Variant report

Variant	nsv430133
Chromosome Location	chr10:19452640-19490727
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	BACH1	chr10:19457572-19457738	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chr10:19458718-19458920	HepG2	liver:	n/a	n/a
3	CEBPB	chr10:19455086-19455203	HepG2	liver:	n/a	chr10:19455162-19455173
4	CEBPB	chr10:19483831-19484090	HepG2	liver:	n/a	chr10:19483936-19483947
5	CEBPB	chr10:19481079-19481325	HepG2	liver:	n/a	chr10:19481196-19481207
6	CEBPB	chr10:19481040-19481301	IMR90	lung:	n/a	chr10:19481196-19481207
7	CHD2	chr10:19457614-19457815	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr10:19457631-19457786	Hela-S3	cervix:	n/a	chr10:19457699-19457708 chr10:19457698-19457711 chr10:19457693-19457711
9	CTCF	chr10:19457620-19457770	GM12874	blood:	n/a	chr10:19457699-19457708 chr10:19457698-19457711 chr10:19457693-19457711
10	CTCF	chr10:19457640-19457790	WERI-Rb-1	eye:	n/a	chr10:19457699-19457708 chr10:19457698-19457711 chr10:19457693-19457711
11	CTCF	chr10:19457660-19457810	HCM	heart:	n/a	chr10:19457699-19457708 chr10:19457698-19457711 chr10:19457693-19457711
12	CTCF	chr10:19457623-19457753	SK-N-SH_RA	brain:	n/a	chr10:19457699-19457708 chr10:19457698-19457711 chr10:19457693-19457711
13	CTCF	chr10:19457800-19457950	WI-38	lung:	n/a	n/a
14	CTCF	chr10:19457620-19457770	HRPEpiC	eye:	n/a	chr10:19457699-19457708 chr10:19457698-19457711 chr10:19457693-19457711
15	CTCF	chr10:19457623-19457776	SK-N-SH_RA	brain:	n/a	chr10:19457699-19457708 chr10:19457698-19457711 chr10:19457693-19457711
16	CTCF	chr10:19457620-19457770	NHEK	skin:	n/a	chr10:19457699-19457708 chr10:19457698-19457711 chr10:19457693-19457711
17	CTCF	chr10:19457521-19457842	H1-hESC	embryonic stem cell:	n/a	chr10:19457699-19457708 chr10:19457698-19457711 chr10:19457693-19457711
18	CTCF	chr10:19457620-19457770	GM12872	blood:	n/a	chr10:19457699-19457708 chr10:19457698-19457711 chr10:19457693-19457711
19	CTCF	chr10:19457600-19457750	SAEC	small airway:	n/a	chr10:19457699-19457708 chr10:19457698-19457711 chr10:19457693-19457711
20	CTCF	chr10:19457660-19457810	GM12866	blood:	n/a	chr10:19457699-19457708 chr10:19457698-19457711 chr10:19457693-19457711
21	CTCF	chr10:19457560-19457710	WERI-Rb-1	eye:	n/a	chr10:19457699-19457708
22	CTCF	chr10:19457640-19457790	SK-N-SH_RA	brain:	n/a	chr10:19457699-19457708 chr10:19457698-19457711 chr10:19457693-19457711
23	CTCF	chr10:19457620-19457770	RPTEC	kidney:	n/a	chr10:19457699-19457708 chr10:19457698-19457711 chr10:19457693-19457711
24	CTCF	chr10:19457960-19458110	AG04450	lung:	n/a	n/a
25	CTCF	chr10:19457573-19457875	IMR90	lung:	n/a	chr10:19457699-19457708 chr10:19457698-19457711 chr10:19457693-19457711
