Variant report

Variant	nsv523373
Chromosome Location	chr11:18382911-18401531
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:15)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:8)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:18390732..18392479-chr11:18415393..18418299,2	MCF-7	breast:
2	chr11:18389829..18393207-chr11:18415267..18417660,3	K562	blood:
3	chr11:18339570..18341563-chr11:18389035..18391001,2	K562	blood:
4	chr11:18385990..18389914-chr11:18403284..18406325,4	K562	blood:
5	chr11:18400049..18401686-chr11:18404314..18405882,2	K562	blood:
6	chr11:18398568..18400836-chr11:18427462..18430326,2	MCF-7	breast:
7	chr11:18393586..18398285-chr11:18414518..18419763,6	K562	blood:
8	chr11:18401037..18403856-chr11:18413417..18417997,5	K562	blood:
9	chr11:18396368..18398704-chr11:18415798..18418891,3	K562	blood:
10	chr11:18401460..18405154-chr11:18406672..18408749,3	K562	blood:
11	chr11:18386676..18389671-chr11:18414694..18418996,3	MCF-7	breast:
12	chr11:18386073..18387800-chr11:18389640..18392386,2	K562	blood:
13	chr11:18342186..18344992-chr11:18392996..18395179,2	K562	blood:
14	chr11:18386073..18387800-chr11:18389640..18392386,2	K562	blood:
15	chr11:18389913..18393253-chr11:18414767..18417568,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GTF2H1-1	chr11:18394180-18394431	NONHSAT018281
2	lnc-GTF2H1-2	chr11:18397373-18397741	NONHSAT018282

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	GTF2H1	hsa-miR-30a-5p	chr11:18387716-18387722
2	GTF2H1	hsa-miR-30a-5p	chr11:18387702-18387723
3	GTF2H1	hsa-miR-132-3p	chr11:18388368-18388389
4	GTF2H1	hsa-miR-15a-5p	chr11:18387744-18387765
5	GTF2H1	hsa-miR-16-5p	chr11:18387744-18387765
6	GTF2H1	hsa-miR-132-3p	chr11:18387699-18387720
7	GTF2H1	hsa-miR-132-3p	chr11:18387986-18388007
8	GTF2H1	hsa-miR-132-3p	chr11:18388382-18388389

Variant related genes	Relation type
ENSG00000110756	chromatin interactions
ENSG00000110768	chromatin interactions
ENSG00000134333	chromatin interactions

Extended variants
information (count: 825 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:825 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4150667	chr11:18382911-18382912	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs538406682	chr11:18382920-18382921	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148293292	chr11:18382923-18382924	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569105498	chr11:18382953-18382954	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141986144	chr11:18382956-18382957	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370982953	chr11:18382969-18382970	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4150668	chr11:18382971-18382972	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535578390	chr11:18383027-18383028	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376004179	chr11:18383037-18383038	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536173713	chr11:18383085-18383086	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs4150669	chr11:18383114-18383115	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs184335463	chr11:18383147-18383148	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4150670	chr11:18383148-18383149	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187224308	chr11:18383156-18383157	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558200504	chr11:18383188-18383189	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576181659	chr11:18383210-18383211	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543559212	chr11:18383278-18383279	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs150657100	chr11:18383294-18383295	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs4150671	chr11:18383309-18383310	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs4150672	chr11:18383310-18383311	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs559421975	chr11:18383366-18383367	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs113012369	chr11:18383382-18383383	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs551208635	chr11:18383383-18383384	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191740538	chr11:18383401-18383402	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557891064	chr11:18383409-18383410	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531820993	chr11:18383448-18383449	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs4150673	chr11:18383449-18383450	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs558614445	chr11:18383512-18383513	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs566753544	chr11:18383568-18383569	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs4150674	chr11:18383584-18383585	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535774735	chr11:18383590-18383591	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs547669381	chr11:18383593-18383594	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs183873596	chr11:18383601-18383602	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539421942	chr11:18383624-18383625	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs557976069	chr11:18383672-18383673	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs149898179	chr11:18383700-18383701	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs537143881	chr11:18383741-18383742	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs372893619	chr11:18383745-18383746	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs4150675	chr11:18383755-18383756	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs79511631	chr11:18383778-18383779	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs371249661	chr11:18383834-18383835	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs554505275	chr11:18383851-18383852	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs559658333	chr11:18383880-18383881	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs577715376	chr11:18383885-18383886	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs144963461	chr11:18383902-18383903	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs189320365	chr11:18383926-18383927	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs562960702	chr11:18383949-18383950	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs141944860	chr11:18383977-18383978	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs180864431	chr11:18384004-18384005	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs4150676	chr11:18384040-18384041	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Lung adenocarcinoma	17086460	CNVD
Urothelial cell carcinoma	18451213	CNVD
Lung cancer	17086460	CNVD
Uterine serous papillary cancer	19536090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:426 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18345000-18383200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:18345000-18405000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:18346800-18390400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:18347000-18387400	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr11:18351200-18387000	Weak transcription	Stomach Mucosa	stomach
6	chr11:18352400-18389000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:18354400-18389400	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr11:18357000-18389200	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr11:18361800-18391600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:18363000-18390200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:18363200-18393000	Weak transcription	Fetal Heart	heart
12	chr11:18367600-18390000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr11:18369600-18385800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr11:18372800-18387200	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr11:18373200-18386000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr11:18373200-18388200	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr11:18373200-18389200	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr11:18373200-18389200	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr11:18373200-18389200	Strong transcription	Duodenum Smooth Muscle	Duodenum
20	chr11:18373200-18390600	Strong transcription	Adipose Nuclei	Adipose
21	chr11:18373400-18385600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:18373400-18388200	Strong transcription	Skeletal Muscle Female	skeletal muscle
23	chr11:18373400-18389200	Strong transcription	Primary B cells from peripheral blood	blood
24	chr11:18373400-18390000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:18373400-18390400	Strong transcription	Dnd41	blood
26	chr11:18373600-18389200	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr11:18373600-18389800	Strong transcription	Liver	Liver
28	chr11:18373600-18389800	Strong transcription	Duodenum Mucosa	Duodenum
29	chr11:18373600-18390200	Strong transcription	Fetal Thymus	thymus
30	chr11:18373600-18390400	Strong transcription	Placenta	Placenta
31	chr11:18373600-18391200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr11:18373800-18384000	Strong transcription	Primary T cells from cord blood	blood
33	chr11:18373800-18387200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr11:18373800-18387600	Strong transcription	Ovary	ovary
35	chr11:18373800-18388000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr11:18373800-18389200	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr11:18373800-18389200	Strong transcription	Fetal Intestine Large	intestine
38	chr11:18373800-18389200	Strong transcription	Thymus	Thymus
39	chr11:18373800-18389400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr11:18373800-18389400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr11:18373800-18390400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr11:18374200-18386600	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr11:18374400-18388800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr11:18374400-18388800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr11:18374400-18389000	Strong transcription	Fetal Muscle Trunk	muscle
46	chr11:18374400-18389200	Strong transcription	Left Ventricle	heart
47	chr11:18374400-18389400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr11:18374400-18389400	Strong transcription	Fetal Intestine Small	intestine
49	chr11:18374600-18383200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr11:18374600-18383800	Strong transcription	Brain Germinal Matrix	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links