Variant report

Variant	nsv975391
Chromosome Location	chr11:62910820-62917965
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:62917060-62917210	HepG2	liver:	n/a	n/a
2	CTCF	chr11:62917131-62917153	MCF-7	breast:	n/a	n/a
3	CTCF	chr11:62917109-62917117	MCF-7	breast:	n/a	n/a
4	CTCF	chr11:62917000-62917150	GM12873	blood:	n/a	n/a
5	CTCF	chr11:62917120-62917270	HEK293	kidney:	n/a	n/a
6	EP300	chr11:62912967-62913180	SK-N-SH_RA	brain:	n/a	chr11:62913099-62913108
7	FOS	chr11:62914020-62914548	HUVEC	blood vessel:	n/a	chr11:62914265-62914276
8	FOS	chr11:62912925-62913098	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr11:62912738-62913506	HUVEC	blood vessel:	n/a	n/a
10	FOS	chr11:62912934-62913121	MCF10A-Er-Src	breast:	n/a	n/a
11	GATA2	chr11:62912376-62913361	HUVEC	blood vessel:	n/a	chr11:62913069-62913079
12	GATA2	chr11:62914091-62914481	HUVEC	blood vessel:	n/a	n/a
13	GATA3	chr11:62912938-62913448	SK-N-SH	brain:	n/a	chr11:62913069-62913079
14	JUN	chr11:62912905-62913331	HUVEC	blood vessel:	n/a	n/a
15	JUN	chr11:62914098-62914450	HUVEC	blood vessel:	n/a	n/a
16	MAFK	chr11:62916262-62916287	H1-hESC	embryonic stem cell:	n/a	n/a
17	MYC	chr11:62911755-62911759	MCF10A-Er-Src	breast:	n/a	n/a
18	NFIC	chr11:62912804-62913336	SK-N-SH	brain:	n/a	n/a
19	POLR2A	chr11:62912887-62913285	SK-N-MC	brain:	n/a	n/a
20	POLR2A	chr11:62914397-62914485	HUVEC	blood vessel:	n/a	n/a
21	POLR2A	chr11:62912769-62913391	HUVEC	blood vessel:	n/a	n/a
22	POLR2A	chr11:62913141-62913189	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr11:62913925-62914615	HUVEC	blood vessel:	n/a	n/a
24	STAT3	chr11:62912932-62913087	MCF10A-Er-Src	breast:	n/a	n/a
25	STAT3	chr11:62912922-62913255	MCF10A-Er-Src	breast:	n/a	n/a
26	STAT3	chr11:62913033-62913108	MCF10A-Er-Src	breast:	n/a	n/a
27	TCF12	chr11:62912803-62913496	SK-N-SH	brain:	n/a	n/a
28	USF1	chr11:62911529-62911631	HepG2	liver:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:62911616-62911666	IMR90	lung:	fetal
2	chr11:62911616-62911666	Hepatocyte	liver:	n/a
3	chr11:62912823-62912873	HCPEpiC	choroid plexus:	n/a
4	chr11:62911616-62911666	HPAEpiC	pulmonary alveolar:	n/a
5	chr11:62912823-62912873	SK-N-SH_RA	brain:	n/a
6	chr11:62912823-62912873	HIPEpiC	eye:	n/a
7	chr11:62911616-62911666	RPTEC	kidney:	n/a
8	chr11:62911616-62911666	K562	blood:	n/a
9	chr11:62912823-62912873	LNCaP	prostate:	n/a
10	chr11:62912823-62912873	HCF	heart:	n/a
11	chr11:62912823-62912873	HRPEpiC	eye:	n/a
12	chr11:62911616-62911666	GM12891	blood:	n/a
13	chr11:62911616-62911666	GM12892	blood:	n/a
14	chr11:62912823-62912873	CMK	blood:	n/a
15	chr11:62911616-62911666	AG09319	gingival:	n/a
16	chr11:62911616-62911666	NB4	blood:	n/a
17	chr11:62912823-62912873	NHDF-neo	bronchial:	n/a
18	chr11:62911616-62911666	HAEpiC	amniotic membrane:	n/a
19	chr11:62912823-62912873	AG04450	lung:	fetal
20	chr11:62911616-62911666	BJ	skin:	n/a
21	chr11:62911616-62911666	AG10803	skin:	n/a
22	chr11:62912823-62912873	SK-N-SH	brain:	n/a
23	chr11:62911616-62911666	AG09309	skin:	n/a
24	chr11:62911616-62911666	SK-N-SH	brain:	n/a
25	chr11:62911616-62911666	HNPCEpiC	eye:	n/a
26	chr11:62911616-62911666	AG04449	skin:	fetal
27	chr11:62911616-62911666	HCF	heart:	n/a
28	chr11:62912823-62912873	HEEpiC	esophagus:	n/a
29	chr11:62912823-62912873	HAEpiC	amniotic membrane:	n/a
30	chr11:62911616-62911666	HCPEpiC	choroid plexus:	n/a
31	chr11:62911616-62911666	U87	brain:	n/a
32	chr11:62912823-62912873	RPTEC	kidney:	n/a
33	chr11:62912823-62912873	BJ	skin:	n/a
34	chr11:62911616-62911666	NT2-D1	testis:	n/a
35	chr11:62912823-62912873	HMEC	breast:	n/a
36	chr11:62912823-62912873	HCM	heart:	n/a
37	chr11:62912823-62912873	AG10803	skin:	n/a
38	chr11:62912823-62912873	GM12892	blood:	n/a
39	chr11:62911616-62911666	LNCaP	prostate:	n/a
40	chr11:62911616-62911666	H1-hESC	embryonic stem cell:	embryo
41	chr11:62912823-62912873	GM06990	blood:	n/a
42	chr11:62911616-62911666	HL-60	blood:	n/a
43	chr11:62912823-62912873	AG09319	gingival:	n/a
44	chr11:62912823-62912873	NHBE	bronchial:	n/a
45	chr11:62912823-62912873	GM12891	blood:	n/a
46	chr11:62912823-62912873	HRE	kidney:	n/a
47	chr11:62911616-62911666	HCM	heart:	n/a
48	chr11:62911616-62911666	GM06990	blood:	n/a
49	chr11:62911616-62911666	AoSMC	blood vessel:	n/a
50	chr11:62912823-62912873	AG09309	skin:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:62913836..62916578-chr11:62923107..62925108,2	MCF-7	breast:

