Variant report

Variant	esv3513804
Chromosome Location	chr10:45422810-45425594
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr10:45422631-45423079	HepG2	liver:	n/a	chr10:45422822-45422833
2	CEBPB	chr10:45422701-45422923	HepG2	liver:	n/a	chr10:45422822-45422833
3	CEBPB	chr10:45422676-45422897	Hela-S3	cervix:	n/a	chr10:45422822-45422833
4	CEBPB	chr10:45422640-45422985	IMR90	lung:	n/a	chr10:45422822-45422833
5	CEBPB	chr10:45422643-45423015	HepG2	liver:	n/a	chr10:45422822-45422833
6	CEBPB	chr10:45422676-45422951	K562	blood:	n/a	chr10:45422822-45422833
7	CTCF	chr10:45425315-45425378	Kidney_OC	kidney:	n/a	chr10:45425344-45425357 chr10:45425345-45425354
8	E2F4	chr10:45422732-45423031	MCF10A-Er-Src	breast:	n/a	n/a
9	EP300	chr10:45422695-45422893	HepG2	liver:	n/a	n/a
10	EP300	chr10:45422556-45423042	HepG2	liver:	n/a	n/a
11	ESR1	chr10:45422693-45423094	ECC-1	luminal epithelium:	n/a	n/a
12	ESR1	chr10:45422663-45423088	ECC-1	luminal epithelium:	n/a	n/a
13	ESR1	chr10:45422717-45423103	ECC-1	luminal epithelium:	n/a	n/a
14	ESR1	chr10:45422696-45423088	ECC-1	luminal epithelium:	n/a	n/a
15	ESR1	chr10:45425195-45425542	ECC-1	luminal epithelium:	n/a	n/a
16	FOS	chr10:45422734-45422923	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr10:45422707-45422955	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr10:45422708-45422927	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr10:45422686-45422974	MCF10A-Er-Src	breast:	n/a	n/a
20	HNF4A	chr10:45422641-45422975	HepG2	liver:	n/a	n/a
21	HNF4A	chr10:45422769-45423011	HepG2	liver:	n/a	n/a
22	HNF4G	chr10:45422657-45423015	HepG2	liver:	n/a	n/a
23	MAX	chr10:45423443-45423541	NB4	blood:	n/a	chr10:45423529-45423539
24	MAX	chr10:45425065-45425554	ECC-1	luminal epithelium:	n/a	n/a
25	MYC	chr10:45422681-45422968	MCF10A-Er-Src	breast:	n/a	n/a
26	NFIC	chr10:45425010-45425632	ECC-1	luminal epithelium:	n/a	n/a
27	NFIC	chr10:45425092-45425618	ECC-1	luminal epithelium:	n/a	n/a
28	RFX5	chr10:45422754-45423074	HepG2	liver:	n/a	n/a
29	STAT3	chr10:45422662-45422973	MCF10A-Er-Src	breast:	n/a	n/a
30	STAT3	chr10:45422663-45422968	MCF10A-Er-Src	breast:	n/a	n/a
31	STAT3	chr10:45422679-45422968	MCF10A-Er-Src	breast:	n/a	n/a
32	STAT3	chr10:45422646-45422979	MCF10A-Er-Src	breast:	n/a	n/a
33	STAT3	chr10:45422656-45422941	MCF10A-Er-Src	breast:	n/a	n/a
34	WRNIP1	chr10:45424528-45424575	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:45423081..45426439-chr10:45487238..45490931,4	K562	blood:
2	chr10:45419232..45422212-chr10:45424408..45426713,2	K562	blood:
3	chr10:45406644..45408622-chr10:45422950..45424971,2	K562	blood:
4	chr10:45424948..45427085-chr10:45472059..45474210,2	K562	blood:
5	chr10:45424948..45428447-chr10:45472059..45474990,3	K562	blood:

Variant related genes	Relation type
TMEM72	TF binding region
ENSG00000187783	chromatin interactions
ENSG00000165507	chromatin interactions

