Variant report

Variant	esv3483735
Chromosome Location	chr9:108476172-108479062
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr9:108476140-108476290	GM12878	blood:	n/a	n/a
2	POLR2A	chr9:108475942-108476329	K562	blood:	n/a	n/a
3	POLR2A	chr9:108476198-108476372	MCF-7	breast:	n/a	n/a
4	POLR2A	chr9:108476498-108476543	K562	blood:	n/a	n/a
5	POLR2A	chr9:108476354-108476486	K562	blood:	n/a	n/a
6	POLR2A	chr9:108476350-108476379	MCF-7	breast:	n/a	n/a
7	POLR2A	chr9:108476403-108476425	MCF-7	breast:	n/a	n/a
8	STAT3	chr9:108476809-108476968	MCF10A-Er-Src	breast:	n/a	n/a
9	ZNF263	chr9:108476019-108476744	HEK293-T-REx	kidney:	n/a	n/a
10	ZNF263	chr9:108475610-108476664	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:108474643..108476985-chr9:108479080..108480662,2	MCF-7	breast:
2	chr9:108471863..108473966-chr9:108475296..108477111,2	K562	blood:
3	chr9:108469613..108472169-chr9:108477924..108480274,2	K562	blood:

No data

Variant related genes	Relation type
TMEM38B	TF binding region
ENSG00000228366	TF binding region
ENSG00000228366	chromatin interactions

Extended variants
information (count: 93 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577872957	chr9:108476199-108476200	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs545297532	chr9:108476207-108476208	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs112581217	chr9:108476234-108476235	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs141531230	chr9:108476243-108476244	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs532306253	chr9:108476383-108476384	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs138019092	chr9:108476409-108476410	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs543487733	chr9:108476656-108476657	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs143378393	chr9:108476673-108476674	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs550518611	chr9:108476683-108476684	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs528877860	chr9:108476684-108476685	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs10978215	chr9:108476688-108476689	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs547118735	chr9:108476827-108476828	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs565689578	chr9:108476862-108476863	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs569119398	chr9:108476888-108476889	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs533216590	chr9:108476909-108476910	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs191546321	chr9:108476932-108476933	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs183104596	chr9:108476942-108476943	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs536885638	chr9:108476948-108476949	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs376674006	chr9:108476949-108476950	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs147137904	chr9:108476953-108476954	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs567703723	chr9:108477018-108477019	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs139488323	chr9:108477030-108477031	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs552900296	chr9:108477034-108477035	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs112338282	chr9:108477036-108477037	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs569203110	chr9:108477144-108477145	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545260844	chr9:108477178-108477179	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149318563	chr9:108477196-108477197	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575771247	chr9:108477238-108477239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34519165	chr9:108477278-108477279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542898182	chr9:108477287-108477288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561812210	chr9:108477293-108477294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373542975	chr9:108477338-108477339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549387830	chr9:108477394-108477395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115056329	chr9:108477482-108477483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559364925	chr9:108477509-108477510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192326783	chr9:108477513-108477514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567622938	chr9:108477604-108477605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551687413	chr9:108477640-108477641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182279661	chr9:108477657-108477658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530731850	chr9:108477762-108477763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548949479	chr9:108477803-108477804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188045355	chr9:108477806-108477807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573989229	chr9:108477815-108477816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539914575	chr9:108477833-108477834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534778344	chr9:108477835-108477836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535019129	chr9:108477875-108477876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111804431	chr9:108477912-108477913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538674215	chr9:108477981-108477982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536585370	chr9:108477982-108477983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192462744	chr9:108478016-108478017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Barrett''s adenocarcinoma	18663352	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:108457800-108476200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:108457800-108492200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr9:108458000-108479200	Weak transcription	Fetal Brain Male	brain
4	chr9:108458000-108497800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr9:108458200-108476400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr9:108458200-108478800	Weak transcription	Brain Hippocampus Middle	brain
7	chr9:108458200-108480800	Weak transcription	Brain Angular Gyrus	brain
8	chr9:108458200-108491400	Weak transcription	HSMMtube	muscle
9	chr9:108458200-108491600	Weak transcription	Brain Anterior Caudate	brain
10	chr9:108458200-108495400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr9:108458200-108497000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr9:108459200-108489400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr9:108463200-108478400	Weak transcription	Hela-S3	cervix
14	chr9:108463200-108496800	Weak transcription	HepG2	liver
15	chr9:108463400-108487600	Weak transcription	Primary B cells from cord blood	blood
16	chr9:108465000-108496600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr9:108465600-108476200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr9:108466200-108476200	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr9:108466800-108478400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr9:108469000-108476200	Weak transcription	Primary B cells from peripheral blood	blood
21	chr9:108469000-108485000	Weak transcription	Small Intestine	intestine
22	chr9:108469200-108478000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr9:108469800-108476400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr9:108470600-108497000	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr9:108470800-108487200	Weak transcription	Liver	Liver
26	chr9:108470800-108496000	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr9:108471000-108476400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr9:108471000-108495400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr9:108471200-108481600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr9:108471400-108477600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr9:108471400-108479200	Weak transcription	Esophagus	oesophagus
32	chr9:108472000-108476600	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr9:108472200-108476400	Weak transcription	Brain Substantia Nigra	brain
34	chr9:108473200-108476800	Weak transcription	Dnd41	blood
35	chr9:108473200-108478400	Weak transcription	K562	blood
36	chr9:108473200-108478800	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr9:108473200-108487200	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr9:108473200-108490800	Weak transcription	Fetal Lung	lung
39	chr9:108473200-108496400	Weak transcription	Primary T cells from cord blood	blood
40	chr9:108473200-108497200	Weak transcription	Duodenum Mucosa	Duodenum
41	chr9:108473200-108499800	Weak transcription	Gastric	stomach
42	chr9:108473400-108492200	Weak transcription	GM12878-XiMat	blood
43	chr9:108474000-108477000	Weak transcription	Right Atrium	heart
44	chr9:108474200-108476800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr9:108474600-108476200	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr9:108475000-108476200	Enhancers	Psoas Muscle	Psoas
47	chr9:108475000-108476200	Enhancers	Right Ventricle	heart
48	chr9:108475000-108476400	Enhancers	Left Ventricle	heart
49	chr9:108475000-108476600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr9:108475000-108477400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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