No data

Variant related genes	Relation type
SLC22A24	TF binding region
SLC22A10	TF binding region
SLC22A24	CpG island
SLC22A10	CpG island

Extended variants
information (count: 168 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:168 , 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	rs142448045	chr11:62910826-62910827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs1939749	chr11:62910849-62910850	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs367945806	chr11:62910855-62910856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs150208099	chr11:62910858-62910859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs138722111	chr11:62910878-62910879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs148927545	chr11:62910885-62910886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs201635557	chr11:62910886-62910887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs116409312	chr11:62910891-62910892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs200025846	chr11:62910892-62910893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561816044	chr11:62910914-62910915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372581361	chr11:62910940-62910941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs527623049	chr11:62910971-62910972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543424386	chr11:62910974-62910975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs199795089	chr11:62910983-62910984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556942414	chr11:62910984-62910985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs377238314	chr11:62911036-62911037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs370028693	chr11:62911059-62911060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs1939748	chr11:62911079-62911080	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs189506041	chr11:62911087-62911088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375630330	chr11:62911109-62911110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs143841916	chr11:62911110-62911111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs148163521	chr11:62911120-62911121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs372890190	chr11:62911169-62911170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570874651	chr11:62911189-62911190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573452597	chr11:62911208-62911209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs76718173	chr11:62911224-62911225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs146130039	chr11:62911236-62911237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs370152610	chr11:62911251-62911252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs72922304	chr11:62911257-62911258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs73497597	chr11:62911268-62911269	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs565433495	chr11:62911270-62911271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs369789843	chr11:62911289-62911290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568137275	chr11:62911346-62911347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs373032245	chr11:62911417-62911418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537193521	chr11:62911458-62911459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115197051	chr11:62911483-62911484	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181149061	chr11:62911519-62911520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576731998	chr11:62911527-62911528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186856433	chr11:62911541-62911542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191644229	chr11:62911563-62911564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553221578	chr11:62911612-62911613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377321275	chr11:62911616-62911617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138934182	chr11:62911617-62911618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531020900	chr11:62911640-62911641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1939747	chr11:62911658-62911659	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs373614996	chr11:62911716-62911717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7947420	chr11:62911766-62911767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530159863	chr11:62911787-62911788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377448542	chr11:62911802-62911803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs181953117	chr11:62911815-62911816	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelofibrosis	22110671	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	21785460	CNVD
Breast cancer	20409316	CNVD
Spinal muscular atrophy	17160897	CNVD
Retinitis pigmentosa	17160897	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62910400-62911800	Weak transcription	HUVEC	blood vessel
2	chr11:62910800-62911400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr11:62910800-62912600	Enhancers	Fetal Intestine Large	intestine
4	chr11:62911200-62912800	Enhancers	Fetal Intestine Small	intestine
5	chr11:62911400-62914400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:62911800-62913200	Enhancers	HUVEC	blood vessel
7	chr11:62912400-62913400	Enhancers	Left Ventricle	heart
8	chr11:62912600-62913000	Enhancers	Adipose Nuclei	Adipose
9	chr11:62912600-62913600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr11:62913200-62913600	Flanking Active TSS	HUVEC	blood vessel
11	chr11:62913600-62915000	Enhancers	HUVEC	blood vessel

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links