Extended variants
information (count: 121 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190589531	chr10:45422834-45422835	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs78502989	chr10:45422853-45422854	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs73277494	chr10:45422886-45422887	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs145403972	chr10:45422898-45422899	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs532341511	chr10:45422908-45422909	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs550538346	chr10:45422915-45422916	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs568943456	chr10:45422926-45422927	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs80347962	chr10:45422952-45422953	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs549053297	chr10:45422988-45422989	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs545228205	chr10:45422996-45422997	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs567407758	chr10:45422997-45422998	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs534527488	chr10:45423064-45423065	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs147696635	chr10:45423067-45423068	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs571387601	chr10:45423074-45423075	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs183512628	chr10:45423145-45423146	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs10900130	chr10:45423160-45423161	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs578016643	chr10:45423187-45423188	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs556959546	chr10:45423200-45423201	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs111933813	chr10:45423234-45423235	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs111433190	chr10:45423238-45423239	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs186363158	chr10:45423256-45423257	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs10900131	chr10:45423282-45423283	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs540500601	chr10:45423314-45423315	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs554084830	chr10:45423345-45423346	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs144636835	chr10:45423350-45423351	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs532437325	chr10:45423376-45423377	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs192164342	chr10:45423377-45423378	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs562496880	chr10:45423423-45423424	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs373791316	chr10:45423434-45423435	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs377658450	chr10:45423446-45423447	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs17157260	chr10:45423466-45423467	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs182629087	chr10:45423518-45423519	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs74585491	chr10:45423557-45423558	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs187708474	chr10:45423575-45423576	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs191192351	chr10:45423581-45423582	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs182514337	chr10:45423605-45423606	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs557093668	chr10:45423626-45423627	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs568864112	chr10:45423636-45423637	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs79065395	chr10:45423656-45423657	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs555224061	chr10:45423677-45423678	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs368566502	chr10:45423688-45423689	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs56344247	chr10:45423704-45423705	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs558686130	chr10:45423706-45423707	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs577027172	chr10:45423725-45423726	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs11239281	chr10:45423727-45423728	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs562684286	chr10:45423759-45423760	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs530090251	chr10:45423797-45423798	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs541885327	chr10:45423809-45423810	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs371844783	chr10:45423828-45423829	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs187489205	chr10:45423838-45423839	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
small cell lung cancer	20016488	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

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45410200-45430400	Weak transcription	Gastric	stomach
2	chr10:45413400-45428200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr10:45417000-45434000	Weak transcription	Fetal Brain Female	brain
4	chr10:45418800-45424800	Weak transcription	Colonic Mucosa	Colon
5	chr10:45420400-45428000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr10:45420400-45428200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr10:45421000-45423200	Weak transcription	Lung	lung
8	chr10:45421000-45427800	Weak transcription	Right Ventricle	heart
9	chr10:45421600-45428000	Weak transcription	Fetal Heart	heart
10	chr10:45421800-45425200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr10:45422200-45423000	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr10:45422200-45423200	Flanking Active TSS	HepG2	liver
13	chr10:45422200-45423400	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr10:45422200-45423600	Enhancers	Fetal Intestine Large	intestine
15	chr10:45422200-45423600	Enhancers	HSMMtube	muscle
16	chr10:45422400-45423200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr10:45422400-45423200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr10:45422400-45423200	Enhancers	Esophagus	oesophagus
19	chr10:45422400-45423400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr10:45422400-45423400	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr10:45422400-45423400	Enhancers	Duodenum Mucosa	Duodenum
22	chr10:45422400-45423400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr10:45422400-45423400	Enhancers	Pancreas	Pancrea
24	chr10:45422400-45423600	Enhancers	Fetal Intestine Small	intestine
25	chr10:45422400-45423600	Enhancers	Fetal Muscle Leg	muscle
26	chr10:45422600-45423200	Enhancers	Adipose Nuclei	Adipose
27	chr10:45422600-45427800	Weak transcription	Spleen	Spleen
28	chr10:45422800-45423000	Enhancers	Osteobl	bone
29	chr10:45422800-45423200	Enhancers	Fetal Thymus	thymus
30	chr10:45422800-45423200	Enhancers	Ovary	ovary
31	chr10:45422800-45423400	Enhancers	Liver	Liver
32	chr10:45422800-45423400	Enhancers	Fetal Muscle Trunk	muscle
33	chr10:45423000-45423400	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr10:45423000-45423400	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr10:45423000-45428200	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr10:45423200-45423400	Enhancers	Lung	lung
37	chr10:45423200-45423800	Enhancers	HepG2	liver
38	chr10:45423200-45427800	Weak transcription	Adipose Nuclei	Adipose
39	chr10:45423200-45428600	Weak transcription	Esophagus	oesophagus
40	chr10:45423400-45427800	Weak transcription	Pancreas	Pancrea
41	chr10:45423400-45427800	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr10:45423400-45428000	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr10:45423400-45428000	Weak transcription	Liver	Liver
44	chr10:45423400-45428000	Weak transcription	Lung	lung
45	chr10:45423400-45428000	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr10:45423600-45427600	Weak transcription	Fetal Muscle Leg	muscle
47	chr10:45423600-45428000	Weak transcription	Fetal Intestine Large	intestine
48	chr10:45424800-45425800	Enhancers	Colonic Mucosa	Colon
49	chr10:45425000-45425400	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr10:45425000-45425800	Enhancers	Rectal Mucosa Donor 31	rectum

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