Variant report

Variant	rs10478796
Chromosome Location	chr5:127436187-127436188
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:127428694..127433227-chr5:127434862..127437524,4	K562	blood:
2	chr5:127428726..127433227-chr5:127434885..127438247,5	K562	blood:
3	chr5:127435818..127437710-chr5:127440981..127443609,2	K562	blood:
4	chr5:127419054..127420642-chr5:127435156..127436795,2	MCF-7	breast:
5	chr5:127429085..127432949-chr5:127432984..127436984,4	MCF-7	breast:
6	chr5:127417604..127421572-chr5:127435124..127437256,5	K562	blood:

Variant related genes	Relation type
ENSG00000064651	Chromatin interaction
ENSG00000245937	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10045113	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10045307	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10057122	0.81[AMR][1000 genomes]
rs10059867	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10060181	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10060390	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10061367	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10064098	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10064357	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10089	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1012851	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10223203	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1036171	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10463838	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10463839	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10478798	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10478803	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11957052	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13355233	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13356473	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13357268	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13358455	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1432614	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1432615	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1559263	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1560636	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17164310	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17164427	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17764954	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1842006	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1864922	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1864923	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1962291	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1985268	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2016015	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2054444	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2190797	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2228112	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2409109	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2898096	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3087889	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35212223	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3792866	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3805606	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3805607	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3805612	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3805615	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3816006	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4835940	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4835941	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4835943	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4835944	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4835945	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4836358	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4836359	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4836360	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4836361	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4836363	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4836366	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4836367	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4836368	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4836369	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4836370	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56066100	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58433932	0.91[AMR][1000 genomes]
rs60964984	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62373701	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6595798	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6595800	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6595806	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6595807	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6862701	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6873339	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6875982	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6879970	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6887674	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6887847	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72794392	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72794396	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72794400	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72794401	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs736969	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs758179	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7703634	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7713860	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7718286	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7732599	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs891886	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9968597	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1813981	chr5:127327649-127437401	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	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
3	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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127421400-127436400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:127421400-127450200	Weak transcription	Fetal Thymus	thymus
3	chr5:127421600-127466800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr5:127423000-127436600	Weak transcription	HSMMtube	muscle
5	chr5:127423600-127436400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr5:127423600-127444800	Weak transcription	Fetal Stomach	stomach
7	chr5:127423600-127494000	Weak transcription	K562	blood
8	chr5:127425800-127445000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr5:127430000-127441000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr5:127432400-127454600	Weak transcription	Fetal Kidney	kidney
11	chr5:127432600-127437200	Weak transcription	NHDF-Ad	bronchial
12	chr5:127434400-127449000	Weak transcription	Dnd41	blood
13	chr5:127434600-127444000	Weak transcription	Fetal Intestine Large	intestine
14	chr5:127434800-127438600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:127434800-127445400	Weak transcription	Primary T cells from cord blood	blood
16	chr5:127434800-127450600	Weak transcription	Fetal Intestine Small	intestine
17	chr5:127435000-127436600	Weak transcription	Fetal Lung	lung
18	chr5:127435000-127437800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr5:127435000-127438600	Weak transcription	Primary B cells from peripheral blood	blood
20	chr5:127435000-127441000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr5:127435000-127441000	Weak transcription	Duodenum Mucosa	Duodenum
22	chr5:127435000-127445800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr5:127435000-127447600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr5:127435000-127447600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr5:127435000-127448600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:127435000-127448600	Weak transcription	Primary hematopoietic stem cells	blood
27	chr5:127435000-127449600	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr5:127435200-127436200	Weak transcription	Brain Substantia Nigra	brain
29	chr5:127435200-127450400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr5:127435200-127450800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:127435400-127436800	Enhancers	Fetal Heart	heart
32	chr5:127435600-127445600	Weak transcription	Primary B cells from cord blood	blood
33	chr5:127435600-127449400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr5:127435800-127436200	Enhancers	Small Intestine	intestine
35	chr5:127435800-127436200	Enhancers	Stomach Smooth Muscle	stomach
36	chr5:127435800-127436800	Enhancers	Brain Angular Gyrus	brain
37	chr5:127435800-127436800	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr5:127435800-127437000	Enhancers	Brain Anterior Caudate	brain
39	chr5:127436000-127436200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr5:127436000-127436400	Weak transcription	A549	lung
41	chr5:127436000-127436600	Enhancers	Brain Hippocampus Middle	brain
42	chr5:127436000-127436600	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr5:127436000-127436800	Enhancers	Left Ventricle	heart
44	chr5:127436000-127437600	Enhancers	Brain Cingulate Gyrus	brain
45	chr5:127436000-127437600	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr5:127436000-127443200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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