Variant report

Variant	nsv947907
Chromosome Location	chr10:45682432-45695000
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:427)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr10:45687632-45687651	K562	blood:	n/a	n/a
2	ARID3A	chr10:45689277-45689292	K562	blood:	n/a	n/a
3	ATF1	chr10:45686046-45686107	K562	blood:	n/a	n/a
4	CEBPB	chr10:45692771-45692783	HepG2	liver:	n/a	n/a
5	CTCF	chr10:45694517-45694613	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr10:45689913-45690029	Kidney_OC	kidney:	n/a	n/a
7	CTCF	chr10:45694614-45694621	H1-hESC	embryonic stem cell:	n/a	n/a
8	E2F6	chr10:45694060-45694736	K562	blood:	n/a	chr10:45694510-45694521 chr10:45694203-45694215 chr10:45694511-45694523
9	E2F6	chr10:45694133-45694296	K562	blood:	n/a	chr10:45694203-45694215
10	E2F6	chr10:45694424-45694578	K562	blood:	n/a	chr10:45694510-45694521 chr10:45694511-45694523
11	FOXA1	chr10:45685443-45685633	T-47D	breast:	n/a	n/a
12	FOXA1	chr10:45685434-45685651	T-47D	breast:	n/a	n/a
13	HMGN3	chr10:45693862-45694687	K562	blood:	n/a	n/a
14	IRF1	chr10:45689873-45690106	K562	blood:	n/a	n/a
15	JUN	chr10:45689424-45689594	K562	blood:	n/a	n/a
16	POLR2A	chr10:45687268-45687658	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr10:45687685-45687763	MCF10A-Er-Src	breast:	n/a	n/a
18	SPI1	chr10:45693165-45693374	GM12891	blood:	n/a	chr10:45693280-45693293 chr10:45693275-45693288 chr10:45693278-45693285
19	SPI1	chr10:45693184-45693397	K562	blood:	n/a	chr10:45693280-45693293 chr10:45693275-45693288 chr10:45693278-45693285
20	TBL1XR1	chr10:45689381-45689483	K562	blood:	n/a	n/a
21	TBL1XR1	chr10:45686243-45686249	K562	blood:	n/a	n/a
22	ZNF274	chr10:45688081-45688477	K562	blood:	n/a	n/a

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:45693967-45694017	HNPCEpiC	eye:	n/a
2	chr10:45690404-45690454	SK-N-MC	brain:	n/a
3	chr10:45694889-45694939	HPAEpiC	pulmonary alveolar:	n/a
4	chr10:45694301-45694351	AG04449	skin:	fetal
5	chr10:45694301-45694351	BE2_C	brain:	n/a
6	chr10:45694301-45694351	LNCaP	prostate:	n/a
7	chr10:45694889-45694939	AG04450	lung:	fetal
8	chr10:45693532-45693582	HRE	kidney:	n/a
9	chr10:45693865-45693915	Hepatocyte	liver:	n/a
10	chr10:45694301-45694351	SKMC	muscle:	n/a
11	chr10:45690404-45690454	NHBE	bronchial:	n/a
12	chr10:45694301-45694351	AG04450	lung:	fetal
13	chr10:45694889-45694939	ECC-1	luminal epithelium:	n/a
14	chr10:45694586-45694636	AG09319	gingival:	n/a
15	chr10:45694586-45694636	HL-60	blood:	n/a
16	chr10:45693967-45694017	PANC-1	pancreas:	n/a
17	chr10:45693532-45693582	ovcar-3	ovarian:	n/a
18	chr10:45693865-45693915	BJ	skin:	n/a
19	chr10:45694301-45694351	HCPEpiC	choroid plexus:	n/a
20	chr10:45690404-45690454	PFSK-1	brain:	n/a
21	chr10:45694889-45694939	Jurkat	blood:	n/a
22	chr10:45694586-45694636	GM06990	blood:	n/a
23	chr10:45694301-45694351	HAEpiC	amniotic membrane:	n/a
24	chr10:45693532-45693582	HMEC	breast:	n/a
25	chr10:45694586-45694636	BJ	skin:	n/a
26	chr10:45694301-45694351	CMK	blood:	n/a
27	chr10:45693967-45694017	ProgFib	skin:	n/a
28	chr10:45694301-45694351	HRE	kidney:	n/a
29	chr10:45694301-45694351	T-47D	breast:	n/a
30	chr10:45693532-45693582	SKMC	muscle:	n/a
31	chr10:45694586-45694636	AG04450	lung:	fetal
32	chr10:45693532-45693582	HCT-116	colon:	n/a
33	chr10:45690404-45690454	GM12891	blood:	n/a
34	chr10:45690404-45690454	HNPCEpiC	eye:	n/a
35	chr10:45690404-45690454	HUVEC	blood vessel:	n/a
36	chr10:45693532-45693582	PrEC	prostate:	n/a
37	chr10:45693865-45693915	GM06990	blood:	n/a
38	chr10:45693967-45694017	ovcar-3	ovarian:	n/a
39	chr10:45694889-45694939	MCF10A-Er-Src	breast:	n/a
40	chr10:45690404-45690454	GM12892	blood:	n/a
41	chr10:45694301-45694351	NB4	blood:	n/a
42	chr10:45694889-45694939	AG09319	gingival:	n/a
43	chr10:45693865-45693915	CMK	blood:	n/a
44	chr10:45693967-45694017	MCF10A-Er-Src	breast:	n/a
45	chr10:45694301-45694351	Caco-2	colon:	n/a
46	chr10:45694586-45694636	HCT-116	colon:	n/a
47	chr10:45693532-45693582	H1-hESC	embryonic stem cell:	embryo
48	chr10:45693532-45693582	AG04450	lung:	fetal
49	chr10:45690404-45690454	HCPEpiC	choroid plexus:	n/a
50	chr10:45694586-45694636	Jurkat	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:45682504..45685368-chr10:45687382..45689758,3	K562	blood:
2	chr10:45694876..45697222-chr10:45712781..45714947,2	MCF-7	breast:

