Variant report

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SP1	chr8:39853118-39853599	A549	lung:	n/a	n/a
2	RAD21	chr8:39853215-39853581	IMR90	lung:	n/a	n/a
3	CTCF	chr8:39853112-39853639	A549	lung:	n/a	n/a
4	RAD21	chr8:39853181-39853597	HCT-116	colon:	n/a	n/a
5	CTCF	chr8:39853190-39853579	GM12878	blood:	n/a	n/a
6	ZNF384	chr8:39853255-39853587	K562	blood:	n/a	n/a
7	CTCF	chr8:39853024-39853745	A549	lung:	n/a	n/a
8	RAD21	chr8:39853165-39853677	A549	lung:	n/a	n/a
9	EBF1	chr8:39853554-39853760	GM12878	blood:	n/a	n/a
10	RAD21	chr8:39853189-39853728	SK-N-SH	brain:	n/a	n/a
11	SMC3	chr8:39853083-39853563	SK-N-SH	brain:	n/a	n/a
12	RAD21	chr8:39853220-39853576	GM12878	blood:	n/a	n/a
13	JUND	chr8:39853257-39853577	A549	lung:	n/a	n/a
14	CTCF	chr8:39853264-39853640	MCF-7	breast:	n/a	n/a
15	RAD21	chr8:39853209-39853577	H1-hESC	embryonic stem cell:	n/a	n/a
16	RAD21	chr8:39853199-39853626	H1-hESC	embryonic stem cell:	n/a	n/a
17	PAX5	chr8:39853557-39853850	GM12878	blood:	n/a	n/a
18	CTCF	chr8:39852978-39853668	SK-N-SH	brain:	n/a	n/a
19	CTCF	chr8:39853151-39853714	K562	blood:	n/a	n/a
20	RAD21	chr8:39853205-39853595	Hela-S3	cervix:	n/a	n/a
21	SMC3	chr8:39853211-39853588	Hela-S3	cervix:	n/a	n/a
22	RUNX3	chr8:39853195-39853576	GM12878	blood:	n/a	n/a
23	RAD21	chr8:39853221-39853585	SK-N-SH_RA	brain:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:39853349..39853905-chr8:40004066..40004635,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000253939	TF binding region

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10104711	0.92[ASN][1000 genomes]
rs1362850	0.87[ASN][1000 genomes]
rs2015592	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2015859	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2543072	0.82[ASN][1000 genomes]
rs2543077	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2543079	0.87[ASN][1000 genomes]
rs2543080	0.87[ASN][1000 genomes]
rs2729478	0.82[ASN][1000 genomes]
rs2729482	0.92[ASN][1000 genomes]
rs2981150	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs888443	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs888444	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv539555	chr8:39683857-40673606	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1033371	chr8:39749437-39899540	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39835200-39853600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:39847600-39853600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr8:39847800-39854800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:39849800-39853600	Weak transcription	Fetal Muscle Leg	muscle
5	chr8:39850600-39872800	Weak transcription	Right Atrium	heart
6	chr8:39851200-39853600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr8:39851200-39853600	Weak transcription	A549	lung
8	chr8:39851400-39853800	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr8:39851400-39856000	Weak transcription	Colon Smooth Muscle	Colon
10	chr8:39852200-39853600	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr8:39853000-39854000	Enhancers	Lung	lung
12	chr8:39853400-39853800	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr8:39853400-39853800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr8:39853400-39853800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
15	chr8:39853400-39854600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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