Variant report

Variant	nsv969595
Chromosome Location	chr9:44119956-44126000
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:155)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:155 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr9:44125333-44125599	GM12878	blood:	n/a	n/a
2	BATF	chr9:44124132-44124352	GM12878	blood:	n/a	n/a
3	BATF	chr9:44124043-44124400	GM12878	blood:	n/a	n/a
4	BATF	chr9:44125369-44125590	GM12878	blood:	n/a	n/a
5	BCL11A	chr9:44123818-44124044	GM12878	blood:	n/a	n/a
6	BCL11A	chr9:44125199-44125586	GM12878	blood:	n/a	n/a
7	BCL11A	chr9:44123841-44124069	GM12878	blood:	n/a	n/a
8	BCL11A	chr9:44123178-44123377	GM12878	blood:	n/a	n/a
9	BCL11A	chr9:44125085-44125582	GM12878	blood:	n/a	n/a
10	CTCF	chr9:44122272-44122334	GM10266	blood:	n/a	n/a
11	EBF1	chr9:44125095-44125293	GM12878	blood:	n/a	n/a
12	EBF1	chr9:44125276-44125586	GM12878	blood:	n/a	n/a
13	EBF1	chr9:44119579-44120131	GM12878	blood:	n/a	n/a
14	EBF1	chr9:44125308-44125552	GM12878	blood:	n/a	n/a
15	EBF1	chr9:44124123-44124419	GM12878	blood:	n/a	n/a
16	EP300	chr9:44125128-44125291	GM12878	blood:	n/a	n/a
17	EP300	chr9:44125320-44125549	GM12878	blood:	n/a	n/a
18	EP300	chr9:44121957-44122190	GM12878	blood:	n/a	n/a
19	EP300	chr9:44123749-44124193	GM12878	blood:	n/a	n/a
20	EP300	chr9:44124818-44125656	GM12878	blood:	n/a	n/a
21	EP300	chr9:44124155-44124325	GM12878	blood:	n/a	n/a
22	EP300	chr9:44122634-44123489	GM12878	blood:	n/a	n/a
23	FOSL2	chr9:44123735-44124037	HepG2	liver:	n/a	n/a
24	FOSL2	chr9:44125037-44125478	HepG2	liver:	n/a	n/a
25	FOSL2	chr9:44122606-44122847	HepG2	liver:	n/a	n/a
26	FOSL2	chr9:44124955-44125640	HepG2	liver:	n/a	n/a
27	FOSL2	chr9:44123076-44123454	HepG2	liver:	n/a	n/a
28	GABPA	chr9:44123908-44124028	Hela-S3	cervix:	n/a	n/a
29	GABPA	chr9:44121574-44121797	Hela-S3	cervix:	n/a	n/a
30	GABPA	chr9:44125326-44125567	Hela-S3	cervix:	n/a	n/a
31	GABPA	chr9:44123187-44123322	Hela-S3	cervix:	n/a	n/a
32	GABPA	chr9:44125061-44125573	Hela-S3	cervix:	n/a	n/a
33	GABPA	chr9:44124128-44124446	Hela-S3	cervix:	n/a	n/a
34	GABPA	chr9:44125118-44125286	Hela-S3	cervix:	n/a	n/a
35	HEY1	chr9:44123143-44123376	K562	blood:	n/a	n/a
36	HEY1	chr9:44125145-44125595	K562	blood:	n/a	n/a
37	IRF4	chr9:44124063-44124364	GM12878	blood:	n/a	n/a
38	IRF4	chr9:44123723-44124028	GM12878	blood:	n/a	n/a
39	IRF4	chr9:44125035-44125573	GM12878	blood:	n/a	n/a
40	IRF4	chr9:44124032-44124375	GM12878	blood:	n/a	n/a
41	JUND	chr9:44125348-44125511	HepG2	liver:	n/a	n/a
42	JUND	chr9:44125140-44125566	HepG2	liver:	n/a	n/a
43	JUND	chr9:44123241-44123405	HepG2	liver:	n/a	n/a
44	JUND	chr9:44124152-44124340	HepG2	liver:	n/a	n/a
45	PAX5	chr9:44123743-44124108	GM12878	blood:	n/a	n/a
46	PAX5	chr9:44123075-44123358	GM12878	blood:	n/a	n/a
47	PAX5	chr9:44125099-44125574	GM12878	blood:	n/a	n/a
48	PAX5	chr9:44125320-44125474	GM12878	blood:	n/a	n/a
49	PAX5	chr9:44125168-44125587	GM12878	blood:	n/a	n/a
50	PAX5	chr9:44124883-44125710	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:44120147-44120197	PFSK-1	brain:	n/a
2	chr9:44120147-44120197	RPTEC	kidney:	n/a
3	chr9:44120147-44120197	NB4	blood:	n/a
4	chr9:44120147-44120197	Caco-2	colon:	n/a
5	chr9:44120147-44120197	AG09319	gingival:	n/a
6	chr9:44120147-44120197	HCM	heart:	n/a
7	chr9:44120147-44120197	HL-60	blood:	n/a
8	chr9:44120147-44120197	AG10803	skin:	n/a
9	chr9:44120147-44120197	AG04449	skin:	fetal
10	chr9:44120147-44120197	GM12892	blood:	n/a
11	chr9:44120147-44120197	ProgFib	skin:	n/a
12	chr9:44120147-44120197	HRCEpiC	kidney:	n/a
13	chr9:44120147-44120197	HRE	kidney:	n/a
14	chr9:44120147-44120197	MCF10A-Er-Src	breast:	n/a
15	chr9:44120147-44120197	HCT-116	colon:	n/a
16	chr9:44120147-44120197	LNCaP	prostate:	n/a
17	chr9:44120147-44120197	NH-A	brain:	n/a
18	chr9:44120147-44120197	GM12891	blood:	n/a
19	chr9:44120147-44120197	HPAEpiC	pulmonary alveolar:	n/a
20	chr9:44120147-44120197	CMK	blood:	n/a
21	chr9:44120147-44120197	AG04450	lung:	fetal
22	chr9:44120147-44120197	PANC-1	pancreas:	n/a
23	chr9:44120147-44120197	AG09309	skin:	n/a
24	chr9:44120147-44120197	SK-N-MC	brain:	n/a
25	chr9:44120147-44120197	GM12878	blood:	n/a
26	chr9:44120147-44120197	BE2_C	brain:	n/a
27	chr9:44120147-44120197	HepG2	liver:	n/a
28	chr9:44120147-44120197	GM06990	blood:	n/a
29	chr9:44120147-44120197	HRPEpiC	eye:	n/a
30	chr9:44120147-44120197	Hepatocyte	liver:	n/a
31	chr9:44120147-44120197	HCPEpiC	choroid plexus:	n/a
32	chr9:44120147-44120197	HMEC	breast:	n/a
33	chr9:44120147-44120197	A549	lung:	n/a
34	chr9:44120147-44120197	BJ	skin:	n/a
35	chr9:44120147-44120197	SAEC	small airway:	n/a
36	chr9:44120147-44120197	U87	brain:	n/a
37	chr9:44120147-44120197	SK-N-SH	brain:	n/a
38	chr9:44120147-44120197	IMR90	lung:	fetal
39	chr9:44120147-44120197	K562	blood:	n/a
40	chr9:44120147-44120197	HNPCEpiC	eye:	n/a
41	chr9:44120147-44120197	GM19239	blood:	n/a
42	chr9:44120147-44120197	H1-hESC	embryonic stem cell:	embryo
43	chr9:44120147-44120197	AoSMC	blood vessel:	n/a
44	chr9:44120147-44120197	HAEpiC	amniotic membrane:	n/a
45	chr9:44120147-44120197	ECC-1	luminal epithelium:	n/a
46	chr9:44120147-44120197	Jurkat	blood:	n/a
47	chr9:44120147-44120197	SKMC	muscle:	n/a
48	chr9:44120147-44120197	NHDF-neo	bronchial:	n/a
49	chr9:44120147-44120197	T-47D	breast:	n/a
50	chr9:44120147-44120197	HEK293	kidney:	embryo

