Variant report

Variant	rs7284322
Chromosome Location	chr22:29208838-29208839
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:29208833-29210305	HepG2	liver:	n/a	n/a
2	MAFK	chr22:29208531-29208892	IMR90	lung:	n/a	chr22:29208700-29208720 chr22:29208699-29208714
3	MAFK	chr22:29208531-29209070	HepG2	liver:	n/a	chr22:29208700-29208720 chr22:29208699-29208714
4	POLR2A	chr22:29208642-29209188	MCF-7	breast:	n/a	n/a
5	MAFF	chr22:29208548-29208884	K562	blood:	n/a	chr22:29208697-29208715
6	MAFK	chr22:29208663-29208882	H1-hESC	embryonic stem cell:	n/a	chr22:29208700-29208720 chr22:29208699-29208714
7	MAFK	chr22:29208530-29208922	HepG2	liver:	n/a	chr22:29208700-29208720 chr22:29208699-29208714
8	MAFK	chr22:29208572-29209034	K562	blood:	n/a	chr22:29208700-29208720 chr22:29208699-29208714
9	MAFF	chr22:29208531-29208904	HepG2	liver:	n/a	chr22:29208697-29208715

No.	Distal block	Cell Line	Cell type
1	chr22:29195974..29199914-chr22:29206456..29209636,5	K562	blood:
2	chr1:59248180..59249862-chr22:29208512..29210792,2	MCF-7	breast:
3	chr17:57916592..57918397-chr22:29207253..29209667,2	MCF-7	breast:
4	chr22:29133437..29141650-chr22:29203240..29216422,34	MCF-7	breast:
5	chr22:29167462..29171106-chr22:29208719..29213065,6	MCF-7	breast:
6	chr22:29126583..29142031-chr22:29203252..29220632,67	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272858	TF binding region
ENSG00000177606	Chromatin interaction
ENSG00000183765	Chromatin interaction
ENSG00000100219	Chromatin interaction
ENSG00000159873	Chromatin interaction
ENSG00000226471	Chromatin interaction
ENSG00000100209	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs12159764	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs132530	0.82[YRI][hapmap]
rs1547424	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16986714	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16986810	0.82[JPT][hapmap]
rs1894590	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2269575	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41281601	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4484131	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4645087	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5762799	1.00[YRI][hapmap]
rs57652775	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59954406	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5997399	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5997400	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5997403	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5997404	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6005875	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6005876	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6005878	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6005879	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6005893	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6005900	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6005905	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6005906	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6005907	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6005915	0.85[YRI][hapmap]
rs6005918	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6005920	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60513698	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6519764	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7290019	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7290679	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7290958	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7291783	0.84[ASN][1000 genomes]
rs73388819	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73388827	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73388828	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73388838	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73388841	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73388872	0.83[EUR][1000 genomes]
rs73399615	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73399621	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9941965	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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
3	nsv834169	chr22:29095446-29303929	Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29197200-29209800	Weak transcription	Left Ventricle	heart
2	chr22:29197200-29214200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr22:29197200-29231600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr22:29197400-29214400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr22:29197400-29220400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr22:29197600-29209800	Weak transcription	Ovary	ovary
7	chr22:29197800-29214200	Weak transcription	Right Ventricle	heart
8	chr22:29198000-29225200	Weak transcription	HSMM	muscle
9	chr22:29198200-29218600	Weak transcription	Brain Angular Gyrus	brain
10	chr22:29198400-29209800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr22:29198400-29214000	Weak transcription	Colonic Mucosa	Colon
12	chr22:29198400-29214400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr22:29198400-29215600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr22:29198400-29225200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr22:29198600-29210600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr22:29198600-29211200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr22:29198600-29212600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr22:29198600-29214200	Weak transcription	Colon Smooth Muscle	Colon
19	chr22:29198600-29214400	Weak transcription	Aorta	Aorta
20	chr22:29198600-29214600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr22:29198600-29219400	Weak transcription	NHLF	lung
22	chr22:29198600-29225200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr22:29198600-29225200	Weak transcription	Osteobl	bone
24	chr22:29198600-29231400	Weak transcription	HSMMtube	muscle
25	chr22:29198800-29214200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr22:29198800-29214400	Weak transcription	Fetal Heart	heart
27	chr22:29198800-29230800	Weak transcription	NHEK	skin
28	chr22:29200600-29231400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr22:29204800-29214600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr22:29205000-29214200	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr22:29205200-29214400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr22:29205200-29218800	Weak transcription	Brain Hippocampus Middle	brain
33	chr22:29205400-29209000	Weak transcription	A549	lung
34	chr22:29205400-29217000	Weak transcription	Gastric	stomach
35	chr22:29205400-29225600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr22:29206200-29215600	Enhancers	Stomach Mucosa	stomach
37	chr22:29207000-29210200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr22:29207000-29213200	Enhancers	Pancreas	Pancrea
39	chr22:29207200-29209000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr22:29207200-29210200	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr22:29207200-29210400	Enhancers	Fetal Muscle Leg	muscle
42	chr22:29207400-29210000	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr22:29207400-29210800	Enhancers	Adipose Nuclei	Adipose
44	chr22:29207400-29212000	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr22:29207400-29214200	Weak transcription	Small Intestine	intestine
46	chr22:29207400-29214400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr22:29207600-29210000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr22:29207600-29210800	Enhancers	Primary hematopoietic stem cells	blood
49	chr22:29207600-29211200	Enhancers	Duodenum Mucosa	Duodenum
50	chr22:29207600-29211800	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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