26	CTCF	chr10:19457605-19457829	Gliobla	brain:	n/a	chr10:19457699-19457708 chr10:19457698-19457711 chr10:19457693-19457711
27	CTCF	chr10:19457537-19457833	GM12878	blood:	n/a	chr10:19457699-19457708 chr10:19457698-19457711 chr10:19457693-19457711
28	CTCF	chr10:19457640-19457790	HMEC	breast:	n/a	chr10:19457699-19457708 chr10:19457698-19457711 chr10:19457693-19457711
29	CTCF	chr10:19457640-19457790	HEEpiC	esophagus:	n/a	chr10:19457699-19457708 chr10:19457698-19457711 chr10:19457693-19457711
30	CTCF	chr10:19465768-19465801	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr10:19457515-19457852	H1-hESC	embryonic stem cell:	n/a	chr10:19457699-19457708 chr10:19457698-19457711 chr10:19457693-19457711
32	CTCF	chr10:19457640-19457790	Hela-S3	cervix:	n/a	chr10:19457699-19457708 chr10:19457698-19457711 chr10:19457693-19457711
33	CTCF	chr10:19457840-19457990	RPTEC	kidney:	n/a	n/a
34	CTCF	chr10:19457691-19457741	LNCaP	prostate:	n/a	chr10:19457699-19457708 chr10:19457698-19457711 chr10:19457693-19457711
35	CTCF	chr10:19457655-19457733	GM12891	blood:	n/a	chr10:19457699-19457708 chr10:19457698-19457711 chr10:19457693-19457711
36	CTCF	chr10:19457592-19457813	H1-hESC	embryonic stem cell:	n/a	chr10:19457699-19457708 chr10:19457698-19457711 chr10:19457693-19457711
37	CTCF	chr10:19476550-19476679	Pancreas_OC	pancreas:	n/a	n/a
38	CTCF	chr10:19457640-19457790	HPF	lung:	n/a	chr10:19457699-19457708 chr10:19457698-19457711 chr10:19457693-19457711
39	CTCF	chr10:19457560-19457710	HRPEpiC	eye:	n/a	chr10:19457699-19457708
40	CTCF	chr10:19457600-19457750	SK-N-SH_RA	brain:	n/a	chr10:19457699-19457708 chr10:19457698-19457711 chr10:19457693-19457711
41	CTCF	chr10:19457634-19457777	A549	lung:	n/a	chr10:19457699-19457708 chr10:19457698-19457711 chr10:19457693-19457711
42	CTCF	chr10:19457620-19457770	BE2_C	brain:	n/a	chr10:19457699-19457708 chr10:19457698-19457711 chr10:19457693-19457711
43	CTCF	chr10:19457660-19457810	AG04450	lung:	n/a	chr10:19457699-19457708 chr10:19457698-19457711 chr10:19457693-19457711
44	CTCF	chr10:19457660-19457810	HepG2	liver:	n/a	chr10:19457699-19457708 chr10:19457698-19457711 chr10:19457693-19457711
45	CTCF	chr10:19458064-19458122	MCF-7	breast:	n/a	n/a
46	CTCF	chr10:19457560-19457710	HMF	breast:	n/a	chr10:19457699-19457708
47	CTCF	chr10:19457600-19457750	HPF	lung:	n/a	chr10:19457699-19457708 chr10:19457698-19457711 chr10:19457693-19457711
48	CTCF	chr10:19457580-19457730	HA-sp	spinal cord:	n/a	chr10:19457699-19457708 chr10:19457698-19457711 chr10:19457693-19457711
49	CTCF	chr10:19457640-19457790	HAc	cerebellar:	n/a	chr10:19457699-19457708 chr10:19457698-19457711 chr10:19457693-19457711
50	CTCF	chr10:19457587-19457819	MCF-7	breast:	n/a	chr10:19457699-19457708 chr10:19457698-19457711 chr10:19457693-19457711

