Variant report

Variant	rs2819032
Chromosome Location	chr10:43901864-43901865
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:43901067..43903154-chr19:16299161..16302163,3	K562	blood:
2	chr10:43901588..43903154-chr19:16299184..16302181,3	K562	blood:
3	chr10:43867647..43875264-chr10:43900659..43906151,11	MCF-7	breast:
4	chr10:43901751..43904156-chr7:26239345..26241405,2	K562	blood:
5	chr10:43901370..43906375-chr10:43928042..43934083,16	MCF-7	breast:
6	chr10:43901784..43908257-chr10:43928243..43934263,17	MCF-7	breast:
7	chr10:43899870..43905980-chr10:43953401..43957689,7	MCF-7	breast:
8	chr10:43892832..43893757-chr10:43901832..43902783,2	MCF-7	breast:
9	chr10:43901430..43902327-chr11:67272570..67273511,2	Hela-S3	cervix:
10	chr10:43901770..43904893-chr10:44100789..44103373,5	MCF-7	breast:
11	chr10:43696064..43699246-chr10:43901638..43904576,3	K562	blood:
12	chr10:43887055..43906178-chr10:43946385..43955803,85	K562	blood:
13	chr10:43901586..43902527-chr17:33905336..33905850,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000122566	Chromatin interaction
ENSG00000198298	Chromatin interaction
ENSG00000198915	Chromatin interaction
ENSG00000267033	Chromatin interaction
ENSG00000108733	Chromatin interaction
ENSG00000150201	Chromatin interaction
ENSG00000243660	Chromatin interaction
ENSG00000232004	Chromatin interaction
ENSG00000110697	Chromatin interaction
ENSG00000122565	Chromatin interaction
ENSG00000252532	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10793431	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10899794	0.88[ASN][1000 genomes]
rs10899797	0.96[ASN][1000 genomes]
rs10899798	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10899799	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11238526	0.95[ASN][1000 genomes]
rs1126709	0.99[ASN][1000 genomes]
rs12257917	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1416226	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs17153606	0.80[EUR][1000 genomes]
rs2066043	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs2066044	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs2247860	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs2247979	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2247981	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2248332	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs2248335	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2248469	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs2248931	0.80[ASN][1000 genomes]
rs2250444	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2252783	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2252785	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2252800	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2252804	0.91[AFR][1000 genomes]
rs2255967	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2256495	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2260200	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2261636	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2265886	0.86[AFR][1000 genomes]
rs2265887	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2265888	0.83[AFR][1000 genomes]
rs2265952	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2265953	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2265954	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2460558	0.88[ASN][1000 genomes]
rs2492404	0.85[ASN][1000 genomes]
rs2492405	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2492407	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2492408	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs2492409	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2492410	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs2492411	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs2492412	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2493648	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2819026	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2819033	0.81[EUR][1000 genomes]
rs2819034	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2946992	0.88[ASN][1000 genomes]
rs2999276	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2999282	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs2999286	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2999287	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs3000700	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4551711	0.82[AFR][1000 genomes]
rs4559639	0.81[AMR][1000 genomes]
rs4584528	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs4597022	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4948726	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56059584	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60739384	0.88[ASN][1000 genomes]
rs61859002	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6421744	0.83[AFR][1000 genomes]
rs7069214	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7070029	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7088430	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7089290	0.81[AMR][1000 genomes]
rs7092125	0.80[EUR][1000 genomes]
rs7092599	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7894374	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7905676	0.99[ASN][1000 genomes]
rs9422371	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	nsv825355	chr10:43890579-43923802	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
7	nsv825356	chr10:43893080-43946515	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43893600-43902200	Weak transcription	Aorta	Aorta
2	chr10:43897000-43902400	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr10:43899200-43902000	Flanking Active TSS	Primary T cells from cord blood	blood
4	chr10:43899400-43902600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
5	chr10:43900000-43902600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr10:43900200-43904600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
7	chr10:43900800-43902000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
8	chr10:43900800-43902200	Flanking Active TSS	Thymus	Thymus
9	chr10:43900800-43902400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
10	chr10:43900800-43905600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr10:43901000-43902000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr10:43901000-43902000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
13	chr10:43901000-43902000	Enhancers	Spleen	Spleen
14	chr10:43901000-43902000	Transcr. at gene 5' and 3'	A549	lung
15	chr10:43901000-43902400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr10:43901000-43903400	Enhancers	Fetal Heart	heart
17	chr10:43901000-43905800	Active TSS	HSMM	muscle
18	chr10:43901200-43902000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr10:43901200-43902000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr10:43901200-43902000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr10:43901200-43902000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
22	chr10:43901200-43902000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr10:43901200-43902000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
24	chr10:43901200-43902000	Flanking Active TSS	Colon Smooth Muscle	Colon
25	chr10:43901200-43902000	Flanking Active TSS	Psoas Muscle	Psoas
26	chr10:43901200-43902000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
27	chr10:43901200-43902000	Flanking Active TSS	Rectal Smooth Muscle	rectum
28	chr10:43901200-43902000	Transcr. at gene 5' and 3'	K562	blood
29	chr10:43901200-43902000	Flanking Active TSS	Osteobl	bone
30	chr10:43901200-43902200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr10:43901200-43902200	Enhancers	Brain Angular Gyrus	brain
32	chr10:43901200-43902200	Enhancers	Brain Cingulate Gyrus	brain
33	chr10:43901200-43902200	Flanking Active TSS	Brain Hippocampus Middle	brain
34	chr10:43901200-43902200	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr10:43901200-43902200	Enhancers	Brain Substantia Nigra	brain
36	chr10:43901200-43902200	Flanking Active TSS	Fetal Thymus	thymus
37	chr10:43901200-43902200	Flanking Active TSS	Pancreas	Pancrea
38	chr10:43901200-43902200	Enhancers	Placenta Amnion	Placenta Amnion
39	chr10:43901200-43902400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr10:43901200-43902400	Flanking Active TSS	Colonic Mucosa	Colon
41	chr10:43901200-43902400	Flanking Active TSS	HUVEC	blood vessel
42	chr10:43901200-43904000	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr10:43901200-43904400	Flanking Active TSS	Primary B cells from cord blood	blood
44	chr10:43901200-43905200	Active TSS	Small Intestine	intestine
45	chr10:43901200-43905800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr10:43901400-43902000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
47	chr10:43901400-43902000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr10:43901400-43902000	Flanking Active TSS	NH-A	brain
49	chr10:43901400-43902200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr10:43901400-43902200	Flanking Active TSS	Adipose Nuclei	Adipose

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