Variant report

Variant	rs7565075
Chromosome Location	chr2:20768414-20768415
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	chr2:20645080..20652615-chr2:20762107..20769809,15	MCF-7	breast:
5	chr2:20767266..20769707-chr2:20793726..20796533,3	K562	blood:
6	chr2:20763374..20764943-chr2:20765798..20769722,3	K562	blood:
7	chr2:20762656..20765559-chr2:20766415..20769350,4	MCF-7	breast:

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

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10186749	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10200606	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10200781	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13004279	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4666311	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4666312	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4666313	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4666314	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4666425	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72782337	0.91[EUR][1000 genomes]
rs72782346	0.93[EUR][1000 genomes]
rs7589179	0.88[AFR][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	chr2:20764400-20778200	Enhancers	HepG2	liver
5	chr2:20764600-20768800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:20764600-20769000	Enhancers	Placenta	Placenta
7	chr2:20764600-20770200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:20764800-20771600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr2:20765000-20770400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:20765000-20772000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:20765400-20769400	Enhancers	Fetal Muscle Leg	muscle
12	chr2:20765600-20769600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:20765600-20780800	Enhancers	Adipose Nuclei	Adipose
14	chr2:20765800-20768600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:20765800-20769000	Weak transcription	Colon Smooth Muscle	Colon
16	chr2:20765800-20773600	Weak transcription	Fetal Thymus	thymus
17	chr2:20765800-20786200	Enhancers	HUVEC	blood vessel
18	chr2:20766000-20769400	Weak transcription	Fetal Intestine Large	intestine
19	chr2:20766000-20772600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:20766000-20773600	Weak transcription	Fetal Kidney	kidney
21	chr2:20766200-20769200	Weak transcription	Fetal Intestine Small	intestine
22	chr2:20766200-20769400	Weak transcription	Brain Anterior Caudate	brain
23	chr2:20766200-20773400	Weak transcription	Brain Germinal Matrix	brain
24	chr2:20766400-20772800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr2:20766400-20776000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr2:20766600-20768800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:20766800-20780800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr2:20766800-20781000	Enhancers	Left Ventricle	heart
29	chr2:20767000-20768600	Enhancers	Fetal Heart	heart
30	chr2:20767000-20769800	Enhancers	Placenta Amnion	Placenta Amnion
31	chr2:20767000-20781000	Enhancers	Right Atrium	heart
32	chr2:20767200-20769200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:20767200-20776600	Enhancers	Right Ventricle	heart
34	chr2:20767400-20768600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr2:20767400-20769800	Enhancers	NHEK	skin
36	chr2:20767400-20770400	Enhancers	Esophagus	oesophagus
37	chr2:20767400-20772200	Enhancers	Lung	lung
38	chr2:20767400-20774400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:20767400-20774600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
40	chr2:20767400-20778200	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr2:20767600-20769000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:20767600-20769800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:20767800-20769000	Enhancers	Brain Substantia Nigra	brain
44	chr2:20767800-20770800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr2:20767800-20778600	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr2:20767800-20782600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr2:20768000-20769200	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr2:20768000-20769200	Enhancers	HMEC	breast
49	chr2:20768000-20769400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:20768000-20769400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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