Variant report

Variant	rs72794370
Chromosome Location	chr5:127444907-127444908
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:127417788..127421083-chr5:127443681..127446699,3	K562	blood:

Variant related genes	Relation type
ENSG00000245937	Chromatin interaction
ENSG00000064651	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10478797	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10519971	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13357283	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17164310	0.83[AFR][1000 genomes]
rs17164395	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17839658	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3805603	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3805608	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3805610	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3828656	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56657382	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57249773	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72792276	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72792279	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72794361	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72794379	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72794386	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs72794392	0.86[AFR][1000 genomes]
rs72794396	0.86[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	nsv4993	chr5:127405214-127445622	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	esv1825644	chr5:127427533-127450581	Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127421400-127450200	Weak transcription	Fetal Thymus	thymus
2	chr5:127421600-127466800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:127423600-127494000	Weak transcription	K562	blood
4	chr5:127425800-127445000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr5:127432400-127454600	Weak transcription	Fetal Kidney	kidney
6	chr5:127434400-127449000	Weak transcription	Dnd41	blood
7	chr5:127434800-127445400	Weak transcription	Primary T cells from cord blood	blood
8	chr5:127434800-127450600	Weak transcription	Fetal Intestine Small	intestine
9	chr5:127435000-127445800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr5:127435000-127447600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:127435000-127447600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr5:127435000-127448600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:127435000-127448600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr5:127435000-127449600	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr5:127435200-127450400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr5:127435200-127450800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:127435600-127445600	Weak transcription	Primary B cells from cord blood	blood
18	chr5:127435600-127449400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:127436800-127445000	Weak transcription	Left Ventricle	heart
20	chr5:127437000-127449800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr5:127437200-127449800	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr5:127437400-127446000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr5:127437600-127445000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr5:127437600-127447600	Weak transcription	Brain Anterior Caudate	brain
25	chr5:127437600-127447600	Weak transcription	NH-A	brain
26	chr5:127437800-127451600	Weak transcription	HMEC	breast
27	chr5:127438000-127450600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr5:127438400-127450200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr5:127439200-127445000	Weak transcription	Psoas Muscle	Psoas
30	chr5:127439400-127445200	Weak transcription	Primary B cells from peripheral blood	blood
31	chr5:127439400-127447600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr5:127439400-127450400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr5:127440200-127445000	Weak transcription	Small Intestine	intestine
34	chr5:127441200-127450600	Weak transcription	Aorta	Aorta
35	chr5:127441200-127536800	Weak transcription	Colonic Mucosa	Colon
36	chr5:127441400-127445000	Weak transcription	Brain Substantia Nigra	brain
37	chr5:127441400-127445400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr5:127441400-127445800	Weak transcription	A549	lung
39	chr5:127441400-127449600	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr5:127441400-127450600	Weak transcription	Ovary	ovary
41	chr5:127441400-127450600	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr5:127441400-127457400	Weak transcription	Stomach Mucosa	stomach
43	chr5:127441600-127450600	Weak transcription	Brain Hippocampus Middle	brain
44	chr5:127441600-127450600	Weak transcription	Stomach Smooth Muscle	stomach
45	chr5:127441800-127445400	Weak transcription	Brain Angular Gyrus	brain
46	chr5:127441800-127448400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr5:127441800-127450600	Weak transcription	Rectal Smooth Muscle	rectum
48	chr5:127441800-127451000	Weak transcription	Colon Smooth Muscle	Colon
49	chr5:127442000-127449600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr5:127442400-127525000	Weak transcription	Right Ventricle	heart

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