Variant report

Variant	rs2280047
Chromosome Location	chr8:10621580-10621581
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10620237..10621942-chr8:10624836..10626716,2	K562	blood:
2	chr8:10615706..10617702-chr8:10620374..10622044,2	K562	blood:

Extended variants
information (count: 125 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs10089615	0.82[ASN][1000 genomes]
rs10091836	0.95[ASN][1000 genomes]
rs10092781	0.95[ASN][1000 genomes]
rs10094907	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10095737	0.95[ASN][1000 genomes]
rs10097531	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10099021	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10099137	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10099907	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10100265	0.84[ASN][1000 genomes]
rs10107180	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10107289	0.83[ASN][1000 genomes]
rs10107303	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10109034	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10113332	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10113343	0.96[ASN][1000 genomes]
rs1073913	0.84[ASN][1000 genomes]
rs1115866	0.82[ASN][1000 genomes]
rs1115867	0.82[ASN][1000 genomes]
rs11250069	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11250070	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11250071	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11250074	0.81[ASN][1000 genomes]
rs12056936	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12550169	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12550720	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12679010	0.81[ASN][1000 genomes]
rs12681175	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12682565	0.88[ASN][1000 genomes]
rs13276026	0.82[ASN][1000 genomes]
rs1430867	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17152302	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17152305	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1821001	0.94[ASN][1000 genomes]
rs1821002	0.81[ASN][1000 genomes]
rs1897207	0.81[ASN][1000 genomes]
rs1968400	0.83[ASN][1000 genomes]
rs1968401	0.83[ASN][1000 genomes]
rs2005311	0.89[ASN][1000 genomes]
rs2033369	0.95[ASN][1000 genomes]
rs2116092	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2116093	0.84[ASN][1000 genomes]
rs2116095	0.84[ASN][1000 genomes]
rs2116096	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2409663	0.81[ASN][1000 genomes]
rs2409669	0.84[ASN][1000 genomes]
rs28429578	0.83[EUR][1000 genomes]
rs28570522	0.81[ASN][1000 genomes]
rs28592638	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2898248	0.83[ASN][1000 genomes]
rs2898251	0.85[ASN][1000 genomes]
rs4240669	0.81[ASN][1000 genomes]
rs4321967	0.82[ASN][1000 genomes]
rs4840513	0.84[ASN][1000 genomes]
rs4841441	0.81[ASN][1000 genomes]
rs57076989	0.81[ASN][1000 genomes]
rs6601520	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6601521	0.84[ASN][1000 genomes]
rs6601522	0.84[ASN][1000 genomes]
rs6601523	0.84[ASN][1000 genomes]
rs6601524	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6601525	0.98[ASN][1000 genomes]
rs6981530	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6984744	0.81[ASN][1000 genomes]
rs6985218	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6989072	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6989370	0.84[ASN][1000 genomes]
rs6993841	0.81[ASN][1000 genomes]
rs6994595	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7002117	0.84[ASN][1000 genomes]
rs7002137	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7010926	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7014168	0.95[ASN][1000 genomes]
rs7014285	0.98[ASN][1000 genomes]
rs7015129	0.95[ASN][1000 genomes]
rs718741	0.83[ASN][1000 genomes]
rs718742	0.82[ASN][1000 genomes]
rs733395	1.00[ASN][1000 genomes]
rs733396	1.00[ASN][1000 genomes]
rs73542560	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73544343	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs736668	1.00[ASN][1000 genomes]
rs736669	1.00[ASN][1000 genomes]
rs765658	0.83[ASN][1000 genomes]
rs7813706	0.82[ASN][1000 genomes]
rs7814142	0.82[ASN][1000 genomes]
rs7820819	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7823088	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7826180	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7826189	0.95[ASN][1000 genomes]
rs7826218	0.99[ASN][1000 genomes]
rs7826392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7826458	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7830528	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7834466	0.82[ASN][1000 genomes]
rs7836194	0.84[ASN][1000 genomes]
rs7838341	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs891554	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs891555	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs891556	0.90[ASN][1000 genomes]
rs919555	0.98[ASN][1000 genomes]
rs9329231	0.84[ASN][1000 genomes]
rs9644730	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 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	nsv1022582	chr8:10571218-10636162	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv539468	chr8:10571218-10636162	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10610800-10622200	Weak transcription	Primary B cells from cord blood	blood
2	chr8:10610800-10662000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr8:10611200-10624400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr8:10612600-10621600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:10612800-10621600	Weak transcription	Spleen	Spleen
6	chr8:10613200-10622600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr8:10613400-10621600	Weak transcription	Aorta	Aorta
8	chr8:10614400-10634200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:10614800-10621800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr8:10614800-10622000	Weak transcription	Hela-S3	cervix
11	chr8:10615600-10621600	Weak transcription	Dnd41	blood
12	chr8:10615800-10621600	Weak transcription	Gastric	stomach
13	chr8:10616600-10621600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:10617400-10621600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr8:10618000-10621600	Weak transcription	Esophagus	oesophagus
16	chr8:10618000-10622000	Weak transcription	Fetal Thymus	thymus
17	chr8:10618000-10634400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr8:10618600-10621600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:10618600-10622400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr8:10618600-10628600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:10618600-10634200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr8:10618800-10621600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr8:10618800-10621600	Weak transcription	Pancreas	Pancrea
24	chr8:10618800-10621600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr8:10618800-10622000	Weak transcription	Brain Anterior Caudate	brain
26	chr8:10618800-10622400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr8:10618800-10623000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr8:10618800-10634200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:10618800-10634400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:10618800-10636400	Weak transcription	Psoas Muscle	Psoas
31	chr8:10618800-10646200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr8:10618800-10665200	Weak transcription	Fetal Brain Female	brain
33	chr8:10619000-10621800	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr8:10619000-10622000	Weak transcription	Brain Cingulate Gyrus	brain
35	chr8:10619000-10624000	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr8:10619000-10626000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr8:10619000-10636400	Weak transcription	HSMM	muscle
38	chr8:10619200-10621600	Weak transcription	Brain Substantia Nigra	brain
39	chr8:10619200-10621800	Weak transcription	Fetal Muscle Leg	muscle
40	chr8:10619200-10622000	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr8:10619200-10622400	Weak transcription	Brain Hippocampus Middle	brain
42	chr8:10619200-10622600	Weak transcription	Placenta	Placenta
43	chr8:10619200-10628200	Weak transcription	K562	blood
44	chr8:10619200-10634200	Weak transcription	Ovary	ovary
45	chr8:10619200-10634400	Weak transcription	HSMMtube	muscle
46	chr8:10619200-10635800	Weak transcription	Brain Angular Gyrus	brain
47	chr8:10619200-10644800	Weak transcription	Small Intestine	intestine
48	chr8:10619200-10656400	Weak transcription	Rectal Smooth Muscle	rectum
49	chr8:10619400-10661600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr8:10619800-10621800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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