Variant report

Variant	rs10084639
Chromosome Location	chr22:29075122-29075123
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29069948..29071525-chr22:29073386..29075260,2	K562	blood:
2	chr22:29074345..29076106-chr22:29137826..29140000,2	K562	blood:

Variant related genes	Relation type
ENSG00000183765	Chromatin interaction
ENSG00000100209	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10222318	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10439931	1.00[ASN][1000 genomes]
rs12165489	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12165715	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12165893	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166245	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166475	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12167122	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12167434	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12167532	0.80[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12167614	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12168031	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12168765	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12169071	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12169120	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12169232	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12169262	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12169460	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12169880	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12171099	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134547	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs16986398	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs17883639	1.00[ASN][1000 genomes]
rs17883954	1.00[ASN][1000 genomes]
rs17886970	1.00[ASN][1000 genomes]
rs2013784	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2144922	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2881496	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs28818228	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58049055	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58542867	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6005809	0.86[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs60065194	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60248971	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60693420	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6519758	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7284670	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7286816	0.84[AMR][1000 genomes]
rs7288792	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7289534	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7289625	0.89[EUR][1000 genomes]
rs7293232	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73430118	0.91[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs73430168	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73430179	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73430189	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73432205	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8135424	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8136767	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8136905	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs8136995	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8142681	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9620808	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9620809	0.87[AFR][1000 genomes]
rs9620810	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620811	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625498	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9625509	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625512	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625513	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625514	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625516	0.87[AFR][1000 genomes]
rs9625518	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625520	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625521	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625522	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625523	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625524	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916473	chr22:28837041-29215603	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv459867	chr22:28993183-29109036	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv588881	chr22:28993183-29109036	Weak transcription Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1061684	chr22:29026341-29088590	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv9895	chr22:29029961-29184277	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1064624	chr22:29065528-29130728	Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
8	esv17527	chr22:29066121-29102976	Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv966098	chr22:29069640-29088208	Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv966097	chr22:29069640-29092062	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	esv1832949	chr22:29072426-29092190	Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	esv1806615	chr22:29072426-29095085	Bivalent/Poised TSS Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	esv1828355	chr22:29072426-29095085	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	esv1843637	chr22:29072426-29095085	Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	esv1832454	chr22:29074021-29094885	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29074200-29076400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:29074400-29075200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
3	chr22:29074400-29076400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr22:29074400-29076400	Active TSS	Brain Angular Gyrus	brain
5	chr22:29074400-29076400	Active TSS	Fetal Brain Female	brain
6	chr22:29074400-29076400	Active TSS	Hela-S3	cervix
7	chr22:29074400-29076400	Active TSS	NHDF-Ad	bronchial
8	chr22:29074400-29076600	Active TSS	Brain Anterior Caudate	brain
9	chr22:29074600-29075200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr22:29074600-29075200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
11	chr22:29074600-29075200	Active TSS	Rectal Smooth Muscle	rectum
12	chr22:29074600-29076200	Active TSS	Fetal Lung	lung
13	chr22:29074600-29076400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr22:29074600-29076400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr22:29074600-29076400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr22:29074600-29076400	Active TSS	Ovary	ovary
17	chr22:29074600-29076400	Active TSS	A549	lung
18	chr22:29074600-29076400	Active TSS	HUVEC	blood vessel
19	chr22:29074600-29076400	Active TSS	NHLF	lung
20	chr22:29074600-29076400	Active TSS	Osteobl	bone
21	chr22:29074600-29076600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr22:29074600-29076600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr22:29074600-29076800	Active TSS	Colon Smooth Muscle	Colon
24	chr22:29074800-29075200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr22:29074800-29075200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
26	chr22:29074800-29075200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
27	chr22:29074800-29075200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
28	chr22:29074800-29075200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
29	chr22:29074800-29075200	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
30	chr22:29074800-29075200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr22:29074800-29075200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr22:29074800-29075200	Bivalent/Poised TSS	Colonic Mucosa	Colon
33	chr22:29074800-29075200	Flanking Active TSS	Left Ventricle	heart
34	chr22:29074800-29075200	Bivalent/Poised TSS	Thymus	Thymus
35	chr22:29074800-29075200	Bivalent/Poised TSS	HSMM	muscle
36	chr22:29074800-29075400	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr22:29074800-29075400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
38	chr22:29074800-29075400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
39	chr22:29074800-29075400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr22:29074800-29075400	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr22:29074800-29075400	Flanking Active TSS	Liver	Liver
42	chr22:29074800-29075400	Active TSS	Fetal Heart	heart
43	chr22:29074800-29075400	Flanking Active TSS	Fetal Muscle Trunk	muscle
44	chr22:29074800-29075400	Flanking Active TSS	Pancreas	Pancrea
45	chr22:29074800-29075400	Flanking Active TSS	Right Ventricle	heart
46	chr22:29074800-29075400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr22:29074800-29075400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr22:29074800-29075600	Flanking Active TSS	Placenta	Placenta
49	chr22:29074800-29076200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr22:29074800-29076200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum

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