Variant report

Variant	rs10099866
Chromosome Location	chr8:62617691-62617692
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:62590444..62593508-chr8:62615340..62619147,4	K562	blood:
2	chr8:62600308..62602357-chr8:62615756..62618416,2	K562	blood:
3	chr8:62570501..62572096-chr8:62617422..62619249,2	K562	blood:
4	chr8:62597352..62599123-chr8:62616045..62617988,2	K562	blood:

Variant related genes	Relation type
ENSG00000198363	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10090651	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10098691	0.94[EUR][1000 genomes]
rs10108427	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10111006	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11986004	0.93[EUR][1000 genomes]
rs11992990	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13255699	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16927652	0.92[EUR][1000 genomes]
rs16927767	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17205360	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17793991	0.80[EUR][1000 genomes]
rs2350917	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2350925	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28409877	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2882536	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35337652	0.93[EUR][1000 genomes]
rs35550451	0.92[EUR][1000 genomes]
rs35683980	0.93[EUR][1000 genomes]
rs4272369	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4354302	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4377960	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4446731	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4515541	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4633055	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6471968	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6549	0.92[EUR][1000 genomes]
rs67189750	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6984286	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6985520	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6990099	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7009611	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7015043	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7813834	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7830237	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7840731	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7842421	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	esv2761430	chr8:62517980-62873803	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1015216	chr8:62517980-62873803	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62579400-62623000	Weak transcription	Brain Cingulate Gyrus	brain
2	chr8:62607200-62619000	Weak transcription	NHEK	skin
3	chr8:62609000-62619800	Weak transcription	Colon Smooth Muscle	Colon
4	chr8:62610000-62621200	Weak transcription	Brain Anterior Caudate	brain
5	chr8:62610000-62624400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr8:62610400-62620000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr8:62611400-62619400	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr8:62611800-62618600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:62612800-62619800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr8:62612800-62620000	Weak transcription	Liver	Liver
11	chr8:62613000-62618800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr8:62613000-62618800	Weak transcription	Aorta	Aorta
13	chr8:62613000-62619400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr8:62613000-62620000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:62613000-62620200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr8:62613000-62620600	Weak transcription	HSMM	muscle
17	chr8:62613000-62621200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr8:62613000-62621200	Weak transcription	Pancreas	Pancrea
19	chr8:62613000-62624600	Weak transcription	Brain Germinal Matrix	brain
20	chr8:62613000-62626400	Weak transcription	Lung	lung
21	chr8:62613400-62618000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr8:62613600-62619200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:62613800-62618600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr8:62613800-62618800	Weak transcription	Gastric	stomach
25	chr8:62613800-62619200	Weak transcription	Fetal Heart	heart
26	chr8:62613800-62621200	Weak transcription	Ovary	ovary
27	chr8:62613800-62621200	Weak transcription	Small Intestine	intestine
28	chr8:62613800-62622000	Weak transcription	Fetal Lung	lung
29	chr8:62613800-62622400	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr8:62613800-62622800	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr8:62613800-62623000	Weak transcription	Brain Angular Gyrus	brain
32	chr8:62613800-62623200	Weak transcription	Primary B cells from peripheral blood	blood
33	chr8:62613800-62624600	Weak transcription	Left Ventricle	heart
34	chr8:62613800-62624600	Weak transcription	Right Ventricle	heart
35	chr8:62613800-62624600	Weak transcription	Thymus	Thymus
36	chr8:62614000-62618600	Weak transcription	Fetal Thymus	thymus
37	chr8:62614000-62619200	Weak transcription	HMEC	breast
38	chr8:62614000-62620000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr8:62614000-62620000	Weak transcription	NH-A	brain
40	chr8:62614000-62620000	Weak transcription	NHLF	lung
41	chr8:62614000-62620600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr8:62614000-62621200	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr8:62614000-62622200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr8:62614000-62624400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr8:62614400-62619200	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr8:62614400-62620600	Weak transcription	Fetal Intestine Large	intestine
47	chr8:62614800-62620000	Weak transcription	Stomach Mucosa	stomach
48	chr8:62616000-62620200	Weak transcription	Primary hematopoietic stem cells	blood
49	chr8:62616000-62620800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr8:62616400-62617800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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