Variant report

Variant	nsv555447
Chromosome Location	chr11:75879823-75895749
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:75878808..75880535-chr11:75885544..75887523,2	K562	blood:
2	chr11:75877596..75879712-chr11:75888366..75889930,2	K562	blood:
3	chr11:75891012..75893171-chr11:75895940..75897806,2	K562	blood:
4	chr11:75888382..75891358-chr11:75893738..75896231,2	MCF-7	breast:
5	chr11:75874099..75876373-chr11:75881253..75883763,2	MCF-7	breast:
6	chr11:75879470..75881382-chr11:75903439..75906024,2	MCF-7	breast:
7	chr11:75895025..75897686-chr11:75910991..75913944,2	K562	blood:
8	chr11:75892849..75895480-chr11:75897932..75899434,2	K562	blood:
9	chr11:75526830..75528448-chr11:75885826..75888721,2	K562	blood:
10	chr11:75888382..75891358-chr11:75893738..75896231,2	MCF-7	breast:
11	chr11:75895372..75898295-chr11:75906346..75908229,2	K562	blood:
12	chr11:75886513..75888497-chr11:75907057..75909283,2	MCF-7	breast:
13	chr11:75872410..75875308-chr11:75879381..75883436,3	K562	blood:
14	chr11:75878808..75880535-chr11:75885544..75887523,2	K562	blood:
15	chr11:75887769..75890550-chr11:75903812..75906303,2	K562	blood:
16	chr11:75892849..75895759-chr11:75897789..75899434,2	K562	blood:
17	chr11:75881616..75884148-chr11:75897760..75900480,2	MCF-7	breast:
18	chr11:75886596..75888940-chr11:75889618..75892110,2	MCF-7	breast:
19	chr11:75886596..75888940-chr11:75889618..75892110,2	MCF-7	breast:

No data

Extended variants
information (count: 703 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:703 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10899172	chr11:75879823-75879824	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs368451525	chr11:75879851-75879852	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs556491234	chr11:75879909-75879910	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs573309405	chr11:75879923-75879924	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs140424696	chr11:75880023-75880024	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10899173	chr11:75880056-75880057	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs370185961	chr11:75880061-75880062	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536992463	chr11:75880071-75880072	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs202210179	chr11:75880269-75880270	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573364812	chr11:75880271-75880272	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545307019	chr11:75880294-75880295	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551939291	chr11:75880319-75880320	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559127765	chr11:75880326-75880327	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565372946	chr11:75880341-75880342	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs114713009	chr11:75880342-75880343	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551100962	chr11:75880347-75880348	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561228094	chr11:75880366-75880367	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145557831	chr11:75880367-75880368	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534390740	chr11:75880443-75880444	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs117311876	chr11:75880444-75880445	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs373050541	chr11:75880449-75880450	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543924669	chr11:75880469-75880470	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs551333134	chr11:75880476-75880477	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs148466473	chr11:75880490-75880491	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536706297	chr11:75880510-75880511	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs386755116	chr11:75880606-75880607	Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs644577	chr11:75880607-75880608	Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116833861	chr11:75880611-75880612	Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376708948	chr11:75880628-75880629	Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535444084	chr11:75880631-75880632	Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184786257	chr11:75880684-75880685	Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573501845	chr11:75880689-75880690	Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs137903665	chr11:75880693-75880694	Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545583298	chr11:75880740-75880741	Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112114162	chr11:75880767-75880768	Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557042415	chr11:75880787-75880788	Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs34197978	chr11:75880807-75880808	Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188045278	chr11:75880851-75880852	Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs68167014	chr11:75880862-75880863	Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs561393356	chr11:75880864-75880865	Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376048235	chr11:75880866-75880867	Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546716112	chr11:75880889-75880890	Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192667416	chr11:75880924-75880925	Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528327861	chr11:75880936-75880937	Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551663583	chr11:75880941-75880942	Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372797570	chr11:75880985-75880986	Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs117433112	chr11:75881008-75881009	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs571074075	chr11:75881059-75881060	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs542652203	chr11:75881081-75881082	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs76769213	chr11:75881094-75881095	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
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
Usher syndrome	18421352	CNVD
Breast cancer	21858162	CNVD
Ovarian cancer	21240255	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:153 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75873600-75882200	Weak transcription	Right Atrium	heart
2	chr11:75873800-75881600	Weak transcription	Pancreas	Pancrea
3	chr11:75876600-75880600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:75876600-75884400	Weak transcription	Esophagus	oesophagus
5	chr11:75877600-75880600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:75877600-75887200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr11:75878400-75881000	Enhancers	Placenta	Placenta
8	chr11:75878400-75882600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr11:75878600-75880200	Enhancers	Adipose Nuclei	Adipose
10	chr11:75879400-75880000	Enhancers	K562	blood
11	chr11:75879600-75881200	Enhancers	GM12878-XiMat	blood
12	chr11:75879800-75886600	Weak transcription	Fetal Muscle Leg	muscle
13	chr11:75880000-75880400	Bivalent Enhancer	HepG2	liver
14	chr11:75880000-75880600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:75880200-75881000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr11:75880400-75881000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:75880400-75881000	Flanking Bivalent TSS/Enh	HepG2	liver
18	chr11:75880600-75880800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
19	chr11:75880600-75881000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
20	chr11:75880600-75881000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr11:75880600-75881000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr11:75880600-75881200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr11:75880600-75881200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:75880600-75881800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
25	chr11:75880800-75881000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:75881000-75881200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr11:75881000-75881200	Bivalent/Poised TSS	HepG2	liver
28	chr11:75881000-75882600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr11:75881000-75887200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr11:75881600-75882200	Enhancers	Pancreas	Pancrea
31	chr11:75881600-75882400	Bivalent Enhancer	Fetal Stomach	stomach
32	chr11:75882400-75882600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr11:75882600-75883800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr11:75883000-75883800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr11:75883400-75883600	Enhancers	Fetal Intestine Small	intestine
36	chr11:75883400-75884000	Bivalent Enhancer	Fetal Stomach	stomach
37	chr11:75883600-75884200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr11:75883600-75897000	Weak transcription	Fetal Intestine Small	intestine
39	chr11:75884400-75884800	Enhancers	Esophagus	oesophagus
40	chr11:75884600-75885200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr11:75886000-75887000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
42	chr11:75886000-75887400	Bivalent Enhancer	Fetal Stomach	stomach
43	chr11:75886200-75887800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr11:75886400-75888000	Enhancers	HepG2	liver
45	chr11:75886600-75887000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
46	chr11:75886600-75888200	Enhancers	Fetal Muscle Leg	muscle
47	chr11:75886600-75888800	Enhancers	Fetal Lung	lung
48	chr11:75886800-75887200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr11:75886800-75887600	Enhancers	Placenta	Placenta
50	chr11:75887000-75887600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links