Variant report

Variant	rs60617901
Chromosome Location	chr8:61856486-61856487
allele	C/T
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	EP300	chr8:61856369-61856598	SK-N-SH_RA	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:61853213..61856894-chr8:61860542..61864181,3	MCF-7	breast:
2	chr8:61837800..61840133-chr8:61855900..61858739,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255397	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11780497	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11785002	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11785004	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11785767	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12547094	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs12547875	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1982638	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs36022290	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4515540	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55664709	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs55818355	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61118409	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6982364	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs72652563	0.86[AMR][1000 genomes]
rs72652564	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs72652569	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72652573	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72652574	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv526196	chr8:61593569-61877623	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer 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
3	esv1795586	chr8:61733174-61863906	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv429919	chr8:61771472-61979873	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv890947	chr8:61815886-61882751	Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv948922	chr8:61818964-62475097	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv890948	chr8:61844766-61954970	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61844400-61858200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr8:61847600-61857000	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr8:61847800-61857000	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr8:61852200-61857200	Weak transcription	Primary T cells from cord blood	blood
5	chr8:61852600-61858200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr8:61852800-61856800	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr8:61854400-61857600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr8:61854800-61859200	Enhancers	Fetal Muscle Leg	muscle
9	chr8:61855400-61858800	Enhancers	Fetal Muscle Trunk	muscle
10	chr8:61855400-61860600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:61855600-61857000	Enhancers	Left Ventricle	heart
12	chr8:61855600-61857600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr8:61855600-61858400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr8:61855800-61856600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr8:61855800-61857600	Enhancers	HSMMtube	muscle
16	chr8:61855800-61859200	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr8:61855800-61862200	Enhancers	Brain Hippocampus Middle	brain
18	chr8:61855800-61862400	Enhancers	Brain Anterior Caudate	brain
19	chr8:61856000-61856800	Enhancers	Fetal Kidney	kidney
20	chr8:61856000-61857600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
21	chr8:61856000-61858000	Enhancers	Pancreas	Pancrea
22	chr8:61856000-61858200	Enhancers	Liver	Liver
23	chr8:61856000-61858800	Enhancers	Brain Cingulate Gyrus	brain
24	chr8:61856000-61858800	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr8:61856000-61859400	Enhancers	Primary B cells from peripheral blood	blood
26	chr8:61856000-61862200	Enhancers	HepG2	liver
27	chr8:61856000-61863000	Enhancers	Fetal Thymus	thymus
28	chr8:61856000-61863400	Enhancers	Brain Substantia Nigra	brain
29	chr8:61856200-61856600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:61856200-61856600	Enhancers	Fetal Intestine Small	intestine
31	chr8:61856200-61857000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:61856200-61857000	Enhancers	Lung	lung
33	chr8:61856200-61857000	Enhancers	Psoas Muscle	Psoas
34	chr8:61856200-61857200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr8:61856200-61857200	Enhancers	Fetal Lung	lung
36	chr8:61856200-61857200	Enhancers	Right Ventricle	heart
37	chr8:61856200-61857400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr8:61856200-61857400	Enhancers	Fetal Heart	heart
39	chr8:61856200-61857800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr8:61856200-61857800	Enhancers	Fetal Stomach	stomach
41	chr8:61856200-61857800	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr8:61856200-61859000	Enhancers	GM12878-XiMat	blood
43	chr8:61856200-61862000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr8:61856200-61863600	Enhancers	Primary B cells from cord blood	blood
45	chr8:61856400-61856600	Enhancers	Adipose Nuclei	Adipose
46	chr8:61856400-61856600	Flanking Active TSS	HSMM	muscle
47	chr8:61856400-61857600	Enhancers	Stomach Mucosa	stomach
48	chr8:61856400-61857800	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr8:61856400-61862600	Weak transcription	Right Atrium	heart
50	chr8:61856400-61862800	Weak transcription	Spleen	Spleen

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