Variant report

Variant	rs28504529
Chromosome Location	chr8:98969060-98969061
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:98966806..98971038-chr8:98972037..98974632,4	K562	blood:
2	chr8:98968508..98970567-chr8:98972102..98974220,2	K562	blood:

Variant related genes	Relation type
ENSG00000132561	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10088117	1.00[AMR][1000 genomes]
rs10096266	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10101541	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10106409	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10108147	1.00[AMR][1000 genomes]
rs10109972	1.00[AMR][1000 genomes]
rs12334735	1.00[AMR][1000 genomes]
rs13439751	1.00[AMR][1000 genomes]
rs28729963	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56060615	1.00[AMR][1000 genomes]
rs59103107	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73701228	1.00[AMR][1000 genomes]
rs73701230	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv1028055	chr8:98780445-98977746	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS 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	26 gene(s)	inside rSNPs	diseases
4	nsv891214	chr8:98849303-98990399	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv891215	chr8:98910287-98980663	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv528695	chr8:98960813-99022009	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:98938200-98969200	Weak transcription	Colonic Mucosa	Colon
2	chr8:98945600-98970200	Weak transcription	Spleen	Spleen
3	chr8:98956600-98973600	Weak transcription	Duodenum Mucosa	Duodenum
4	chr8:98957200-98970800	Weak transcription	Colon Smooth Muscle	Colon
5	chr8:98957200-98973600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr8:98957800-98969200	Weak transcription	Left Ventricle	heart
7	chr8:98963400-98976000	Weak transcription	Fetal Brain Male	brain
8	chr8:98963800-98970600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr8:98963800-98975200	Weak transcription	Placenta	Placenta
10	chr8:98964600-98970800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr8:98964800-98970800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr8:98964800-98976400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr8:98965000-98969200	Weak transcription	Fetal Lung	lung
14	chr8:98965000-98969400	Weak transcription	Brain Angular Gyrus	brain
15	chr8:98965000-98973600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr8:98965000-98980200	Weak transcription	Liver	Liver
17	chr8:98965200-98969200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr8:98965600-98970400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:98965600-98983200	Weak transcription	NHLF	lung
20	chr8:98966600-98971000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr8:98966800-98969200	Weak transcription	Brain Hippocampus Middle	brain
22	chr8:98967000-98969200	Weak transcription	Brain Anterior Caudate	brain
23	chr8:98968000-98976200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr8:98968200-98969200	Weak transcription	Right Atrium	heart
25	chr8:98968200-98976200	Weak transcription	Gastric	stomach
26	chr8:98968200-98993800	Weak transcription	Esophagus	oesophagus
27	chr8:98968400-98973600	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr8:98968400-98973600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr8:98968600-98971400	Enhancers	Fetal Stomach	stomach
30	chr8:98968800-98969200	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr8:98968800-98969200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
32	chr8:98968800-98970000	Enhancers	Fetal Kidney	kidney
33	chr8:98968800-98970000	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr8:98968800-98970200	Enhancers	Brain Substantia Nigra	brain
35	chr8:98968800-98970600	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr8:98968800-98970600	Enhancers	Fetal Muscle Trunk	muscle
37	chr8:98968800-98971200	Enhancers	Ovary	ovary
38	chr8:98968800-98971600	Enhancers	Fetal Muscle Leg	muscle
39	chr8:98969000-98969200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:98969000-98969200	Enhancers	Stomach Mucosa	stomach
41	chr8:98969000-98969400	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr8:98969000-98969800	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr8:98969000-98969800	Enhancers	Brain Cingulate Gyrus	brain
44	chr8:98969000-98970000	Enhancers	Right Ventricle	heart
45	chr8:98969000-98970000	Enhancers	NHDF-Ad	bronchial
46	chr8:98969000-98970200	Enhancers	Rectal Smooth Muscle	rectum
47	chr8:98969000-98971600	Enhancers	Adipose Nuclei	Adipose

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