Variant report

Variant	esv3435839
Chromosome Location	chr9:95565031-95568729
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr9:95566484-95566503	GM19239	blood:	n/a	n/a
2	CTCF	chr9:95566572-95566752	GM19239	blood:	n/a	n/a
3	CTCF	chr9:95568473-95568572	Lung_OC	lung:	n/a	n/a
4	CTCF	chr9:95566532-95566533	GM19239	blood:	n/a	n/a
5	CTCF	chr9:95566534-95566570	GM19239	blood:	n/a	n/a
6	CTCF	chr9:95566457-95566462	GM19239	blood:	n/a	n/a
7	FOXA1	chr9:95564724-95565160	HepG2	liver:	n/a	n/a
8	JUND	chr9:95564900-95565128	HepG2	liver:	n/a	n/a
9	MYC	chr9:95566974-95566986	HUVEC	blood vessel:	n/a	n/a
10	MYC	chr9:95566658-95566750	H1-hESC	embryonic stem cell:	n/a	n/a
11	MYC	chr9:95566938-95566953	HUVEC	blood vessel:	n/a	n/a
12	MYC	chr9:95566362-95566373	H1-hESC	embryonic stem cell:	n/a	n/a
13	MYC	chr9:95566387-95566505	H1-hESC	embryonic stem cell:	n/a	n/a
14	NR2C2	chr9:95566223-95567329	GM12878	blood:	n/a	n/a
15	POLR2A	chr9:95566233-95566702	HepG2	liver:	n/a	n/a
16	POLR2A	chr9:95567200-95567644	H1-neurons	neurons:	n/a	n/a
17	POLR2A	chr9:95567333-95567723	H1-neurons	neurons:	n/a	n/a
18	SP1	chr9:95564759-95565126	HepG2	liver:	n/a	n/a
19	SUZ12	chr9:95566152-95567327	H1-hESC	embryonic stem cell:	n/a	n/a
20	WRNIP1	chr9:95567230-95567333	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:95568714-95568764	MCF10A-Er-Src	breast:	n/a
2	chr9:95568714-95568764	GM19239	blood:	n/a
3	chr9:95568714-95568764	Hela-S3	cervix:	n/a
4	chr9:95568714-95568764	ProgFib	skin:	n/a
5	chr9:95568714-95568764	HCM	heart:	n/a
6	chr9:95568714-95568764	NH-A	brain:	n/a
7	chr9:95568714-95568764	HAEpiC	amniotic membrane:	n/a
8	chr9:95568714-95568764	U87	brain:	n/a
9	chr9:95568714-95568764	SAEC	small airway:	n/a
10	chr9:95568714-95568764	AG04449	skin:	fetal
11	chr9:95568714-95568764	IMR90	lung:	fetal
12	chr9:95568714-95568764	AoSMC	blood vessel:	n/a
13	chr9:95568714-95568764	GM06990	blood:	n/a
14	chr9:95568714-95568764	NHDF-neo	bronchial:	n/a
15	chr9:95568714-95568764	AG10803	skin:	n/a
16	chr9:95568714-95568764	LNCaP	prostate:	n/a
17	chr9:95568714-95568764	HRE	kidney:	n/a
18	chr9:95568714-95568764	MCF-7	breast:	n/a
19	chr9:95568714-95568764	AG04450	lung:	fetal
20	chr9:95568714-95568764	HEEpiC	esophagus:	n/a
21	chr9:95568714-95568764	HPAEpiC	pulmonary alveolar:	n/a
22	chr9:95568714-95568764	PFSK-1	brain:	n/a
23	chr9:95568714-95568764	HCPEpiC	choroid plexus:	n/a
24	chr9:95568714-95568764	T-47D	breast:	n/a
25	chr9:95568714-95568764	HUVEC	blood vessel:	n/a
26	chr9:95568714-95568764	GM12892	blood:	n/a
27	chr9:95568714-95568764	HL-60	blood:	n/a
28	chr9:95568714-95568764	H1-hESC	embryonic stem cell:	embryo
29	chr9:95568714-95568764	PANC-1	pancreas:	n/a
30	chr9:95568714-95568764	HRCEpiC	kidney:	n/a
31	chr9:95568714-95568764	GM12878	blood:	n/a
32	chr9:95568714-95568764	SK-N-SH_RA	brain:	n/a
33	chr9:95568714-95568764	HNPCEpiC	eye:	n/a
34	chr9:95568714-95568764	HCT-116	colon:	n/a
35	chr9:95568714-95568764	HEK293	kidney:	embryo
36	chr9:95568714-95568764	Caco-2	colon:	n/a
37	chr9:95568714-95568764	SKMC	muscle:	n/a
38	chr9:95568714-95568764	GM12891	blood:	n/a
39	chr9:95568714-95568764	PrEC	prostate:	n/a
40	chr9:95568714-95568764	HRPEpiC	eye:	n/a
41	chr9:95568714-95568764	Hepatocyte	liver:	n/a
42	chr9:95568714-95568764	CMK	blood:	n/a
43	chr9:95568714-95568764	SK-N-SH	brain:	n/a
44	chr9:95568714-95568764	NHBE	bronchial:	n/a
45	chr9:95568714-95568764	RPTEC	kidney:	n/a
46	chr9:95568714-95568764	BJ	skin:	n/a
47	chr9:95568714-95568764	ovcar-3	ovarian:	n/a
48	chr9:95568714-95568764	NB4	blood:	n/a
49	chr9:95568714-95568764	A549	lung:	n/a
50	chr9:95568714-95568764	AG09319	gingival:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr9:95563386..95565101-chr9:95567156..95569894,2	MCF-7	breast:
2	chr9:95563386..95565101-chr9:95567156..95569894,2	MCF-7	breast:
3	chr9:95432561..95435212-chr9:95564441..95567422,3	MCF-7	breast:

