Variant report

Variant	rs2999288
Chromosome Location	chr10:43946973-43946974
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:43887055..43906178-chr10:43946385..43955803,85	K562	blood:

Variant related genes	Relation type
ENSG00000169813	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1106215	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17153601	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17366781	0.80[EUR][1000 genomes]
rs1856400	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2248807	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2261637	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2265955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2812798	0.89[EUR][1000 genomes]
rs2819020	0.81[AMR][1000 genomes]
rs2819025	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2999222	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2999290	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3006410	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3124211	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4948727	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55765722	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56037308	0.84[EUR][1000 genomes]
rs56087058	0.85[EUR][1000 genomes]
rs56275379	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72785248	0.80[EUR][1000 genomes]
rs72785255	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72785256	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72785266	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72787434	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7916718	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9422365	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[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	nsv895087	chr10:43783339-43982390	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv831842	chr10:43846541-43987501	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv895088	chr10:43871999-44003101	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv825354	chr10:43883418-43949936	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
5	esv3448813	chr10:43919995-43950867	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv1043746	chr10:43940898-43977155	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43933000-43947200	Weak transcription	Spleen	Spleen
2	chr10:43933000-43949600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr10:43933000-43950200	Weak transcription	Lung	lung
4	chr10:43933200-43947600	Weak transcription	Brain Anterior Caudate	brain
5	chr10:43933200-43948000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr10:43933200-43950000	Weak transcription	Brain Substantia Nigra	brain
7	chr10:43933200-43950200	Weak transcription	Brain Angular Gyrus	brain
8	chr10:43933200-43950200	Weak transcription	Brain Hippocampus Middle	brain
9	chr10:43933200-43950200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr10:43933200-43950200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr10:43933400-43948000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr10:43933600-43947200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr10:43933600-43947400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr10:43933600-43948200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr10:43933600-43948200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr10:43933600-43949800	Weak transcription	Adipose Nuclei	Adipose
17	chr10:43934200-43949200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr10:43936400-43950000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr10:43938600-43948000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr10:43940200-43950200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr10:43940400-43950200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr10:43940400-43950200	Weak transcription	Colonic Mucosa	Colon
23	chr10:43940800-43947200	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr10:43940800-43949600	Weak transcription	Hela-S3	cervix
25	chr10:43940800-43950600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr10:43941200-43947200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr10:43942600-43947200	Weak transcription	Fetal Muscle Leg	muscle
28	chr10:43943000-43950400	Weak transcription	Fetal Intestine Large	intestine
29	chr10:43943200-43950400	Weak transcription	Fetal Stomach	stomach
30	chr10:43943800-43947800	Enhancers	Primary B cells from peripheral blood	blood
31	chr10:43943800-43950200	Weak transcription	Fetal Intestine Small	intestine
32	chr10:43945000-43950200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr10:43945200-43947200	Weak transcription	Primary T cells from cord blood	blood
34	chr10:43946000-43947200	Enhancers	Primary B cells from cord blood	blood
35	chr10:43946000-43947400	Enhancers	Primary T cells fromperipheralblood	blood
36	chr10:43946000-43947400	Enhancers	Thymus	Thymus
37	chr10:43946400-43947200	Enhancers	Dnd41	blood
38	chr10:43946400-43947400	Enhancers	Fetal Thymus	thymus
39	chr10:43946400-43950200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr10:43946400-43950600	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr10:43946600-43947200	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr10:43946600-43947200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr10:43946600-43947400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr10:43946600-43950000	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr10:43946800-43947200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr10:43946800-43947200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr10:43946800-43947400	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr10:43946800-43949200	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr10:43946800-43950000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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