No data

Variant related genes	Relation type
ANKRD20A7P	TF binding region
ANKRD20A7P	CpG island

Extended variants
information (count: 154 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:154 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571430628	chr9:44119957-44119958	Weak transcription Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs111601470	chr9:44119968-44119969	Weak transcription Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs551172197	chr9:44119969-44119970	Weak transcription Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs186739937	chr9:44119979-44119980	Weak transcription Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs113690209	chr9:44119984-44119985	Weak transcription Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs28449753	chr9:44120000-44120001	Weak transcription Active TSS Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs28542016	chr9:44120004-44120005	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs555677077	chr9:44120006-44120007	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs76498641	chr9:44120013-44120014	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs375398333	chr9:44120026-44120027	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs191126975	chr9:44120036-44120037	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs182991799	chr9:44120048-44120049	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs182110414	chr9:44120051-44120052	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs188131050	chr9:44120052-44120053	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs28582978	chr9:44120053-44120054	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
16	rs74937419	chr9:44120061-44120062	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs537977878	chr9:44120068-44120069	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs28394652	chr9:44120079-44120080	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs578137740	chr9:44120099-44120100	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs191350522	chr9:44120100-44120101	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs28474690	chr9:44120127-44120128	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs531573132	chr9:44120162-44120163	Weak transcription ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
23	rs28537071	chr9:44120178-44120179	Weak transcription ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
24	rs564990949	chr9:44120203-44120204	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs74827061	chr9:44120227-44120228	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs532477816	chr9:44120231-44120232	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs111906969	chr9:44120272-44120273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35779387	chr9:44120283-44120284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs202096913	chr9:44120284-44120285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183541109	chr9:44120287-44120288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373650213	chr9:44120328-44120329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566544019	chr9:44120341-44120342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574430196	chr9:44120349-44120350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374623584	chr9:44120350-44120351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113668783	chr9:44120384-44120385	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs28651802	chr9:44120405-44120406	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs111517752	chr9:44120407-44120408	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs112221576	chr9:44120409-44120410	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs567575565	chr9:44120414-44120415	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs191939542	chr9:44120425-44120426	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs556206572	chr9:44120467-44120468	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs370965259	chr9:44120484-44120485	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs202156589	chr9:44120509-44120510	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs200291854	chr9:44120521-44120522	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs200148937	chr9:44120543-44120544	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs368909468	chr9:44120544-44120545	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs571305720	chr9:44120549-44120550	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs28409530	chr9:44120576-44120577	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs374259655	chr9:44120583-44120584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147457331	chr9:44121591-44121592	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Oral cancer	21386901	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Sezary syndrome	18413736	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	21346763	CNVD
Breast cancer	21990379	CNVD
Astrocytoma	22246337	CNVD
Lung adenocarcinoma	17086460	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Lung cancer	17086460	CNVD
Rhabdomyosarcoma	16790082	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:44118000-44120000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr9:44118000-44120000	Active TSS	Fetal Brain Female	brain
3	chr9:44118800-44120000	Enhancers	Liver	Liver
4	chr9:44118800-44120000	Active TSS	Brain Cingulate Gyrus	brain
5	chr9:44119400-44120600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr9:44120000-44120200	ZNF genes & repeats	Fetal Brain Female	brain

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