Variant report

Variant	rs28386834
Chromosome Location	chr8:8758184-8758185
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	chr8:8751885..8754509-chr8:8756832..8758462,2	MCF-7	breast:
2	chr8:8749232..8754669-chr8:8756372..8762618,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147324	Chromatin interaction
ENSG00000200713	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10108122	1.00[AFR][1000 genomes]
rs12335261	0.87[AFR][1000 genomes]
rs28394201	0.87[AFR][1000 genomes]
rs28397721	0.87[AFR][1000 genomes]
rs28404653	0.87[AFR][1000 genomes]
rs28506901	0.87[AFR][1000 genomes]
rs28554768	0.87[AFR][1000 genomes]
rs28571273	0.87[AFR][1000 genomes]
rs28572443	0.87[AFR][1000 genomes]
rs28670938	0.87[AFR][1000 genomes]
rs28687128	0.87[AFR][1000 genomes]
rs28690563	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv995047	chr8:8353662-8857913	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv831228	chr8:8608387-8790790	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv1018828	chr8:8609880-8790660	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv1022331	chr8:8610035-8787981	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv610190	chr8:8744240-8766881	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	esv1838060	chr8:8749969-8765165	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	esv1814108	chr8:8749990-8769708	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv831229	chr8:8751523-8926235	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	nsv972228	chr8:8752697-8759027	Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8751600-8775000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:8751800-8759000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr8:8752200-8758200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr8:8752200-8759000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr8:8752800-8775000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr8:8755600-8759000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr8:8755600-8761200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:8755800-8758200	Weak transcription	Fetal Heart	heart
9	chr8:8755800-8761600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr8:8756000-8758200	Weak transcription	Fetal Lung	lung
11	chr8:8756400-8758200	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr8:8756400-8758400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr8:8756400-8758600	Enhancers	Primary T cells from cord blood	blood
14	chr8:8756600-8758400	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr8:8756800-8758200	Enhancers	Duodenum Mucosa	Duodenum
16	chr8:8756800-8758200	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr8:8757600-8758600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr8:8757600-8758800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr8:8757600-8759000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr8:8757600-8761800	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr8:8757600-8762200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr8:8757800-8758600	Enhancers	Small Intestine	intestine
23	chr8:8757800-8762400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr8:8758000-8758200	Enhancers	Aorta	Aorta
25	chr8:8758000-8758800	Enhancers	Brain Germinal Matrix	brain
26	chr8:8758000-8759000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr8:8758000-8759400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr8:8758000-8759600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr8:8758000-8760400	Weak transcription	Gastric	stomach

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