No data

Variant related genes	Relation type
ANKRD19P	TF binding region
ANKRD19P	CpG island

Extended variants
information (count: 139 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:139 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142132683	chr9:95565039-95565040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537860597	chr9:95565063-95565064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538759509	chr9:95565083-95565084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184738840	chr9:95565100-95565101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556576436	chr9:95565119-95565120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565573471	chr9:95565159-95565160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574885960	chr9:95565173-95565174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111428780	chr9:95565193-95565194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554220368	chr9:95565290-95565291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575627815	chr9:95565305-95565306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10992473	chr9:95565327-95565328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536041120	chr9:95565338-95565339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536687860	chr9:95565343-95565344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558213584	chr9:95565346-95565347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576555273	chr9:95565389-95565390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370255512	chr9:95565408-95565409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540432064	chr9:95565440-95565441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574988572	chr9:95565451-95565452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542508706	chr9:95565453-95565454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140136579	chr9:95565457-95565458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530913210	chr9:95565474-95565475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs61626318	chr9:95565509-95565510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181608758	chr9:95565570-95565571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183903016	chr9:95565588-95565589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528612948	chr9:95565666-95565667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561500629	chr9:95565714-95565715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547234123	chr9:95565726-95565727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374883743	chr9:95565797-95565798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145560452	chr9:95565841-95565842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188685877	chr9:95565858-95565859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147735545	chr9:95565862-95565863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10992474	chr9:95565979-95565980	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs10992475	chr9:95565998-95565999	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs142650692	chr9:95566051-95566052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374298425	chr9:95566094-95566095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112486714	chr9:95566118-95566119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111590599	chr9:95566143-95566144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10118572	chr9:95566176-95566177	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs145723037	chr9:95566190-95566191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs202100147	chr9:95566214-95566215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146609731	chr9:95566216-95566217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs199736088	chr9:95566217-95566218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200553436	chr9:95566221-95566222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs180862432	chr9:95566244-95566245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563951654	chr9:95566248-95566249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147686830	chr9:95566254-95566255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375010590	chr9:95566257-95566258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113949317	chr9:95566259-95566260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201446584	chr9:95566260-95566261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546186196	chr9:95566280-95566281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Melanoma	18172304	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
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Mental retardation	21693067	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
overgrowth syndrome	16570072	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95558600-95569600	Weak transcription	Right Atrium	heart
2	chr9:95565800-95566000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:95566400-95567000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:95566600-95566800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr9:95566600-95566800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr9:95566600-95567200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr9:95566600-95567200	Bivalent/Poised TSS	Fetal Kidney	kidney
8	chr9:95566600-95569600	Weak transcription	Pancreas	Pancrea
9	chr9:95566800-95567000	Bivalent Enhancer	HSMMtube	muscle
10	chr9:95566800-95567200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr9:95567000-95567600	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr9:95568200-95568400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell

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