Variant report

Variant	rs11683975
Chromosome Location	chr2:20767970-20767971
allele	C/T
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	chr2:20767932..20773273-chr2:20783089..20788305,5	K562	blood:
2	chr2:20767266..20769028-chr2:20793726..20796533,2	K562	blood:
3	chr2:20767067..20768963-chr2:20770778..20773313,2	MCF-7	breast:
4	chr2:20765929..20768353-chr2:20769988..20771699,2	MCF-7	breast:
5	chr2:20645080..20652615-chr2:20762107..20769809,15	MCF-7	breast:
6	chr2:20767266..20769707-chr2:20793726..20796533,3	K562	blood:
7	chr2:20763374..20764943-chr2:20765798..20769722,3	K562	blood:
8	chr2:20762656..20765559-chr2:20766415..20769350,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000269976	Chromatin interaction
ENSG00000228950	Chromatin interaction
ENSG00000143878	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1809132	0.86[ASN][1000 genomes]
rs1809133	0.89[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833537	chr2:20630092-20826816	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv833548	chr2:20682073-20864078	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20751200-20768600	Weak transcription	Aorta	Aorta
2	chr2:20751600-20772600	Weak transcription	Brain Angular Gyrus	brain
3	chr2:20763600-20768600	Weak transcription	Fetal Brain Male	brain
4	chr2:20764000-20768000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:20764200-20768000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:20764200-20768000	Weak transcription	HMEC	breast
7	chr2:20764200-20768200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr2:20764200-20768200	Weak transcription	Osteobl	bone
9	chr2:20764200-20768400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:20764400-20778200	Enhancers	HepG2	liver
11	chr2:20764600-20768800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:20764600-20769000	Enhancers	Placenta	Placenta
13	chr2:20764600-20770200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:20764800-20771600	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr2:20765000-20770400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:20765000-20772000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:20765200-20768400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:20765400-20769400	Enhancers	Fetal Muscle Leg	muscle
19	chr2:20765600-20769600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:20765600-20780800	Enhancers	Adipose Nuclei	Adipose
21	chr2:20765800-20768200	Weak transcription	Spleen	Spleen
22	chr2:20765800-20768600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:20765800-20769000	Weak transcription	Colon Smooth Muscle	Colon
24	chr2:20765800-20773600	Weak transcription	Fetal Thymus	thymus
25	chr2:20765800-20786200	Enhancers	HUVEC	blood vessel
26	chr2:20766000-20768400	Weak transcription	NHLF	lung
27	chr2:20766000-20769400	Weak transcription	Fetal Intestine Large	intestine
28	chr2:20766000-20772600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr2:20766000-20773600	Weak transcription	Fetal Kidney	kidney
30	chr2:20766200-20768000	Weak transcription	NHDF-Ad	bronchial
31	chr2:20766200-20768400	Weak transcription	Brain Hippocampus Middle	brain
32	chr2:20766200-20769200	Weak transcription	Fetal Intestine Small	intestine
33	chr2:20766200-20769400	Weak transcription	Brain Anterior Caudate	brain
34	chr2:20766200-20773400	Weak transcription	Brain Germinal Matrix	brain
35	chr2:20766400-20772800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr2:20766400-20776000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr2:20766600-20768800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:20766800-20780800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr2:20766800-20781000	Enhancers	Left Ventricle	heart
40	chr2:20767000-20768000	Enhancers	H1 Cell Line	embryonic stem cell
41	chr2:20767000-20768000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr2:20767000-20768600	Enhancers	Fetal Heart	heart
43	chr2:20767000-20769800	Enhancers	Placenta Amnion	Placenta Amnion
44	chr2:20767000-20781000	Enhancers	Right Atrium	heart
45	chr2:20767200-20769200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:20767200-20776600	Enhancers	Right Ventricle	heart
47	chr2:20767400-20768000	Enhancers	Fetal Lung	lung
48	chr2:20767400-20768000	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr2:20767400-20768200	Weak transcription	Liver	Liver
50	chr2:20767400-20768600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links