Variant report

Variant	rs10471270
Chromosome Location	chr5:60641570-60641571
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:60631915-60641788	IMR90	lung:	n/a	n/a
2	POLR2A	chr5:60641323-60641651	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:60637077..60642495-chr5:60646912..60651371,7	MCF-7	breast:
2	chr5:60456802..60459800-chr5:60641121..60644130,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251682	TF binding region
ENSG00000188725	Chromatin interaction
ENSG00000251279	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10051279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10054080	1.00[AMR][1000 genomes]
rs10054139	0.83[AFR][1000 genomes]
rs10055806	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10057354	1.00[AMR][1000 genomes]
rs10073626	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10079312	1.00[AMR][1000 genomes]
rs10471506	1.00[AMR][1000 genomes]
rs12332333	0.83[AFR][1000 genomes]
rs28640139	0.83[AFR][1000 genomes]
rs55772332	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59299298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59481395	1.00[AMR][1000 genomes]
rs60636715	1.00[AMR][1000 genomes]
rs73101794	1.00[AMR][1000 genomes]
rs73101796	1.00[AMR][1000 genomes]
rs73103607	1.00[AMR][1000 genomes]
rs7443689	0.95[AFR][1000 genomes];1.00[AMR][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	nsv1028884	chr5:60414723-60732779	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
2	nsv823089	chr5:60589501-60669903	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv1815974	chr5:60626344-60664356	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60631000-60644000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr5:60631400-60642200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr5:60631400-60652800	Weak transcription	Primary B cells from cord blood	blood
4	chr5:60632000-60648600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:60633600-60643200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:60633800-60642400	Enhancers	A549	lung
7	chr5:60636200-60644400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:60637200-60643200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:60637200-60644000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr5:60637200-60645800	Weak transcription	Stomach Mucosa	stomach
11	chr5:60637200-60647600	Weak transcription	Colonic Mucosa	Colon
12	chr5:60637200-60651200	Enhancers	Brain Anterior Caudate	brain
13	chr5:60638000-60643000	Weak transcription	Spleen	Spleen
14	chr5:60638000-60643200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:60638000-60651200	Enhancers	Brain Hippocampus Middle	brain
16	chr5:60638200-60643000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr5:60638200-60653000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:60638400-60642400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:60638400-60646000	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr5:60638400-60648600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:60638400-60650600	Enhancers	Brain Substantia Nigra	brain
22	chr5:60638400-60653000	Weak transcription	NHEK	skin
23	chr5:60638400-60655000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr5:60638400-60665200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr5:60638600-60641600	Enhancers	Fetal Heart	heart
26	chr5:60638600-60642800	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr5:60638800-60641600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr5:60638800-60641600	Enhancers	Brain Cingulate Gyrus	brain
29	chr5:60638800-60650600	Enhancers	Brain Angular Gyrus	brain
30	chr5:60639000-60641600	Enhancers	Colon Smooth Muscle	Colon
31	chr5:60639200-60643400	Enhancers	Liver	Liver
32	chr5:60640000-60643400	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr5:60640200-60641800	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr5:60640400-60642800	Weak transcription	NHDF-Ad	bronchial
35	chr5:60640400-60647800	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr5:60640400-60652800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:60640400-60665600	Weak transcription	Gastric	stomach
38	chr5:60640600-60642000	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr5:60640600-60642000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr5:60640600-60642200	Weak transcription	Osteobl	bone
41	chr5:60640600-60642400	Weak transcription	Fetal Intestine Small	intestine
42	chr5:60640600-60643000	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr5:60640600-60643000	Weak transcription	Esophagus	oesophagus
44	chr5:60640600-60643000	Weak transcription	Left Ventricle	heart
45	chr5:60640600-60643000	Weak transcription	Lung	lung
46	chr5:60640600-60643000	Weak transcription	Ovary	ovary
47	chr5:60640600-60643000	Weak transcription	Psoas Muscle	Psoas
48	chr5:60640600-60643000	Weak transcription	Right Atrium	heart
49	chr5:60640600-60643000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr5:60640600-60643200	Weak transcription	Primary B cells from peripheral blood	blood

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