Variant report

Variant	rs12548579
Chromosome Location	chr8:40016159-40016160
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	SMC3	chr8:40015926-40017210	Hela-S3	cervix:	n/a	n/a
2	EP300	chr8:40016064-40017421	A549	lung:	n/a	n/a
3	BRCA1	chr8:40016128-40017278	Hela-S3	cervix:	n/a	chr8:40017252-40017259
4	BCL3	chr8:40016018-40017320	A549	lung:	n/a	n/a
5	EP300	chr8:40015987-40017547	A549	lung:	n/a	chr8:40016024-40016038
6	SP1	chr8:40015727-40017651	A549	lung:	n/a	n/a
7	EP300	chr8:40016156-40017245	SK-N-SH	brain:	n/a	n/a
8	CEBPB	chr8:40016001-40017247	Hela-S3	cervix:	n/a	chr8:40016092-40016103 chr8:40016092-40016103 chr8:40016090-40016103
9	CEBPB	chr8:40016024-40017166	A549	lung:	n/a	chr8:40016092-40016103 chr8:40016092-40016103 chr8:40016090-40016103
10	TCF12	chr8:40016105-40017233	SK-N-SH	brain:	n/a	n/a
11	RCOR1	chr8:40016144-40017180	Hela-S3	cervix:	n/a	n/a
12	MAX	chr8:40016123-40017403	A549	lung:	n/a	n/a
13	GATA3	chr8:40016154-40017288	SK-N-SH	brain:	n/a	chr8:40016849-40016865 chr8:40016694-40016702 chr8:40016849-40016865 chr8:40017196-40017203
14	GATA3	chr8:40015945-40017485	A549	lung:	n/a	chr8:40016849-40016865 chr8:40016694-40016702 chr8:40016849-40016865 chr8:40017196-40017203 chr8:40016009-40016026
15	SP1	chr8:40016086-40017691	A549	lung:	n/a	n/a
16	FOSL2	chr8:40015743-40017628	A549	lung:	n/a	n/a
17	SIX5	chr8:40015996-40017912	A549	lung:	n/a	n/a
18	GATA3	chr8:40016010-40017297	SK-N-SH	brain:	n/a	chr8:40016849-40016865 chr8:40016694-40016702 chr8:40016849-40016865 chr8:40017196-40017203
19	TCF12	chr8:40015640-40017654	A549	lung:	n/a	n/a
20	BCL3	chr8:40016083-40017188	A549	lung:	n/a	n/a
21	REST	chr8:40016019-40017539	A549	lung:	n/a	n/a
22	CEBPB	chr8:40016153-40017372	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:40008119..40011092-chr8:40014440..40016891,2	K562	blood:
2	chr8:40014106..40017606-chr8:40052102..40057551,6	MCF-7	breast:
3	chr8:39976602..39978304-chr8:40014448..40017258,2	MCF-7	breast:
4	chr8:40014566..40017539-chr8:40018281..40021188,2	K562	blood:
5	chr8:39895604..39898278-chr8:40014313..40017201,2	MCF-7	breast:
6	chr8:40015129..40018578-chr8:40030188..40033352,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254143	TF binding region
ENSG00000254143	Chromatin interaction
ENSG00000176907	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10103059	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11780250	0.89[ASN][1000 genomes]
rs12541392	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12546288	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28398043	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28687838	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4398898	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6983906	0.94[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	nsv534582	chr8:39884590-40653224	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:40010800-40016400	Weak transcription	Stomach Mucosa	stomach
2	chr8:40011200-40016200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:40011200-40022600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:40011400-40020000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:40011600-40016400	Weak transcription	HSMM	muscle
6	chr8:40013600-40016400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr8:40013600-40016400	Weak transcription	NH-A	brain
8	chr8:40013600-40031600	Weak transcription	Right Ventricle	heart
9	chr8:40013800-40016400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:40013800-40019600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:40013800-40020200	Enhancers	HepG2	liver
12	chr8:40014000-40017600	Enhancers	HUVEC	blood vessel
13	chr8:40014200-40016200	Weak transcription	NHLF	lung
14	chr8:40014800-40017200	Enhancers	Colon Smooth Muscle	Colon
15	chr8:40014800-40028600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr8:40015000-40017400	Weak transcription	Fetal Intestine Large	intestine
17	chr8:40015000-40019800	Weak transcription	Fetal Kidney	kidney
18	chr8:40015200-40016200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr8:40015200-40016400	Weak transcription	Pancreas	Pancrea
20	chr8:40015200-40016400	Enhancers	Hela-S3	cervix
21	chr8:40015200-40017000	Enhancers	A549	lung
22	chr8:40015200-40017200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr8:40015200-40021800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr8:40015200-40024800	Weak transcription	Spleen	Spleen
25	chr8:40015200-40029200	Weak transcription	Right Atrium	heart
26	chr8:40015400-40016400	Weak transcription	Fetal Lung	lung
27	chr8:40015400-40016400	Weak transcription	Stomach Smooth Muscle	stomach
28	chr8:40015400-40017200	Enhancers	Placenta Amnion	Placenta Amnion
29	chr8:40015400-40029000	Weak transcription	Fetal Brain Male	brain
30	chr8:40015600-40017000	Weak transcription	Fetal Muscle Trunk	muscle
31	chr8:40015600-40019800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr8:40015600-40022800	Weak transcription	Lung	lung
33	chr8:40015800-40016400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr8:40015800-40016800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:40015800-40017000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr8:40015800-40017000	Weak transcription	Left Ventricle	heart

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