Variant report

Variant	nsv895551
Chromosome Location	chr10:59272564-59363195
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	BHLHE40	chr10:59339767-59340312	HepG2	liver:	n/a	n/a
2	CEBPB	chr10:59278586-59278818	IMR90	lung:	n/a	chr10:59278696-59278707
3	CEBPB	chr10:59303659-59303782	HepG2	liver:	n/a	chr10:59303720-59303731
4	CEBPB	chr10:59287630-59287940	IMR90	lung:	n/a	chr10:59287784-59287795
5	CEBPB	chr10:59278581-59278781	K562	blood:	n/a	chr10:59278696-59278707
6	CEBPB	chr10:59333510-59333801	A549	lung:	n/a	chr10:59333689-59333698 chr10:59333689-59333698 chr10:59333687-59333698 chr10:59333687-59333700 chr10:59333689-59333698 chr10:59333688-59333699 chr10:59333596-59333609 chr10:59333689-59333698
7	CEBPB	chr10:59295180-59295356	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr10:59303700-59303728	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr10:59278559-59278828	A549	lung:	n/a	chr10:59278696-59278707
10	CEBPB	chr10:59333606-59333736	H1-hESC	embryonic stem cell:	n/a	chr10:59333689-59333698 chr10:59333689-59333698 chr10:59333687-59333698 chr10:59333687-59333700 chr10:59333689-59333698 chr10:59333688-59333699 chr10:59333689-59333698
11	CEBPB	chr10:59314773-59314991	HepG2	liver:	n/a	chr10:59314859-59314870
12	CEBPB	chr10:59278572-59278868	HepG2	liver:	n/a	chr10:59278696-59278707
13	CEBPB	chr10:59333509-59333824	IMR90	lung:	n/a	chr10:59333689-59333698 chr10:59333689-59333698 chr10:59333687-59333698 chr10:59333687-59333700 chr10:59333689-59333698 chr10:59333688-59333699 chr10:59333596-59333609 chr10:59333689-59333698
14	CEBPB	chr10:59333501-59333855	HepG2	liver:	n/a	chr10:59333689-59333698 chr10:59333689-59333698 chr10:59333687-59333698 chr10:59333687-59333700 chr10:59333689-59333698 chr10:59333688-59333699 chr10:59333596-59333609 chr10:59333689-59333698
15	CEBPB	chr10:59333509-59333854	K562	blood:	n/a	chr10:59333689-59333698 chr10:59333689-59333698 chr10:59333687-59333698 chr10:59333687-59333700 chr10:59333689-59333698 chr10:59333688-59333699 chr10:59333596-59333609 chr10:59333689-59333698
16	CEBPB	chr10:59287618-59287942	HepG2	liver:	n/a	chr10:59287784-59287795
17	CTCF	chr10:59339800-59339950	HMEC	breast:	n/a	n/a
18	CTCF	chr10:59339760-59339910	GM12864	blood:	n/a	n/a
19	CTCF	chr10:59339755-59339964	LNCaP	prostate:	n/a	n/a
20	CTCF	chr10:59339840-59339960	GM12891	blood:	n/a	n/a
21	CTCF	chr10:59339766-59339995	MCF-7	breast:	n/a	n/a
22	CTCF	chr10:59339780-59339930	GM12878	blood:	n/a	n/a
23	CTCF	chr10:59339776-59339998	Fibrobl	skin:	n/a	n/a
24	CTCF	chr10:59339824-59339957	GM12892	blood:	n/a	n/a
25	CTCF	chr10:59339800-59339950	HPF	lung:	n/a	n/a
26	CTCF	chr10:59339812-59339966	MCF-7	breast:	n/a	n/a
27	CTCF	chr10:59339799-59339982	GM19238	blood:	n/a	n/a
28	CTCF	chr10:59339780-59339930	GM12873	blood:	n/a	n/a
29	CTCF	chr10:59339740-59339890	HBMEC	blood vessel:	n/a	n/a
30	CTCF	chr10:59353840-59353990	HMF	breast:	n/a	chr10:59353908-59353929 chr10:59353913-59353931 chr10:59353914-59353930
31	CTCF	chr10:59339780-59339930	GM12868	blood:	n/a	n/a
32	CTCF	chr10:59339940-59340090	HFF-Myc	foreskin:	n/a	n/a
33	CTCF	chr10:59339780-59339930	GM12872	blood:	n/a	n/a
34	CTCF	chr10:59339689-59340082	GM12878	blood:	n/a	n/a
35	CTCF	chr10:59353837-59353970	LNCaP	prostate:	n/a	chr10:59353908-59353929 chr10:59353913-59353931 chr10:59353914-59353930
36	CTCF	chr10:59339800-59339950	HEEpiC	esophagus:	n/a	n/a
37	CTCF	chr10:59339649-59340062	HepG2	liver:	n/a	n/a
38	CTCF	chr10:59339640-59339790	HCT-116	colon:	n/a	n/a
39	CTCF	chr10:59339780-59339930	GM12865	blood:	n/a	n/a
40	CTCF	chr10:59273288-59273323	GM13977	blood:	n/a	n/a
41	CTCF	chr10:59339800-59339950	AG09319	gingival:	n/a	n/a
42	CTCF	chr10:59339780-59339930	NHEK	skin:	n/a	n/a
43	CTCF	chr10:59353817-59354014	Medullo	brain:	n/a	chr10:59353908-59353929 chr10:59353913-59353931 chr10:59353914-59353930
44	CTCF	chr10:59339860-59340010	GM06990	blood:	n/a	n/a
45	CTCF	chr10:59340789-59340905	MCF-7	breast:	n/a	n/a
46	CTCF	chr10:59339807-59339937	Spleen_OC	spleen:	n/a	n/a
47	CTCF	chr10:59339780-59339930	GM12871	blood:	n/a	n/a
48	CTCF	chr10:59339800-59339950	HCPEpiC	choroid plexus:	n/a	n/a
49	CTCF	chr10:59339647-59340044	A549	lung:	n/a	n/a
50	CTCF	chr10:59274600-59274750	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:59273221..59275068-chr10:59277123..59280013,2	MCF-7	breast:
2	chr10:59362467..59364719-chr10:59366088..59368086,2	K562	blood:
3	chr10:59339500..59340340-chr10:59912185..59913054,2	K562	blood:
4	chr10:59273221..59275068-chr10:59277123..59280013,2	MCF-7	breast:
5	chr10:59339470..59340339-chr10:59416624..59417445,2	MCF-7	breast:
6	chr10:59327868..59330079-chr10:59331955..59334534,2	MCF-7	breast:
7	chr10:59327868..59330079-chr10:59331955..59334534,2	MCF-7	breast:
8	chr10:59098466..59099424-chr10:59352866..59354001,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CISD1-6	chr10:59272917-59273185	NONHSAT013479