No.	Distal block	Cell Line	Cell type
1	chr10:19466484..19467327-chr10:19521039..19521911,3	MCF-7	breast:
2	chr10:19466484..19467332-chr10:19521028..19521911,4	MCF-7	breast:
3	chr10:19082548..19083519-chr10:19457655..19458211,2	MCF-7	breast:
4	chr10:19458075..19458575-chr18:36304626..36305400,2	MCF-7	breast:

Variant related genes	Relation type
MALRD1	TF binding region

Extended variants
information (count: 1733 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:1733 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2358344	chr10:19452640-19452641	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs79448749	chr10:19452644-19452645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576116566	chr10:19452718-19452719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575744749	chr10:19452736-19452737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543596698	chr10:19452756-19452757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541239842	chr10:19452764-19452765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562090705	chr10:19452769-19452770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148819618	chr10:19452818-19452819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541433562	chr10:19452834-19452835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114981059	chr10:19452838-19452839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs72790787	chr10:19452869-19452870	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs551966427	chr10:19452878-19452879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563913228	chr10:19452892-19452893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145274499	chr10:19452947-19452948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548834863	chr10:19452968-19452969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567239478	chr10:19453055-19453056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73593848	chr10:19453068-19453069	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs546190847	chr10:19453071-19453072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs137934208	chr10:19453077-19453078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75003831	chr10:19453085-19453086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141383149	chr10:19453106-19453107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34572308	chr10:19453137-19453138	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs60970424	chr10:19453171-19453172	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs80278031	chr10:19453191-19453192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555546104	chr10:19453194-19453195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12358812	chr10:19453207-19453208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528060612	chr10:19453208-19453209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541023518	chr10:19453220-19453221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553415793	chr10:19453226-19453227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs138957249	chr10:19453235-19453236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs60811224	chr10:19453238-19453239	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs545762800	chr10:19453240-19453241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570975279	chr10:19453255-19453256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs61851298	chr10:19453280-19453281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs116916047	chr10:19453281-19453282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs560773891	chr10:19453315-19453316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546777180	chr10:19453318-19453319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs528198801	chr10:19453327-19453328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs115694771	chr10:19453375-19453376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530397750	chr10:19453434-19453435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs140945726	chr10:19453494-19453495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550493761	chr10:19453496-19453497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569146275	chr10:19453588-19453589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs74118812	chr10:19453589-19453590	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs568262872	chr10:19453591-19453592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs554754703	chr10:19453599-19453600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs567617490	chr10:19453624-19453625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs373633676	chr10:19453670-19453671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs181980444	chr10:19453687-19453688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534616023	chr10:19453690-19453691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:40)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
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
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16616336	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	22083797	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:19438400-19489000	Weak transcription	Fetal Intestine Small	intestine
2	chr10:19448800-19454600	Weak transcription	Fetal Intestine Large	intestine
3	chr10:19451000-19454600	Weak transcription	Duodenum Mucosa	Duodenum
4	chr10:19453200-19453800	Enhancers	NHEK	skin
5	chr10:19454600-19457600	Strong transcription	Duodenum Mucosa	Duodenum
6	chr10:19454600-19457600	Strong transcription	Fetal Intestine Large	intestine
7	chr10:19457600-19457800	Genic enhancers	Fetal Intestine Large	intestine
8	chr10:19457600-19475800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr10:19457800-19458200	Enhancers	Fetal Intestine Large	intestine
10	chr10:19458200-19465800	Weak transcription	Fetal Intestine Large	intestine
11	chr10:19465600-19465800	Enhancers	Pancreas	Pancrea
12	chr10:19465800-19468000	Enhancers	Fetal Intestine Large	intestine
13	chr10:19467000-19467400	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr10:19467400-19467600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr10:19467600-19467800	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr10:19467600-19468000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr10:19467800-19468000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr10:19468000-19468400	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr10:19468000-19475800	Weak transcription	Fetal Intestine Large	intestine
20	chr10:19473000-19473200	Enhancers	Fetal Lung	lung
21	chr10:19473800-19474600	Active TSS	Fetal Lung	lung
22	chr10:19474600-19474800	Enhancers	Fetal Lung	lung
23	chr10:19475800-19477600	Strong transcription	Fetal Intestine Large	intestine
24	chr10:19475800-19477800	Strong transcription	Duodenum Mucosa	Duodenum
25	chr10:19477600-19477800	ZNF genes & repeats	Fetal Intestine Large	intestine
26	chr10:19477800-19492200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr10:19481000-19481200	Enhancers	Fetal Intestine Large	intestine
28	chr10:19481200-19488400	Weak transcription	Fetal Intestine Large	intestine
29	chr10:19486400-19486800	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr10:19487600-19496800	Weak transcription	Small Intestine	intestine
31	chr10:19488400-19490000	Enhancers	Fetal Intestine Large	intestine
32	chr10:19488800-19489200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr10:19489000-19489600	Enhancers	Fetal Intestine Small	intestine
34	chr10:19489600-19493200	Weak transcription	Fetal Intestine Small	intestine
35	chr10:19490000-19492400	Weak transcription	Fetal Intestine Large	intestine

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