:	n/a	n/a
33	EGR1	chr9:140610745-140610851	GM12878	blood:	n/a	chr9:140610796-140610810 chr9:140610822-140610836 chr9:140610767-140610781
34	EGR1	chr9:140610742-140610856	GM12878	blood:	n/a	chr9:140610796-140610810 chr9:140610822-140610836 chr9:140610767-140610781
35	EGR1	chr9:140610732-140610863	K562	blood:	n/a	chr9:140610796-140610810 chr9:140610822-140610836 chr9:140610767-140610781
36	EGR1	chr9:140610410-140611121	GM12878	blood:	n/a	chr9:140610796-140610810 chr9:140610822-140610836 chr9:140610767-140610781
37	EGR1	chr9:140610377-140610586	K562	blood:	n/a	n/a
38	ELF1	chr9:140610684-140611093	GM12878	blood:	n/a	n/a
39	ELF1	chr9:140610714-140610991	K562	blood:	n/a	n/a
40	EP300	chr9:140610428-140611106	GM12878	blood:	n/a	n/a
41	EP300	chr9:140610364-140611111	GM12878	blood:	n/a	n/a
42	FOSL2	chr9:140610441-140611058	HepG2	liver:	n/a	n/a
43	FOSL2	chr9:140610426-140611195	HepG2	liver:	n/a	n/a
44	FOXA1	chr9:140610440-140611136	HepG2	liver:	n/a	n/a
45	FOXM1	chr9:140610335-140611062	GM12878	blood:	n/a	n/a
46	FOXP2	chr9:140610425-140611051	PFSK-1	brain:	n/a	n/a
47	GABPA	chr9:140610459-140611027	Hela-S3	cervix:	n/a	n/a
48	GABPA	chr9:140610389-140611177	Hela-S3	cervix:	n/a	n/a
49	GABPA	chr9:140610484-140611043	GM12878	blood:	n/a	n/a
50	GABPA	chr9:140610451-140611027	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:140571698..140574262-chr9:140609421..140611418,2	K562	blood:

Variant related genes	Relation type
EHMT1	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 20 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564977909	chr9:140610434-140610435	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs572800961	chr9:140610466-140610467	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs149268937	chr9:140610469-140610470	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs183793927	chr9:140610482-140610483	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs3123502	chr9:140610493-140610494	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs187493858	chr9:140610507-140610508	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs370506856	chr9:140610510-140610511	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs200033173	chr9:140610520-140610521	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs3123503	chr9:140610523-140610524	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs529972669	chr9:140610533-140610534	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs77694217	chr9:140610534-140610535	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs13300514	chr9:140610555-140610556	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs112708823	chr9:140610567-140610568	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs370863249	chr9:140610582-140610583	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs12003209	chr9:140610584-140610585	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs188470252	chr9:140610596-140610597	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs200757453	chr9:140610602-140610603	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs146768423	chr9:140610610-140610611	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs3125772	chr9:140610613-140610614	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs375000915	chr9:140610622-140610623	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs201369577	chr9:140610625-140610626	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs111724431	chr9:140610638-140610639	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs3125775	chr9:140610642-140610643	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs140235697	chr9:140610683-140610684	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs63749753	chr9:140610700-140610701	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs557734674	chr9:140610723-140610724	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs112136742	chr9:140610729-140610730	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs62590258	chr9:140610758-140610759	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs368689646	chr9:140610784-140610785	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs28532729	chr9:140610787-140610788	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs368515787	chr9:140610825-140610826	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs371002900	chr9:140610828-140610829	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs372910097	chr9:140610840-140610841	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs142045955	chr9:140610842-140610843	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs3125777	chr9:140610867-140610868	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs3125773	chr9:140610871-140610872	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs140997389	chr9:140610880-140610881	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs140266613	chr9:140610883-140610884	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:20)

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
Breast cancer	21509527	CNVD

Chromatin state (count:140 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:140573000-140638400	Weak transcription	Small Intestine	intestine
2	chr9:140597600-140611400	Weak transcription	Colonic Mucosa	Colon
3	chr9:140597600-140618000	Weak transcription	NH-A	brain
4	chr9:140598800-140649800	Weak transcription	Stomach Mucosa	stomach
5	chr9:140600400-140618200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr9:140601000-140612800	Weak transcription	Fetal Kidney	kidney
7	chr9:140602000-140611200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr9:140602000-140611400	Weak transcription	Brain Hippocampus Middle	brain
9	chr9:140602200-140611600	Weak transcription	Colon Smooth Muscle	Colon
10	chr9:140603200-140634000	Weak transcription	Fetal Heart	heart
11	chr9:140603800-140611200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr9:140604000-140634200	Weak transcription	Right Atrium	heart
13	chr9:140605800-140615400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr9:140606200-140613000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
15	chr9:140606400-140611200	Weak transcription	Brain Angular Gyrus	brain
16	chr9:140606800-140613000	Strong transcription	HSMM	muscle
17	chr9:140607000-140610600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr9:140607000-140610600	Weak transcription	Esophagus	oesophagus
19	chr9:140607000-140610600	Weak transcription	Right Ventricle	heart
20	chr9:140607000-140610800	Weak transcription	Brain Germinal Matrix	brain
21	chr9:140607000-140611000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr9:140607000-140611000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr9:140607000-140611000	Weak transcription	Aorta	Aorta
24	chr9:140607000-140611000	Weak transcription	Brain Anterior Caudate	brain
25	chr9:140607000-140611000	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr9:140607000-140611000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr9:140607000-140611200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr9:140607000-140611200	Weak transcription	Ovary	ovary
29	chr9:140607000-140612200	Weak transcription	HepG2	liver
30	chr9:140607200-140611200	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr9:140607600-140611000	Weak transcription	Brain Substantia Nigra	brain
32	chr9:140607600-140619200	Weak transcription	HSMMtube	muscle
33	chr9:140608200-140613000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr9:140608200-140617000	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr9:140608400-140611000	ZNF genes & repeats	Dnd41	blood
36	chr9:140608400-140611200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr9:140608400-140611400	ZNF genes & repeats	GM12878-XiMat	blood
38	chr9:140608400-140612000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr9:140608400-140612200	Strong transcription	Osteobl	bone
40	chr9:140608400-140612800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
41	chr9:140608400-140612800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
42	chr9:140608400-140613000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
43	chr9:140608400-140613000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr9:140608400-140613400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr9:140608400-140615400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr9:140608600-140611000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr9:140608600-140612600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
48	chr9:140608600-140613000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
49	chr9:140608600-140613200	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
50	chr9:140608600-140615600	Strong transcription	HUES64 Cell Line	embryonic stem cell

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