Variant report

Variant	rs60443509
Chromosome Location	chr8:19534898-19534899
allele	A/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	SP1	chr8:19534782-19536807	A549	lung:	n/a	n/a
2	NR3C1	chr8:19534713-19535231	A549	lung:	n/a	n/a
3	NR3C1	chr8:19534727-19535219	A549	lung:	n/a	n/a
4	EP300	chr8:19534830-19536765	A549	lung:	n/a	chr8:19536676-19536685
5	MAX	chr8:19534823-19537007	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:19534323..19537317-chr8:19613839..19616648,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253270	TF binding region
ENSG00000147408	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10464994	1.00[ASN][1000 genomes]
rs11989006	0.88[EUR][1000 genomes]
rs17128814	0.91[EUR][1000 genomes]
rs57167192	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58532780	0.88[EUR][1000 genomes]
rs60778959	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6985283	0.97[EUR][1000 genomes]
rs6989904	0.97[EUR][1000 genomes]
rs7012082	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7012089	0.95[AFR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949636	chr8:18957705-19664732	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv948861	chr8:19199688-19609029	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv949304	chr8:19199688-19625912	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv890627	chr8:19389865-19561997	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1021575	chr8:19430653-19623452	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv1025271	chr8:19435147-19574969	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv6106	chr8:19499554-19544249	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1021731	chr8:19515149-19643313	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv890628	chr8:19527536-19540966	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19520400-19539000	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr8:19520400-19539400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr8:19520400-19539600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr8:19520600-19538800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:19520600-19538800	Weak transcription	Esophagus	oesophagus
6	chr8:19520600-19538800	Weak transcription	Gastric	stomach
7	chr8:19523600-19538600	Weak transcription	Brain Anterior Caudate	brain
8	chr8:19523800-19540200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr8:19524200-19535200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:19524200-19539000	Weak transcription	Ovary	ovary
11	chr8:19525400-19538800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr8:19528400-19538400	Weak transcription	Fetal Heart	heart
13	chr8:19528600-19538600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr8:19528600-19540200	Weak transcription	Spleen	Spleen
15	chr8:19528800-19536200	Weak transcription	Right Ventricle	heart
16	chr8:19528800-19538800	Weak transcription	Lung	lung
17	chr8:19530600-19538400	Weak transcription	Primary B cells from peripheral blood	blood
18	chr8:19531000-19538400	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr8:19531200-19538600	Weak transcription	Brain Hippocampus Middle	brain
20	chr8:19532000-19539200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr8:19532400-19536600	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr8:19533000-19535200	Enhancers	Right Atrium	heart
23	chr8:19533400-19537800	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr8:19533400-19538000	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr8:19533600-19538600	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr8:19533800-19539000	Weak transcription	Thymus	Thymus
27	chr8:19534000-19536600	Enhancers	Placenta	Placenta
28	chr8:19534200-19535800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr8:19534400-19536200	Weak transcription	Pancreas	Pancrea
30	chr8:19534400-19536800	Enhancers	HUVEC	blood vessel
31	chr8:19534400-19539000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr8:19534600-19535200	Enhancers	A549	lung
33	chr8:19534600-19535800	Enhancers	Osteobl	bone
34	chr8:19534600-19536000	Weak transcription	Primary B cells from cord blood	blood
35	chr8:19534600-19536400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr8:19534600-19539200	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr8:19534800-19535200	Enhancers	Left Ventricle	heart
38	chr8:19534800-19536400	Flanking Active TSS	Hela-S3	cervix
39	chr8:19534800-19538800	Weak transcription	Primary T cells from cord blood	blood

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