Variant related genes	Relation type
ENSG00000235810	TF binding region

Extended variants
information (count: 255 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:255 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10740709	chr10:59272564-59272565	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs553222774	chr10:59272588-59272589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548470295	chr10:59272593-59272594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190501442	chr10:59272610-59272611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182979499	chr10:59272650-59272651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs55659129	chr10:59272738-59272739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150821689	chr10:59272773-59272774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187606799	chr10:59272776-59272777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191405048	chr10:59272912-59272913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566672032	chr10:59272919-59272920	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs139231185	chr10:59272964-59272965	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs549480982	chr10:59272988-59272989	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs567536185	chr10:59272989-59272990	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs538283111	chr10:59272990-59272991	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs371370939	chr10:59272995-59272996	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs556891864	chr10:59273004-59273005	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs571922177	chr10:59273025-59273026	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs183162066	chr10:59273051-59273052	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs554046014	chr10:59273064-59273065	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs4935704	chr10:59273068-59273069	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs539939388	chr10:59273077-59273078	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs187705996	chr10:59273150-59273151	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs572960893	chr10:59273181-59273182	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs573301034	chr10:59273208-59273209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543760946	chr10:59273236-59273237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192320245	chr10:59273269-59273270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185563794	chr10:59273298-59273299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545307495	chr10:59273328-59273329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554483135	chr10:59273641-59273642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566135421	chr10:59273646-59273647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs574081332	chr10:59273661-59273662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs373710560	chr10:59273710-59273711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536900941	chr10:59273764-59273765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs12415100	chr10:59273765-59273766	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs145377807	chr10:59273793-59273794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs532363151	chr10:59322273-59322274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs547807110	chr10:59322285-59322286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566338820	chr10:59322302-59322303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs193015636	chr10:59322312-59322313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs372901199	chr10:59322333-59322334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs556181732	chr10:59322345-59322346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs375802682	chr10:59322356-59322357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs567375305	chr10:59322358-59322359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs370009501	chr10:59322413-59322414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547939445	chr10:59322420-59322421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs537988596	chr10:59322424-59322425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs556287766	chr10:59322426-59322427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs566076945	chr10:59322427-59322428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs75981648	chr10:59322444-59322445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs77763189	chr10:59322466-59322467	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
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
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
Obesity	21956041	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Mental retardation	17124404	CNVD
Epilepsy	20923578	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Glioblastoma multiforme	22286061	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD
small cell lung cancer	17426248	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:59268000-59273400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:59273600-59273800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:59322200-59322600	Enhancers	HMEC	breast
4	chr10:59334600-59336800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr10:59337600-59338200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr10:59341000-59341400	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr10:59341400-59342800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr10:59342800-59343000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
9	chr10:59343000-59343200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr10:59357200-59358200	Enhancers	Pancreatic Islets	Pancreatic Islet

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links