Variant report

Variant	rs28366544
Chromosome Location	chr8:8240003-8240004
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	POLR2A	chr8:8238449-8240838	HepG2	liver:	n/a	n/a
2	POLR2A	chr8:8238700-8244933	HepG2	liver:	n/a	n/a
3	POLR2A	chr8:8239666-8240516	GM12878	blood:	n/a	n/a
4	POLR2A	chr8:8239494-8240485	GM12878	blood:	n/a	n/a
5	POLR2A	chr8:8239865-8240435	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:8235042..8240063-chr8:8240771..8244973,7	MCF-7	breast:
2	chr8:8239788..8242444-chr8:8287010..8288532,2	MCF-7	breast:
3	chr8:8238437..8240547-chr8:8242096..8244614,4	K562	blood:

Variant related genes	Relation type
ENSG00000182319	TF binding region
ENSG00000182319	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10091926	1.00[ASN][1000 genomes]
rs10092809	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28420102	1.00[AMR][1000 genomes]
rs28665556	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817196	chr8:8079861-8255544	Weak transcription Genic enhancers Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv465448	chr8:8098079-8403142	Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv610152	chr8:8098079-8403142	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv610153	chr8:8098079-8454531	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv610154	chr8:8101641-8328101	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv1032259	chr8:8108863-8247113	Strong transcription Active TSS Weak transcription Enhancers 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	14 gene(s)	inside rSNPs	diseases
8	nsv1020290	chr8:8108863-8260280	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv539440	chr8:8108863-8260280	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv1025994	chr8:8108863-8580201	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	nsv1029268	chr8:8130629-8403435	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv539446	chr8:8130629-8403435	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv1030433	chr8:8130629-8653691	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
14	nsv539447	chr8:8130629-8653691	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
15	nsv831227	chr8:8204838-8367160	Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	nsv1033463	chr8:8221922-8674333	Weak transcription Bivalent/Poised TSS Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription 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	21 gene(s)	inside rSNPs	diseases
17	nsv539451	chr8:8221922-8674333	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
18	nsv1019613	chr8:8239352-8636357	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
19	nsv539452	chr8:8239352-8636357	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8220400-8241800	Weak transcription	NHDF-Ad	bronchial
2	chr8:8222000-8240600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:8222600-8240200	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr8:8222600-8240400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr8:8229600-8240400	Strong transcription	Primary B cells from cord blood	blood
6	chr8:8230200-8241600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr8:8232000-8240800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:8232000-8241200	Weak transcription	Psoas Muscle	Psoas
9	chr8:8233200-8240400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr8:8233600-8241000	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr8:8233800-8240200	Strong transcription	HSMM	muscle
12	chr8:8234000-8240200	Strong transcription	Primary B cells from peripheral blood	blood
13	chr8:8234000-8240200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr8:8234000-8241200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr8:8234000-8241200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr8:8234000-8241400	Weak transcription	Hela-S3	cervix
17	chr8:8234200-8240200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr8:8234400-8241200	Weak transcription	Fetal Thymus	thymus
19	chr8:8234800-8240400	Weak transcription	Dnd41	blood
20	chr8:8234800-8241200	Weak transcription	Brain Substantia Nigra	brain
21	chr8:8235000-8241600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr8:8235600-8241400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr8:8236000-8241400	Weak transcription	Gastric	stomach
24	chr8:8236000-8241400	Weak transcription	Ovary	ovary
25	chr8:8236200-8242600	Weak transcription	Aorta	Aorta
26	chr8:8237000-8241200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr8:8237000-8241200	Weak transcription	Right Atrium	heart
28	chr8:8237200-8240600	Strong transcription	NH-A	brain
29	chr8:8237400-8241200	Weak transcription	Thymus	Thymus
30	chr8:8237400-8241400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:8237400-8241400	Weak transcription	Brain Hippocampus Middle	brain
32	chr8:8237400-8241400	Weak transcription	Esophagus	oesophagus
33	chr8:8237400-8241800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr8:8237400-8242200	Weak transcription	Liver	Liver
35	chr8:8237600-8240200	Weak transcription	Fetal Brain Female	brain
36	chr8:8237600-8240400	Weak transcription	Brain Anterior Caudate	brain
37	chr8:8237600-8240600	Strong transcription	Osteobl	bone
38	chr8:8237600-8241200	Weak transcription	Brain Angular Gyrus	brain
39	chr8:8237600-8241200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr8:8237600-8241200	Weak transcription	NHLF	lung
41	chr8:8237800-8241200	Weak transcription	Primary hematopoietic stem cells	blood
42	chr8:8237800-8241200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr8:8237800-8241200	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr8:8238200-8241400	Weak transcription	Brain Cingulate Gyrus	brain
45	chr8:8238400-8241000	Genic enhancers	NHEK	skin
46	chr8:8238400-8241400	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr8:8238600-8241400	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr8:8238800-8240200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr8:8238800-8240200	Genic enhancers	Fetal Lung	lung
50	chr8:8238800-8241800	Transcr. at gene 5' and 3'	A549	lung

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