Variant report

Variant	rs2924271
Chromosome Location	chr10:4880163-4880164
allele	C/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	chr10:4878716-4883689	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:4874323..4877569-chr10:4879999..4883471,5	K562	blood:
2	chr10:4867480..4871698-chr10:4879074..4886734,7	K562	blood:
3	chr10:4872707..4875986-chr10:4878312..4881108,3	MCF-7	breast:
4	chr10:4852442..4855384-chr10:4879168..4880754,2	K562	blood:
5	chr10:4878551..4880241-chr10:4882135..4883965,2	MCF-7	breast:

Variant related genes	Relation type
AKR1E2	TF binding region
ENSG00000165568	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10751991	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs10795205	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10904366	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs1901645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2924269	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2924273	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2924274	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2924276	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2924278	0.90[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2961561	1.00[ASN][1000 genomes]
rs2961562	0.99[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2961564	1.00[ASN][1000 genomes]
rs2961569	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2961572	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2961573	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2961574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2961577	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2961580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2961582	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2961583	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2961584	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2961585	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2961597	0.81[AMR][1000 genomes]
rs3924660	0.84[EUR][1000 genomes]
rs4242772	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4242773	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4242774	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs4242780	0.88[EUR][1000 genomes]
rs4317889	0.84[EUR][1000 genomes]
rs4347286	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4465268	0.84[EUR][1000 genomes]
rs4562702	0.95[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs4578280	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs4626979	0.84[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs4881356	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4881369	0.84[EUR][1000 genomes]
rs6601866	0.88[EUR][1000 genomes]
rs7077134	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7912440	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894792	chr10:4832920-5498724	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv948794	chr10:4863093-5227382	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1045155	chr10:4872239-5211318	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1040343	chr10:4872814-5196815	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv540462	chr10:4872814-5196815	Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv869470	chr10:4878904-5203685	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4869000-4881000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr10:4869200-4883600	Weak transcription	Thymus	Thymus
3	chr10:4869200-4884800	Weak transcription	Esophagus	oesophagus
4	chr10:4869200-4889200	Weak transcription	NHLF	lung
5	chr10:4869200-4889600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr10:4869200-4890400	Weak transcription	Right Atrium	heart
7	chr10:4869200-4891600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr10:4869200-4892200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr10:4869400-4883400	Weak transcription	Colonic Mucosa	Colon
10	chr10:4869400-4886800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr10:4869400-4889600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr10:4869400-4889600	Weak transcription	HSMM	muscle
13	chr10:4869400-4891600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr10:4869600-4883400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr10:4869600-4885000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr10:4869600-4889200	Weak transcription	HUVEC	blood vessel
17	chr10:4869600-4889600	Weak transcription	NHEK	skin
18	chr10:4869800-4880600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr10:4869800-4884800	Weak transcription	Right Ventricle	heart
20	chr10:4869800-4885800	Weak transcription	Stomach Mucosa	stomach
21	chr10:4870600-4886200	Weak transcription	Small Intestine	intestine
22	chr10:4870600-4887800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr10:4870600-4891800	Weak transcription	Fetal Brain Male	brain
24	chr10:4872400-4889200	Weak transcription	NHDF-Ad	bronchial
25	chr10:4872600-4889200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr10:4872600-4892400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr10:4872800-4882200	Weak transcription	Liver	Liver
28	chr10:4872800-4886600	Strong transcription	A549	lung
29	chr10:4873000-4880200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr10:4873000-4880200	Strong transcription	Aorta	Aorta
31	chr10:4873000-4880600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr10:4873000-4880600	Strong transcription	Adipose Nuclei	Adipose
33	chr10:4873000-4881200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr10:4873000-4887000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr10:4873000-4887600	Strong transcription	Fetal Muscle Leg	muscle
36	chr10:4873200-4880600	Strong transcription	Duodenum Mucosa	Duodenum
37	chr10:4873400-4880600	Strong transcription	Fetal Muscle Trunk	muscle
38	chr10:4873400-4885600	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr10:4874200-4881000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr10:4874600-4880200	Strong transcription	Spleen	Spleen
41	chr10:4874600-4891800	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr10:4875000-4880600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr10:4875200-4880600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr10:4875200-4887000	Weak transcription	Fetal Intestine Large	intestine
45	chr10:4875400-4880400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr10:4875600-4880200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr10:4875600-4880200	Strong transcription	Gastric	stomach
48	chr10:4876000-4880200	Strong transcription	Brain Germinal Matrix	brain
49	chr10:4876000-4891600	Weak transcription	Brain Angular Gyrus	brain
50	chr10:4877000-4880200	Enhancers	Primary T helper cells PMA-I stimulated	--

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