Variant report

Variant	rs34505570
Chromosome Location	chr1:222987359-222987360
allele	C/G
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	MXI1	chr1:222987238-222990528	SK-N-SH	brain:	n/a	n/a
2	GATA2	chr1:222987321-222988749	SH-SY5Y	brain:	n/a	chr1:222988075-222988084 chr1:222988211-222988219
3	JUND	chr1:222987267-222987524	HepG2	liver:	n/a	chr1:222987403-222987414 chr1:222987406-222987417 chr1:222987404-222987414 chr1:222987405-222987414 chr1:222987405-222987412 chr1:222987404-222987415
4	KAP1	chr1:222987004-222989161	U2OS	brain:	n/a	chr1:222988078-222988087
5	JUN	chr1:222987320-222987465	HepG2	liver:	n/a	chr1:222987406-222987417 chr1:222987404-222987414 chr1:222987405-222987414 chr1:222987405-222987412 chr1:222987404-222987415
6	MAFK	chr1:222987331-222987430	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:222986729..222989819-chr1:223001002..223005734,5	MCF-7	breast:
2	chr1:222980666..222982501-chr1:222985818..222988302,2	K562	blood:

Variant related genes	Relation type
DISP1	TF binding region
ENSG00000228106	TF binding region
ENSG00000228106	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10495202	0.94[EUR][1000 genomes]
rs1132369	0.94[EUR][1000 genomes]
rs1132371	0.94[EUR][1000 genomes]
rs17475431	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17475753	0.94[EUR][1000 genomes]
rs17475774	0.94[EUR][1000 genomes]
rs17534704	0.94[EUR][1000 genomes]
rs17534774	0.92[EUR][1000 genomes]
rs17535004	0.94[EUR][1000 genomes]
rs17535032	0.93[EUR][1000 genomes]
rs17535137	0.94[EUR][1000 genomes]
rs2378600	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28362013	0.91[ASN][1000 genomes]
rs34096996	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34139393	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34151467	0.94[EUR][1000 genomes]
rs34225287	0.94[EUR][1000 genomes]
rs34229647	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34277924	0.94[EUR][1000 genomes]
rs34282641	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34299243	0.94[EUR][1000 genomes]
rs34300028	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34651530	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs34690779	0.94[EUR][1000 genomes]
rs34713681	0.94[EUR][1000 genomes]
rs34755094	0.94[EUR][1000 genomes]
rs34761499	0.94[EUR][1000 genomes]
rs34791822	0.94[EUR][1000 genomes]
rs34804073	0.94[EUR][1000 genomes]
rs34830798	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34893395	0.94[EUR][1000 genomes]
rs34898792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34950986	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35131473	0.94[EUR][1000 genomes]
rs35197173	0.96[EUR][1000 genomes]
rs35270311	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35270996	0.87[EUR][1000 genomes]
rs35283922	0.94[EUR][1000 genomes]
rs35356885	0.94[EUR][1000 genomes]
rs35399857	0.94[EUR][1000 genomes]
rs35497286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35591569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35756512	0.94[EUR][1000 genomes]
rs35787799	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36032255	0.94[EUR][1000 genomes]
rs36066427	0.94[EUR][1000 genomes]
rs36083483	0.91[ASN][1000 genomes]
rs36090356	0.93[EUR][1000 genomes]
rs4609435	0.91[ASN][1000 genomes]
rs61838099	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61838105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61838107	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61838112	0.91[ASN][1000 genomes]
rs61838113	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61838114	0.91[ASN][1000 genomes]
rs61838115	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61838118	0.94[EUR][1000 genomes]
rs61838119	0.94[EUR][1000 genomes]
rs61839587	0.94[EUR][1000 genomes]
rs61839588	0.94[EUR][1000 genomes]
rs61839600	0.94[EUR][1000 genomes]
rs61839601	0.93[EUR][1000 genomes]
rs61839602	0.93[EUR][1000 genomes]
rs71644708	0.94[EUR][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	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv873206	chr1:222985197-223124916	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222958800-222987800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:222983600-222987800	Enhancers	HepG2	liver
3	chr1:222986400-222987800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:222986400-222987800	Enhancers	NHLF	lung
5	chr1:222986600-222987400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:222986600-222988000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:222986800-222987400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:222986800-222987400	Enhancers	Osteobl	bone
9	chr1:222986800-222987600	Enhancers	Fetal Intestine Small	intestine
10	chr1:222986800-222987600	Enhancers	NHDF-Ad	bronchial
11	chr1:222987000-222987400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:222987000-222987600	Enhancers	Fetal Intestine Large	intestine
13	chr1:222987000-222987600	Enhancers	Hela-S3	cervix
14	chr1:222987200-222987400	Enhancers	Adipose Nuclei	Adipose
15	chr1:222987200-222987400	Enhancers	Fetal Kidney	kidney
16	chr1:222987200-222987400	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr1:222987200-222987600	Enhancers	Colon Smooth Muscle	Colon
18	chr1:222987200-222987600	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr1:222987200-222987600	Enhancers	Rectal Smooth Muscle	rectum
20	chr1:222987200-222987800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:222987200-222987800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr1:222987200-222987800	Enhancers	Fetal Muscle Leg	muscle
23	chr1:222987200-222987800	Enhancers	Psoas Muscle	Psoas
24	chr1:222987200-222987800	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr1:222987200-222987800	Enhancers	HSMM	muscle
26	chr1:222987200-222987800	Enhancers	HSMMtube	muscle
27	chr1:222987200-222987800	Enhancers	HUVEC	blood vessel
28	chr1:222987200-222988000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:222987200-222988000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:222987200-222988000	Enhancers	Small Intestine	intestine
31	chr1:222987200-222988200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr1:222987200-222988200	Flanking Active TSS	NH-A	brain

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