Variant report

Variant	rs73919922
Chromosome Location	chr2:20783711-20783712
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20674241..20675059-chr2:20783155..20784026,4	MCF-7	breast:
2	chr2:20782430..20784045-chr2:20806055..20808351,2	K562	blood:
3	chr2:20783319..20786192-chr2:20833674..20835720,2	MCF-7	breast:
4	chr2:20777247..20781087-chr2:20782458..20786081,5	K562	blood:
5	chr2:20708377..20709312-chr2:20783279..20784059,2	MCF-7	breast:
6	chr2:20723966..20726064-chr2:20781037..20784035,2	K562	blood:
7	chr2:20645526..20651779-chr2:20782666..20787622,12	MCF-7	breast:
8	chr2:20674323..20674944-chr2:20783155..20784083,3	MCF-7	breast:
9	chr2:20646487..20649741-chr2:20783299..20785992,4	MCF-7	breast:
10	chr2:20778242..20781356-chr2:20782083..20785108,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000233416	Chromatin interaction
ENSG00000228950	Chromatin interaction
ENSG00000143878	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10176721	0.85[AMR][1000 genomes]
rs10200826	0.85[AMR][1000 genomes]
rs28488411	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28529647	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28600892	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28642817	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55751815	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55793738	0.97[AFR][1000 genomes]
rs57360378	0.93[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	0.96[AFR][1000 genomes]
rs59300971	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59618840	0.96[AFR][1000 genomes]
rs59771803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59882809	0.85[AMR][1000 genomes]
rs60283906	0.85[AMR][1000 genomes]
rs60759855	0.97[AFR][1000 genomes]
rs61272752	0.97[AFR][1000 genomes]
rs61478003	0.85[AMR][1000 genomes]
rs62124225	0.99[AFR][1000 genomes]
rs62124226	0.99[AFR][1000 genomes]
rs62124227	0.99[AFR][1000 genomes]
rs62124228	0.99[AFR][1000 genomes]
rs62124229	0.99[AFR][1000 genomes]
rs62124230	0.99[AFR][1000 genomes]
rs62124231	0.99[AFR][1000 genomes]
rs62124232	0.99[AFR][1000 genomes]
rs62124234	0.96[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	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73919915	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73919918	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73919920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73919921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73919923	0.99[AFR][1000 genomes]
rs73919924	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73919926	0.91[AFR][1000 genomes]
rs73919928	0.99[AFR][1000 genomes]
rs73919930	0.88[AFR][1000 genomes]
rs7564684	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7574045	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7574289	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7588678	0.94[AFR][1000 genomes]
rs7595132	0.81[AFR][1000 genomes]
rs7601273	1.00[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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20765800-20786200	Enhancers	HUVEC	blood vessel
2	chr2:20772600-20785800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:20778800-20784800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr2:20779600-20783800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:20779800-20783800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:20779800-20784000	Enhancers	HepG2	liver
7	chr2:20780000-20783800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr2:20780000-20783800	Weak transcription	Ovary	ovary
9	chr2:20780000-20784000	Weak transcription	Aorta	Aorta
10	chr2:20780000-20784200	Weak transcription	Psoas Muscle	Psoas
11	chr2:20780000-20784200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr2:20780000-20784400	Weak transcription	Colonic Mucosa	Colon
13	chr2:20780000-20786000	Weak transcription	Small Intestine	intestine
14	chr2:20780800-20784000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:20781200-20784200	Weak transcription	Liver	Liver
16	chr2:20781600-20785400	Enhancers	Placenta Amnion	Placenta Amnion
17	chr2:20781600-20786000	Enhancers	Brain Hippocampus Middle	brain
18	chr2:20781800-20786000	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr2:20781800-20786000	Enhancers	Brain Anterior Caudate	brain
20	chr2:20781800-20786000	Enhancers	Brain Substantia Nigra	brain
21	chr2:20781800-20786200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:20781800-20786800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:20782000-20783800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:20782000-20784000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:20782000-20785400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:20782000-20785800	Enhancers	Brain Angular Gyrus	brain
27	chr2:20782000-20785800	Enhancers	K562	blood
28	chr2:20782000-20786000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:20782000-20786200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr2:20782000-20786200	Enhancers	Fetal Intestine Small	intestine
31	chr2:20782000-20787400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr2:20782200-20784000	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr2:20782200-20786200	Enhancers	Placenta	Placenta
34	chr2:20782200-20786400	Enhancers	Fetal Stomach	stomach
35	chr2:20782400-20785600	Enhancers	Fetal Intestine Large	intestine
36	chr2:20782400-20785800	Enhancers	Brain Cingulate Gyrus	brain
37	chr2:20782400-20786000	Enhancers	Left Ventricle	heart
38	chr2:20782400-20786000	Enhancers	Pancreas	Pancrea
39	chr2:20782400-20786000	Enhancers	Right Ventricle	heart
40	chr2:20782400-20786400	Enhancers	Right Atrium	heart
41	chr2:20782400-20786400	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr2:20782600-20783800	Enhancers	Muscle Satellite Cultured Cells	--
43	chr2:20782600-20784000	Enhancers	Hela-S3	cervix
44	chr2:20782600-20784200	Enhancers	Stomach Smooth Muscle	stomach
45	chr2:20782600-20784200	Enhancers	NHLF	lung
46	chr2:20782600-20785000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr2:20782600-20785000	Enhancers	Stomach Mucosa	stomach
48	chr2:20782600-20786000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr2:20782600-20786000	Enhancers	Spleen	Spleen
50	chr2:20782600-20787800	Enhancers	Adipose Nuclei	Adipose

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