Variant report

Variant	rs2961590
Chromosome Location	chr10:4882534-4882535
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	chr10:4878551..4880241-chr10:4882135..4883965,2	MCF-7	breast:
4	chr10:4867330..4870814-chr10:4881434..4885680,3	K562	blood:

Variant related genes	Relation type
ENSG00000165568	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10430753	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10430775	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10430776	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1078063	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10904354	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10904355	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10904358	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11252793	0.82[EUR][1000 genomes]
rs11252795	0.82[AMR][1000 genomes]
rs11252797	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1869218	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1869221	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1901644	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1993181	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2123354	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2167703	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2397981	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2397984	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2924265	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2924267	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2961568	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2961571	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2961576	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2961578	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2961586	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2961589	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2961591	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2961596	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3110959	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34413015	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34835589	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35710579	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4551663	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7067785	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7069610	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7086904	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7900816	0.84[EUR][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:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4869200-4883600	Weak transcription	Thymus	Thymus
2	chr10:4869200-4884800	Weak transcription	Esophagus	oesophagus
3	chr10:4869200-4889200	Weak transcription	NHLF	lung
4	chr10:4869200-4889600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr10:4869200-4890400	Weak transcription	Right Atrium	heart
6	chr10:4869200-4891600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr10:4869200-4892200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr10:4869400-4883400	Weak transcription	Colonic Mucosa	Colon
9	chr10:4869400-4886800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr10:4869400-4889600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr10:4869400-4889600	Weak transcription	HSMM	muscle
12	chr10:4869400-4891600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr10:4869600-4883400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr10:4869600-4885000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr10:4869600-4889200	Weak transcription	HUVEC	blood vessel
16	chr10:4869600-4889600	Weak transcription	NHEK	skin
17	chr10:4869800-4884800	Weak transcription	Right Ventricle	heart
18	chr10:4869800-4885800	Weak transcription	Stomach Mucosa	stomach
19	chr10:4870600-4886200	Weak transcription	Small Intestine	intestine
20	chr10:4870600-4887800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr10:4870600-4891800	Weak transcription	Fetal Brain Male	brain
22	chr10:4872400-4889200	Weak transcription	NHDF-Ad	bronchial
23	chr10:4872600-4889200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr10:4872600-4892400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr10:4872800-4886600	Strong transcription	A549	lung
26	chr10:4873000-4887000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr10:4873000-4887600	Strong transcription	Fetal Muscle Leg	muscle
28	chr10:4873400-4885600	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr10:4874600-4891800	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr10:4875200-4887000	Weak transcription	Fetal Intestine Large	intestine
31	chr10:4876000-4891600	Weak transcription	Brain Angular Gyrus	brain
32	chr10:4878000-4884800	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr10:4878000-4891800	Weak transcription	Rectal Smooth Muscle	rectum
34	chr10:4878200-4884800	Weak transcription	Brain Cingulate Gyrus	brain
35	chr10:4878600-4894600	Weak transcription	Ovary	ovary
36	chr10:4878800-4884600	Weak transcription	Fetal Brain Female	brain
37	chr10:4878800-4885400	Weak transcription	Pancreas	Pancrea
38	chr10:4878800-4889400	Weak transcription	Osteobl	bone
39	chr10:4878800-4891800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr10:4878800-4891800	Weak transcription	Fetal Kidney	kidney
41	chr10:4879200-4891600	Weak transcription	Colon Smooth Muscle	Colon
42	chr10:4879400-4884800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr10:4879400-4891800	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr10:4879600-4882800	Enhancers	Fetal Heart	heart
45	chr10:4879800-4891800	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr10:4879800-4891800	Weak transcription	Lung	lung
47	chr10:4880000-4884400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr10:4880000-4884600	Weak transcription	Placenta	Placenta
49	chr10:4880000-4884800	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr10:4880000-4885600	Weak transcription	Brain Anterior Caudate	brain

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