Variant report

Variant	rs28588745
Chromosome Location	chr8:10647044-10647045
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10644063..10645864-chr8:10646300..10647918,2	K562	blood:
2	chr8:10640744..10643813-chr8:10646247..10648006,3	K562	blood:

Variant related genes	Relation type
ENSG00000252565	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10094907	0.83[AFR][1000 genomes]
rs10095737	0.93[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs10099021	0.88[AFR][1000 genomes]
rs10107180	0.89[AFR][1000 genomes]
rs10107303	0.92[AFR][1000 genomes]
rs10109034	0.82[AFR][1000 genomes]
rs10113332	0.88[AFR][1000 genomes]
rs11250075	0.84[ASN][1000 genomes]
rs12550169	0.82[AFR][1000 genomes]
rs12681175	0.84[AFR][1000 genomes]
rs2116096	0.87[AFR][1000 genomes]
rs6601524	0.88[AFR][1000 genomes]
rs6985218	0.88[AFR][1000 genomes]
rs6998658	0.84[ASN][1000 genomes]
rs7014168	0.97[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs7820237	0.84[ASN][1000 genomes]
rs7821812	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7823088	0.93[AFR][1000 genomes]
rs7830528	0.84[AFR][1000 genomes]
rs9644730	0.88[AFR][1000 genomes]
rs9657541	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1026802	chr8:10576444-10754489	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
5	nsv539469	chr8:10576444-10754489	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1017836	chr8:10591801-10803617	Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1034988	chr8:10591801-10804243	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
8	nsv519768	chr8:10600254-10691993	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1024806	chr8:10605438-10662555	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv831232	chr8:10606053-10774948	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
11	nsv1031709	chr8:10610545-10657726	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	esv2764105	chr8:10610557-10657726	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv519376	chr8:10611708-10691993	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
14	nsv429860	chr8:10615990-10685890	Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
15	nsv1023085	chr8:10617908-10657584	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv539470	chr8:10617908-10657584	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv1019754	chr8:10617908-10700140	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
18	nsv539471	chr8:10617908-10700140	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
19	nsv1026230	chr8:10618928-10652924	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	nsv539472	chr8:10618928-10652924	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	nsv1031726	chr8:10627742-10749369	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10610800-10662000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr8:10618800-10665200	Weak transcription	Fetal Brain Female	brain
3	chr8:10619200-10656400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr8:10619400-10661600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr8:10620000-10669800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr8:10621200-10662000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr8:10621400-10656000	Weak transcription	HepG2	liver
8	chr8:10622800-10656000	Weak transcription	A549	lung
9	chr8:10623200-10650000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr8:10623400-10656800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr8:10623400-10662600	Weak transcription	Fetal Thymus	thymus
12	chr8:10623400-10662800	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr8:10623400-10665000	Weak transcription	Fetal Intestine Large	intestine
14	chr8:10623600-10648800	Weak transcription	Fetal Intestine Small	intestine
15	chr8:10623600-10667000	Weak transcription	Thymus	Thymus
16	chr8:10623800-10648800	Weak transcription	Primary B cells from peripheral blood	blood
17	chr8:10623800-10649600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr8:10623800-10656800	Weak transcription	Gastric	stomach
19	chr8:10624000-10649600	Weak transcription	Pancreas	Pancrea
20	chr8:10634600-10647200	Weak transcription	Fetal Stomach	stomach
21	chr8:10635000-10652200	Weak transcription	Liver	Liver
22	chr8:10635400-10664400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr8:10635600-10656800	Weak transcription	Ovary	ovary
24	chr8:10639800-10648800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr8:10639800-10648800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr8:10639800-10649200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr8:10639800-10649600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr8:10640200-10669800	Weak transcription	Aorta	Aorta
29	chr8:10640400-10649800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr8:10640600-10662800	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr8:10641000-10648000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr8:10641200-10657000	Weak transcription	Psoas Muscle	Psoas
33	chr8:10641200-10665000	Weak transcription	Dnd41	blood
34	chr8:10641400-10662000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr8:10641600-10650400	Weak transcription	Hela-S3	cervix
36	chr8:10643600-10651200	Strong transcription	Primary T cells from cord blood	blood
37	chr8:10644200-10653600	Weak transcription	Right Atrium	heart
38	chr8:10644200-10661400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr8:10644400-10649400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr8:10644400-10656800	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr8:10644800-10647600	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr8:10644800-10647800	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr8:10645000-10647200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr8:10645000-10648000	Genic enhancers	K562	blood
45	chr8:10645000-10670000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr8:10645400-10647800	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr8:10645600-10647200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr8:10645600-10647400	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr8:10645600-10647400	Enhancers	Adipose Nuclei	Adipose
50	chr8:10645600-10647400	Enhancers	NHEK	skin

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