Variant report

Variant	nsv947596
Chromosome Location	chr10:22219973-22227016
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:43)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:43 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr10:22220584-22220846	K562	blood:	n/a	n/a
2	CBX3	chr10:22224322-22224670	K562	blood:	n/a	n/a
3	CBX3	chr10:22224310-22224882	K562	blood:	n/a	n/a
4	CEBPB	chr10:22221064-22221425	K562	blood:	n/a	n/a
5	E2F6	chr10:22222350-22222493	K562	blood:	n/a	n/a
6	FOS	chr10:22223267-22223607	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr10:22221195-22221295	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr10:22223264-22223609	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr10:22220840-22221321	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr10:22223263-22223620	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr10:22223338-22223599	HUVEC	blood vessel:	n/a	n/a
12	FOS	chr10:22223286-22223574	MCF10A-Er-Src	breast:	n/a	n/a
13	JUN	chr10:22224132-22224158	K562	blood:	n/a	n/a
14	KAP1	chr10:22224095-22225453	K562	blood:	n/a	n/a
15	MAFF	chr10:22221239-22221439	HepG2	liver:	n/a	chr10:22221332-22221350
16	MAFF	chr10:22221208-22221452	K562	blood:	n/a	chr10:22221332-22221350
17	MAFK	chr10:22221252-22221471	HepG2	liver:	n/a	chr10:22221333-22221348
18	MAFK	chr10:22221217-22221459	HepG2	liver:	n/a	chr10:22221333-22221348
19	MAFK	chr10:22223695-22223769	HepG2	liver:	n/a	n/a
20	MAX	chr10:22222311-22222461	H1-hESC	embryonic stem cell:	n/a	n/a
21	MAX	chr10:22222136-22222570	K562	blood:	n/a	n/a
22	MAZ	chr10:22223760-22223899	HepG2	liver:	n/a	n/a
23	MYC	chr10:22221338-22221416	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr10:22221153-22221228	MCF-7	breast:	n/a	n/a
25	POLR2A	chr10:22222181-22222191	MCF-7	breast:	n/a	n/a
26	POLR2A	chr10:22221052-22221219	A549	lung:	n/a	n/a
27	POLR2A	chr10:22226443-22226680	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr10:22222100-22222133	MCF-7	breast:	n/a	n/a
29	POLR2A	chr10:22221102-22221237	MCF-7	breast:	n/a	n/a
30	POLR2A	chr10:22221079-22221097	MCF-7	breast:	n/a	n/a
31	POLR2A	chr10:22222989-22223133	GM12878	blood:	n/a	n/a
32	POLR2A	chr10:22222162-22222174	MCF-7	breast:	n/a	n/a
33	SETDB1	chr10:22224227-22225393	U2OS	brain:	n/a	n/a
34	SETDB1	chr10:22220824-22221345	U2OS	brain:	n/a	n/a
35	SETDB1	chr10:22224177-22225261	K562	blood:	n/a	n/a
36	STAT3	chr10:22220704-22221050	MCF10A-Er-Src	breast:	n/a	n/a
37	STAT3	chr10:22223460-22223503	MCF10A-Er-Src	breast:	n/a	n/a
38	STAT3	chr10:22220861-22221279	MCF10A-Er-Src	breast:	n/a	n/a
39	STAT3	chr10:22220795-22221302	MCF10A-Er-Src	breast:	n/a	n/a
40	ZNF143	chr10:22224352-22224786	H1-hESC	embryonic stem cell:	n/a	n/a
41	ZNF263	chr10:22222139-22222450	HEK293-T-REx	kidney:	n/a	n/a
42	ZNF384	chr10:22220040-22220201	K562	blood:	n/a	n/a
43	ZNF384	chr10:22224634-22224742	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:22225011..22227035-chr10:22229245..22230801,2	K562	blood:
2	chr10:22210012..22211533-chr10:22217735..22220227,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MLLT10-3	chr10:22222072-22222367	NONHSAT011727

