Variant report

Variant	rs73919915
Chromosome Location	chr2:20780459-20780460
allele	C/G
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20777247..20781087-chr2:20782458..20786081,5	K562	blood:
2	chr2:20664924..20667934-chr2:20777556..20780555,3	MCF-7	breast:
3	chr2:20100218..20102448-chr2:20777945..20780505,2	K562	blood:
4	chr2:20777789..20780759-chr2:20800338..20803588,3	K562	blood:
5	chr2:20644778..20652349-chr2:20775724..20782509,25	MCF-7	breast:
6	chr2:20775386..20780947-chr2:20790998..20795393,7	K562	blood:
7	chr2:20772999..20776929-chr2:20778925..20783592,5	MCF-7	breast:
8	chr2:20777677..20780481-chr2:20791638..20794768,3	MCF-7	breast:
9	chr2:20778242..20781356-chr2:20782083..20785108,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000228950	Chromatin interaction
ENSG00000231948	Chromatin interaction
ENSG00000271991	Chromatin interaction
ENSG00000143878	Chromatin interaction
ENSG00000183891	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10176721	0.85[AMR][1000 genomes]
rs10200826	0.85[AMR][1000 genomes]
rs28488411	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28529647	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28600892	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28642817	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55751815	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55793738	0.90[AFR][1000 genomes]
rs57360378	0.87[AFR][1000 genomes]
rs57494499	0.85[AMR][1000 genomes]
rs57524662	0.85[AMR][1000 genomes]
rs58590712	0.85[AMR][1000 genomes]
rs58696000	0.85[AMR][1000 genomes]
rs58726406	0.89[AFR][1000 genomes]
rs59300971	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59618840	0.89[AFR][1000 genomes]
rs59771803	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59882809	0.85[AMR][1000 genomes]
rs60283906	0.85[AMR][1000 genomes]
rs60759855	0.90[AFR][1000 genomes]
rs61272752	0.90[AFR][1000 genomes]
rs61478003	0.85[AMR][1000 genomes]
rs62124225	0.92[AFR][1000 genomes]
rs62124226	0.92[AFR][1000 genomes]
rs62124227	0.92[AFR][1000 genomes]
rs62124228	0.92[AFR][1000 genomes]
rs62124229	0.92[AFR][1000 genomes]
rs62124230	0.92[AFR][1000 genomes]
rs62124231	0.92[AFR][1000 genomes]
rs62124232	0.92[AFR][1000 genomes]
rs62124234	0.89[AFR][1000 genomes]
rs73235057	0.85[AMR][1000 genomes]
rs73235060	0.85[AMR][1000 genomes]
rs73235063	0.85[AMR][1000 genomes]
rs73235064	0.85[AMR][1000 genomes]
rs73235072	0.85[AMR][1000 genomes]
rs73235100	0.85[AMR][1000 genomes]
rs73237114	0.85[AMR][1000 genomes]
rs73237135	0.85[AMR][1000 genomes]
rs73919913	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73919918	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73919920	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73919921	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73919922	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73919923	0.92[AFR][1000 genomes]
rs73919924	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73919926	0.84[AFR][1000 genomes]
rs73919928	0.92[AFR][1000 genomes]
rs73919930	0.81[AFR][1000 genomes]
rs7564684	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7574045	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7574289	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7588678	0.88[AFR][1000 genomes]
rs7601273	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
3	nsv1012037	chr2:20770850-20824893	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv535598	chr2:20770850-20824893	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 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	chr2:20765600-20780800	Enhancers	Adipose Nuclei	Adipose
2	chr2:20765800-20786200	Enhancers	HUVEC	blood vessel
3	chr2:20766800-20780800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr2:20766800-20781000	Enhancers	Left Ventricle	heart
5	chr2:20767000-20781000	Enhancers	Right Atrium	heart
6	chr2:20767800-20782600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:20769800-20781000	Enhancers	Fetal Muscle Leg	muscle
8	chr2:20772600-20781000	Enhancers	Placenta	Placenta
9	chr2:20772600-20785800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:20772800-20780800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:20773000-20781000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:20773400-20781200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr2:20773600-20781000	Enhancers	Lung	lung
14	chr2:20774600-20781000	Enhancers	Fetal Muscle Trunk	muscle
15	chr2:20775200-20780800	Enhancers	Placenta Amnion	Placenta Amnion
16	chr2:20775200-20781000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:20777000-20780800	Enhancers	NHLF	lung
18	chr2:20777000-20781000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:20777000-20781000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:20777000-20781000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:20777000-20781000	Enhancers	Stomach Mucosa	stomach
22	chr2:20777000-20782000	Enhancers	Brain Cingulate Gyrus	brain
23	chr2:20777200-20781000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:20777600-20781000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr2:20778000-20780800	Enhancers	Fetal Stomach	stomach
26	chr2:20778800-20784800	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr2:20779000-20780600	Weak transcription	Primary B cells from cord blood	blood
28	chr2:20779000-20782400	Weak transcription	Pancreas	Pancrea
29	chr2:20779000-20782800	Weak transcription	Gastric	stomach
30	chr2:20779400-20781000	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr2:20779400-20781200	Enhancers	Liver	Liver
32	chr2:20779400-20781200	Enhancers	Brain Hippocampus Middle	brain
33	chr2:20779600-20780600	Enhancers	Muscle Satellite Cultured Cells	--
34	chr2:20779600-20781000	Enhancers	Hela-S3	cervix
35	chr2:20779600-20783600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr2:20779600-20783800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr2:20779800-20780800	Enhancers	NH-A	brain
38	chr2:20779800-20781000	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr2:20779800-20783600	Weak transcription	Fetal Kidney	kidney
40	chr2:20779800-20783800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:20779800-20784000	Enhancers	HepG2	liver
42	chr2:20780000-20780600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr2:20780000-20780600	Weak transcription	HMEC	breast
44	chr2:20780000-20780800	Weak transcription	Fetal Intestine Small	intestine
45	chr2:20780000-20781400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:20780000-20781800	Weak transcription	Brain Anterior Caudate	brain
47	chr2:20780000-20782000	Weak transcription	Brain Angular Gyrus	brain
48	chr2:20780000-20782400	Weak transcription	Fetal Intestine Large	intestine
49	chr2:20780000-20782400	Weak transcription	Right Ventricle	heart
50	chr2:20780000-20783600	Weak transcription	Osteobl	bone

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