Variant report

Variant	rs72795431
Chromosome Location	chr2:55225303-55225304
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	chr2:55224744..55226462-chr2:55275391..55278252,2	K562	blood:
2	chr2:55224682..55227904-chr2:55233478..55236485,4	MCF-7	breast:
3	chr2:55224190..55226193-chr2:55238312..55240025,2	K562	blood:
4	chr2:55224711..55226341-chr2:55275283..55277767,2	MCF-7	breast:
5	chr2:55224254..55226682-chr2:55399758..55402693,2	K562	blood:
6	chr2:55223597..55226125-chr2:55260747..55262677,2	K562	blood:
7	chr2:55224031..55227614-chr2:55234894..55236977,3	K562	blood:
8	chr2:55194049..55196977-chr2:55224979..55226629,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000214595	Chromatin interaction
ENSG00000115310	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10170340	0.83[ASN][1000 genomes]
rs12464447	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12464595	0.87[ASN][1000 genomes]
rs12475787	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12475904	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12479297	0.83[ASN][1000 genomes]
rs17046570	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17046594	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17347089	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17418675	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2289747	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2864049	0.85[ASN][1000 genomes]
rs55659423	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55698303	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55993793	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56013263	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6545467	0.83[ASN][1000 genomes]
rs6707036	0.82[EUR][1000 genomes]
rs67156582	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6730728	0.83[ASN][1000 genomes]
rs72795440	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7582359	0.82[EUR][1000 genomes]
rs7584354	0.83[ASN][1000 genomes]
rs7584386	0.83[ASN][1000 genomes]
rs887	0.81[EUR][1000 genomes];0.87[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	nsv834069	chr2:55096597-55251680	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv874155	chr2:55205262-55307646	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55191800-55234200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:55196200-55226400	Weak transcription	Thymus	Thymus
3	chr2:55198200-55237200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:55203800-55258400	Weak transcription	Esophagus	oesophagus
5	chr2:55210000-55228200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:55211200-55232000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:55212600-55226400	Weak transcription	Fetal Stomach	stomach
8	chr2:55213800-55226400	Weak transcription	Ovary	ovary
9	chr2:55214200-55234400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr2:55214400-55232800	Weak transcription	Fetal Brain Female	brain
11	chr2:55214600-55225600	Weak transcription	NH-A	brain
12	chr2:55214600-55226000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:55214800-55225600	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr2:55214800-55225600	Weak transcription	Brain Germinal Matrix	brain
15	chr2:55214800-55226000	Weak transcription	HUVEC	blood vessel
16	chr2:55214800-55226400	Weak transcription	Fetal Muscle Leg	muscle
17	chr2:55214800-55226400	Weak transcription	Fetal Thymus	thymus
18	chr2:55214800-55227200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr2:55214800-55227200	Weak transcription	HepG2	liver
20	chr2:55214800-55228800	Weak transcription	Fetal Intestine Large	intestine
21	chr2:55214800-55230600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr2:55214800-55231600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:55214800-55234200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr2:55214800-55236800	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr2:55215000-55225800	Weak transcription	Primary B cells from cord blood	blood
26	chr2:55215000-55225800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:55215000-55225800	Weak transcription	Hela-S3	cervix
28	chr2:55215200-55225400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:55215200-55227200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr2:55215200-55234200	Weak transcription	Dnd41	blood
31	chr2:55216000-55226000	Weak transcription	Right Atrium	heart
32	chr2:55216200-55226400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:55216400-55226400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr2:55217200-55226400	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr2:55217200-55226400	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr2:55219400-55225600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr2:55219400-55228800	Weak transcription	Aorta	Aorta
38	chr2:55219400-55233400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr2:55219600-55225600	Weak transcription	HMEC	breast
40	chr2:55220000-55226000	Weak transcription	NHEK	skin
41	chr2:55220000-55226600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:55220200-55227000	Enhancers	Brain Angular Gyrus	brain
43	chr2:55220400-55236800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr2:55220800-55226000	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr2:55221000-55226000	Weak transcription	Stomach Mucosa	stomach
46	chr2:55221000-55226400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr2:55221000-55226400	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr2:55221600-55226000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr2:55222200-55226000	Weak transcription	Rectal Smooth Muscle	rectum
50	chr2:55222800-55226200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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