Variant report

Variant	esv993873
Chromosome Location	chr11:75090965-75093952
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:75092274..75095773-chr11:75096854..75099923,3	K562	blood:
2	chr11:75092197..75094711-chr11:75109480..75112038,4	MCF-7	breast:
3	chr11:75062740..75066296-chr11:75093335..75097226,4	MCF-7	breast:
4	chr11:75087482..75089138-chr11:75092873..75094473,2	K562	blood:
5	chr11:75062379..75064704-chr11:75090478..75092323,2	MCF-7	breast:
6	chr11:75090369..75092612-chr11:75094388..75097255,4	MCF-7	breast:
7	chr11:75090671..75094563-chr11:75095690..75099742,4	K562	blood:
8	chr11:75039518..75040453-chr11:75093120..75094081,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000149273	chromatin interactions
ENSG00000206941	chromatin interactions
ENSG00000137486	chromatin interactions

Extended variants
information (count: 106 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78755361	chr11:75090972-75090973	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs77206565	chr11:75090973-75090974	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs574917	chr11:75090990-75090991	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs7123202	chr11:75091042-75091043	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs549463040	chr11:75091119-75091120	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs569942783	chr11:75091160-75091161	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs373806360	chr11:75091161-75091162	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs549427146	chr11:75091179-75091180	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs531003177	chr11:75091200-75091201	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs550895564	chr11:75091202-75091203	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs567809819	chr11:75091235-75091236	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs566334589	chr11:75091308-75091309	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs139677726	chr11:75091363-75091364	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs551709635	chr11:75091396-75091397	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs186135608	chr11:75091457-75091458	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs537586841	chr11:75091529-75091530	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs534730466	chr11:75091539-75091540	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs552914896	chr11:75091620-75091621	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs557477387	chr11:75091663-75091664	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs191813906	chr11:75091672-75091673	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs535619091	chr11:75091722-75091723	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs555380175	chr11:75091767-75091768	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs182400439	chr11:75091778-75091779	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs568225392	chr11:75091801-75091802	Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs535510709	chr11:75091845-75091846	Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs572265080	chr11:75091860-75091861	Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs546888367	chr11:75091926-75091927	Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs185847490	chr11:75091937-75091938	Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs117509803	chr11:75091955-75091956	Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs145267485	chr11:75091957-75091958	Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs114446200	chr11:75091958-75091959	Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs147641101	chr11:75091959-75091960	Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs529467413	chr11:75092062-75092063	Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs140640121	chr11:75092098-75092099	Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs559802130	chr11:75092121-75092122	Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs371889104	chr11:75092129-75092130	Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs542784	chr11:75092187-75092188	Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs551783127	chr11:75092188-75092189	Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs577030166	chr11:75092277-75092278	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs190640501	chr11:75092294-75092295	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs627133	chr11:75092335-75092336	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs551119410	chr11:75092345-75092346	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs567718700	chr11:75092358-75092359	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs559342664	chr11:75092445-75092446	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs555578861	chr11:75092455-75092456	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs572144283	chr11:75092474-75092475	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs377606931	chr11:75092480-75092481	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs142780623	chr11:75092488-75092489	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs577234022	chr11:75092498-75092499	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs542985221	chr11:75092500-75092501	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Melanoma	18172304	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21482786	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	16608533	CNVD

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75081200-75095200	Weak transcription	Dnd41	blood
2	chr11:75081400-75091800	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr11:75083600-75091000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:75083600-75094200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr11:75083800-75091800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:75083800-75092000	Weak transcription	Adipose Nuclei	Adipose
7	chr11:75083800-75099400	Weak transcription	Right Atrium	heart
8	chr11:75084000-75091600	Weak transcription	K562	blood
9	chr11:75084000-75091800	Weak transcription	Liver	Liver
10	chr11:75085000-75091200	Weak transcription	Stomach Mucosa	stomach
11	chr11:75085000-75091800	Weak transcription	Hela-S3	cervix
12	chr11:75087000-75091800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr11:75087400-75091600	Weak transcription	Gastric	stomach
14	chr11:75087400-75099400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:75087800-75091400	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr11:75087800-75091400	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr11:75087800-75091800	Weak transcription	Colonic Mucosa	Colon
18	chr11:75087800-75091800	Weak transcription	Spleen	Spleen
19	chr11:75088200-75091400	Weak transcription	A549	lung
20	chr11:75089800-75092400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:75089800-75092600	Enhancers	Fetal Intestine Large	intestine
22	chr11:75089800-75093000	Enhancers	Fetal Intestine Small	intestine
23	chr11:75090000-75091600	Enhancers	HepG2	liver
24	chr11:75090200-75092200	Enhancers	Fetal Stomach	stomach
25	chr11:75090200-75092400	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr11:75090200-75092800	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr11:75090400-75091800	Weak transcription	Lung	lung
28	chr11:75090400-75096000	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr11:75090800-75092200	Enhancers	Duodenum Mucosa	Duodenum
30	chr11:75090800-75092200	Enhancers	Stomach Smooth Muscle	stomach
31	chr11:75090800-75093000	Enhancers	Placenta	Placenta
32	chr11:75091000-75092000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr11:75091000-75092400	Enhancers	Fetal Heart	heart
34	chr11:75091000-75092400	Enhancers	Fetal Muscle Leg	muscle
35	chr11:75091200-75093000	Enhancers	Stomach Mucosa	stomach
36	chr11:75091400-75092200	Enhancers	HSMM	muscle
37	chr11:75091400-75092400	Enhancers	Placenta Amnion	Placenta Amnion
38	chr11:75091400-75092400	Enhancers	A549	lung
39	chr11:75091400-75094200	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr11:75091400-75096000	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr11:75091600-75091800	Flanking Active TSS	HepG2	liver
42	chr11:75091600-75092000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:75091600-75092000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr11:75091600-75092000	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr11:75091600-75092000	Enhancers	Gastric	stomach
46	chr11:75091600-75092200	Enhancers	HSMMtube	muscle
47	chr11:75091600-75092400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr11:75091600-75092400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr11:75091600-75092400	Enhancers	Primary hematopoietic stem cells	blood
50	chr11:75091600-75092400	Enhancers	Sigmoid Colon	Sigmoid Colon

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