No data

Variant related genes	Relation type
RN7SKP37	TF binding region

Extended variants
information (count: 240 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:240 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190011431	chr10:22220047-22220048	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs150363826	chr10:22220116-22220117	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs542730484	chr10:22220236-22220237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181762115	chr10:22220279-22220280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528439411	chr10:22220293-22220294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574872402	chr10:22220330-22220331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138304045	chr10:22220332-22220333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs186047290	chr10:22220333-22220334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs74755833	chr10:22220375-22220376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551345112	chr10:22220378-22220379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554072856	chr10:22220383-22220384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572391422	chr10:22220403-22220404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530353400	chr10:22220427-22220428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191161462	chr10:22220482-22220483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371306200	chr10:22220484-22220485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs72797476	chr10:22220496-22220497	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs16921950	chr10:22220500-22220501	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs550969899	chr10:22220504-22220505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552789098	chr10:22220507-22220508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs570951272	chr10:22220519-22220520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs565034269	chr10:22220570-22220571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs554790437	chr10:22220603-22220604	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs536944734	chr10:22220617-22220618	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs371761716	chr10:22220620-22220621	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs556862344	chr10:22220621-22220622	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs201122364	chr10:22220657-22220658	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs181845517	chr10:22220664-22220665	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs536461302	chr10:22220740-22220741	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs553162356	chr10:22220752-22220753	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs573297754	chr10:22220800-22220801	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs576198092	chr10:22220801-22220802	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs186033813	chr10:22220859-22220860	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs565278969	chr10:22220909-22220910	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs139171455	chr10:22220929-22220930	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs575738783	chr10:22220941-22220942	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs565463291	chr10:22220968-22220969	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs71510913	chr10:22220986-22220987	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs190894428	chr10:22221003-22221004	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs530206470	chr10:22221077-22221078	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs547176521	chr10:22221124-22221125	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs369159530	chr10:22221177-22221178	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs35572694	chr10:22221179-22221180	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs116876274	chr10:22221233-22221234	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs111752792	chr10:22221244-22221245	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs551106996	chr10:22221302-22221303	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs570886114	chr10:22221314-22221315	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs536679290	chr10:22221375-22221376	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs550425453	chr10:22221384-22221385	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs567571229	chr10:22221424-22221425	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs536021581	chr10:22221441-22221442	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:42)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	21525872	CNVD
Prostate cancer	18632612	CNVD
Cancer	17699850	CNVD
Ovarian cancer	17699850	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:22179000-22224000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr10:22183400-22221000	Weak transcription	Left Ventricle	heart
3	chr10:22185000-22222000	Weak transcription	Right Ventricle	heart
4	chr10:22188800-22229200	Weak transcription	Aorta	Aorta
5	chr10:22193000-22224200	Weak transcription	Primary B cells from cord blood	blood
6	chr10:22196200-22223400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr10:22199600-22250800	Weak transcription	Pancreas	Pancrea
8	chr10:22203000-22221200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr10:22215200-22221000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr10:22215600-22228600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr10:22216800-22221200	Weak transcription	Hela-S3	cervix
12	chr10:22217000-22221800	Weak transcription	NHLF	lung
13	chr10:22217200-22222200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr10:22217200-22224800	Weak transcription	Placenta	Placenta
15	chr10:22217600-22221000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr10:22218000-22222400	Enhancers	K562	blood
17	chr10:22218200-22222600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr10:22218400-22222200	Weak transcription	Stomach Mucosa	stomach
19	chr10:22218400-22223400	Weak transcription	HMEC	breast
20	chr10:22218600-22223400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr10:22219000-22221600	Enhancers	Fetal Heart	heart
22	chr10:22219200-22222600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr10:22219200-22223400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr10:22219200-22225000	Weak transcription	Gastric	stomach
25	chr10:22221000-22221200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr10:22221000-22221600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr10:22221000-22222600	Enhancers	Left Ventricle	heart
28	chr10:22221200-22221400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr10:22221200-22221400	Enhancers	Thymus	Thymus
30	chr10:22221200-22221600	Enhancers	Hela-S3	cervix
31	chr10:22221600-22222000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr10:22222000-22222200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr10:22222000-22223800	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr10:22222000-22228800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr10:22222200-22222400	Enhancers	Right Ventricle	heart
36	chr10:22222200-22222400	Enhancers	Stomach Mucosa	stomach
37	chr10:22222200-22222600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr10:22222200-22224800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr10:22222400-22224200	Weak transcription	K562	blood
40	chr10:22222600-22223600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr10:22222600-22223800	Enhancers	Muscle Satellite Cultured Cells	--
42	chr10:22223200-22223600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr10:22223400-22223600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr10:22223400-22223800	Enhancers	HMEC	breast
45	chr10:22223400-22223800	Enhancers	NHEK	skin
46	chr10:22223400-22226400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
47	chr10:22223600-22224800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr10:22223800-22224000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr10:22223800-22224200	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr10:22223800-22224400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood

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