No data

Variant related genes	Relation type
RNU6-1207P	TF binding region
RNU6-1207P	CpG island
ENSG00000207071	chromatin interactions

Extended variants
information (count: 154 )
Associated
traits (count: 61 )

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	rs577590691	chr10:45685537-45685538	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs138483583	chr10:45685561-45685562	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs111284147	chr10:45685565-45685566	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs557983196	chr10:45685576-45685577	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs576252561	chr10:45685589-45685590	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs543640768	chr10:45685598-45685599	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs561849314	chr10:45685601-45685602	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs114415392	chr10:45685605-45685606	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs183878425	chr10:45686051-45686052	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs568503921	chr10:45686080-45686081	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs2153331	chr10:45686104-45686105	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs577702544	chr10:45687273-45687274	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs150576737	chr10:45687294-45687295	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs554827143	chr10:45687301-45687302	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs555917536	chr10:45687348-45687349	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs374971868	chr10:45687349-45687350	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs542925857	chr10:45687378-45687379	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs575278121	chr10:45687383-45687384	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs190681667	chr10:45687405-45687406	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs528748161	chr10:45687411-45687412	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs544273614	chr10:45687422-45687423	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs540458392	chr10:45687438-45687439	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs565312797	chr10:45687573-45687574	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs532658850	chr10:45687760-45687761	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs7917831	chr10:45687820-45687821	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs569243259	chr10:45687868-45687869	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs530068672	chr10:45687926-45687927	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs532778265	chr10:45687971-45687972	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs567607934	chr10:45687980-45687981	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs117079335	chr10:45687996-45687997	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs553161756	chr10:45687997-45687998	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs111741758	chr10:45688013-45688014	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs7918108	chr10:45688030-45688031	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs556743250	chr10:45688067-45688068	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs142411275	chr10:45688098-45688099	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs542264928	chr10:45688153-45688154	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs142420449	chr10:45688282-45688283	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs554124713	chr10:45688332-45688333	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs113601745	chr10:45688400-45688401	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs182699333	chr10:45688444-45688445	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs540537440	chr10:45688466-45688467	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs569015184	chr10:45688513-45688514	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs149791456	chr10:45688537-45688538	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs532552156	chr10:45688545-45688546	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs377258094	chr10:45688571-45688572	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs75543010	chr10:45688593-45688594	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs147248050	chr10:45688594-45688595	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs56893462	chr10:45688596-45688597	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs544701647	chr10:45688681-45688682	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs561522453	chr10:45688700-45688701	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Glioblastoma multiforme	21138945	CNVD
Autism	19287141	CNVD
Intellectual disability	21948486	CNVD
Glioblastoma multiforme	21525872	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45693400-45693600	Enhancers	Spleen	Spleen
2	chr10:45693600-45694000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:45693600-45694200	Weak transcription	Spleen	Spleen
4	chr10:45694000-45694800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr10:45694000-45695000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr10:45694200-45694400	Bivalent Enhancer	Fetal Stomach	stomach
7	chr10:45694200-45694800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr10:45694200-45695000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr10:45694400-45694600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr10:45694400-45694600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr10:45694400-45694600	Enhancers	Fetal Heart	heart
12	chr10:45694400-45694800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
13	chr10:45694400-45694800	Enhancers	Placenta	Placenta
14	chr10:45694400-45694800	Enhancers	Pancreas	Pancrea
15	chr10:45694400-45694800	Bivalent Enhancer	Right Ventricle	heart
16	chr10:45694400-45695000	ZNF genes & repeats	Lung	lung
17	chr10:45694600-45694800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr10:45694600-45694800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
19	chr10:45694600-45694800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
20	chr10:45694600-45695000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr10:45694600-45695000	Enhancers	Esophagus	oesophagus
22	chr10:45694600-45695000	Enhancers	Gastric	stomach
23	chr10:45694800-45695000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr10:45694800-45695000	Enhancers	Spleen	Spleen
25	chr10:45694800-45695400	Enhancers	K562	blood
26	chr10:45695000-45701000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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