Variant report

Variant	nsv524020
Chromosome Location	chr11:76033374-76047793
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:3)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:76043018..76045901-chr19:30302750..30304650,2	K562	blood:
2	chr11:75924146..75926385-chr11:76032779..76035393,2	MCF-7	breast:
3	chr11:76039936..76041854-chr11:76155061..76156786,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRKRIR-2	chr11:76042358-76042665	l_519_chr11:76042357-76045315_whiteBloodCell
2	lnc-PRKRIR-2	chr11:76043194-76043247	l_519_chr11:76042357-76045315_whiteBloodCell
3	lnc-PRKRIR-2	chr11:76045141-76045315	l_519_chr11:76042357-76045315_whiteBloodCell

No data

Variant related genes	Relation type
ENSG00000105173	chromatin interactions
ENSG00000158636	chromatin interactions
ENSG00000255135	chromatin interactions

Extended variants
information (count: 529 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:529 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs750801	chr11:76033374-76033375	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs549226618	chr11:76033391-76033392	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs74318286	chr11:76033429-76033430	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189138083	chr11:76033449-76033450	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556542544	chr11:76033450-76033451	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551395306	chr11:76033477-76033478	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376471322	chr11:76033544-76033545	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs750802	chr11:76033573-76033574	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs555993401	chr11:76033672-76033673	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs576163403	chr11:76033673-76033674	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs535600930	chr11:76033738-76033739	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs555190611	chr11:76033740-76033741	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs140887670	chr11:76033794-76033795	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs540762110	chr11:76033816-76033817	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147024228	chr11:76033846-76033847	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577668494	chr11:76033847-76033848	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544137402	chr11:76033856-76033857	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563937699	chr11:76033896-76033897	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs78851462	chr11:76033907-76033908	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543235735	chr11:76033933-76033934	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559675157	chr11:76033955-76033956	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528625004	chr11:76033978-76033979	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551457055	chr11:76033984-76033985	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565137021	chr11:76034030-76034031	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181165243	chr11:76034084-76034085	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536712269	chr11:76034085-76034086	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530770585	chr11:76034143-76034144	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549677513	chr11:76034150-76034151	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569902805	chr11:76034192-76034193	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558076637	chr11:76034202-76034203	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs184277455	chr11:76034226-76034227	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs573335121	chr11:76034235-76034236	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs138342401	chr11:76034236-76034237	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs2004607	chr11:76034242-76034243	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs534713114	chr11:76034390-76034391	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs116902725	chr11:76034404-76034405	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs550649583	chr11:76034422-76034423	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs561129811	chr11:76034423-76034424	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs574099210	chr11:76034432-76034433	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs142424627	chr11:76034521-76034522	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs146626741	chr11:76034527-76034528	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs2213019	chr11:76034554-76034555	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs542941069	chr11:76034565-76034566	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs2851151	chr11:76034611-76034612	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs528630763	chr11:76034616-76034617	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs565849320	chr11:76034621-76034622	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs149397063	chr11:76034645-76034646	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs200384728	chr11:76034668-76034669	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs373106321	chr11:76034692-76034693	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs530832844	chr11:76034698-76034699	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:284 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76028800-76033400	Weak transcription	Hela-S3	cervix
2	chr11:76032200-76033400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
3	chr11:76032200-76033600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr11:76032200-76034200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
5	chr11:76032400-76033400	Active TSS	Pancreas	Pancrea
6	chr11:76032600-76033400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
7	chr11:76032600-76033400	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr11:76032600-76033600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
9	chr11:76032600-76033600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
10	chr11:76032600-76033600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr11:76032600-76033600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr11:76032600-76033600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr11:76032600-76033600	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
14	chr11:76032600-76033800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr11:76032600-76033800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
16	chr11:76032800-76033400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr11:76032800-76033400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
18	chr11:76032800-76033400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
19	chr11:76032800-76033400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr11:76032800-76033400	Bivalent Enhancer	Placenta	Placenta
21	chr11:76032800-76033400	Active TSS	Gastric	stomach
22	chr11:76032800-76033400	Enhancers	Spleen	Spleen
23	chr11:76032800-76033600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr11:76032800-76033600	Enhancers	Fetal Heart	heart
25	chr11:76032800-76033600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
26	chr11:76032800-76033600	Bivalent Enhancer	Fetal Thymus	thymus
27	chr11:76032800-76033600	Active TSS	Right Atrium	heart
28	chr11:76032800-76033600	Bivalent Enhancer	Stomach Mucosa	stomach
29	chr11:76032800-76033800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr11:76032800-76033800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr11:76032800-76033800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
32	chr11:76032800-76033800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
33	chr11:76032800-76034000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
34	chr11:76032800-76034200	Enhancers	Left Ventricle	heart
35	chr11:76033000-76033400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr11:76033000-76033400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr11:76033000-76033400	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr11:76033000-76033400	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr11:76033000-76033400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
40	chr11:76033000-76033400	Bivalent/Poised TSS	Fetal Brain Female	brain
41	chr11:76033000-76033400	Active TSS	Right Ventricle	heart
42	chr11:76033000-76033600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
43	chr11:76033000-76033800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr11:76033200-76033400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr11:76033200-76033400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr11:76033200-76033400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
47	chr11:76033200-76033400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
48	chr11:76033200-76033400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
49	chr11:76033200-76033400	Flanking Active TSS	Placenta Amnion	Placenta Amnion
50	chr11:76033200-76033400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links