Variant report

Variant	rs72675242
Chromosome Location	chr8:98913979-98913980
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:98903943..98905489-chr8:98912302..98914031,2	MCF-7	breast:
2	chr8:98876836..98878595-chr8:98913949..98915978,2	K562	blood:

Variant related genes	Relation type
ENSG00000243504	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs4734378	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735508	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72675237	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72675238	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72675240	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72675251	0.92[EUR][1000 genomes]
rs72675254	0.92[EUR][1000 genomes]
rs72675259	0.87[EUR][1000 genomes]
rs753800	0.92[EUR][1000 genomes]
rs764568	0.81[EUR][1000 genomes]
rs930817	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:98882400-98914800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:98884200-98915000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr8:98884200-98915000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr8:98892000-98915200	Weak transcription	Colonic Mucosa	Colon
5	chr8:98892000-98918800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr8:98894000-98918600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr8:98898800-98917600	Weak transcription	Adipose Nuclei	Adipose
8	chr8:98899800-98915000	Weak transcription	Liver	Liver
9	chr8:98900400-98914400	Weak transcription	Pancreas	Pancrea
10	chr8:98903400-98918200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr8:98903600-98918400	Weak transcription	Brain Substantia Nigra	brain
12	chr8:98903600-98924200	Weak transcription	Fetal Kidney	kidney
13	chr8:98904000-98927600	Weak transcription	Esophagus	oesophagus
14	chr8:98905400-98918400	Weak transcription	Brain Hippocampus Middle	brain
15	chr8:98907800-98915000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr8:98909200-98916200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr8:98909400-98915000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr8:98910000-98921200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr8:98912000-98916000	Strong transcription	Ovary	ovary
20	chr8:98912400-98914000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr8:98912400-98915000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr8:98912800-98917200	Weak transcription	Fetal Intestine Small	intestine
23	chr8:98913200-98914000	ZNF genes & repeats	Fetal Muscle Leg	muscle
24	chr8:98913200-98914400	ZNF genes & repeats	Fetal Stomach	stomach
25	chr8:98913400-98923200	Weak transcription	Fetal Muscle Trunk	muscle
26	chr8:98913600-98914000	ZNF genes & repeats	Fetal Lung	lung
27	chr8:98913600-98914200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
28	chr8:98913800-98914000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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