Variant report

Variant	rs73662250
Chromosome Location	chr8:8830829-8830830
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	chr8:8825033..8827497-chr8:8830401..8832914,2	K562	blood:
2	chr8:8829651..8832164-chr8:8833894..8836352,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs56014185	1.00[AMR][1000 genomes]
rs57915239	1.00[AMR][1000 genomes]
rs58957416	1.00[AMR][1000 genomes]
rs59294496	1.00[AMR][1000 genomes]
rs59472758	1.00[AMR][1000 genomes]
rs60082781	1.00[AMR][1000 genomes]
rs60519586	1.00[AMR][1000 genomes]
rs73662204	1.00[AMR][1000 genomes]
rs73662206	1.00[AMR][1000 genomes]
rs73662207	1.00[AMR][1000 genomes]
rs73662208	1.00[AMR][1000 genomes]
rs73662251	1.00[AMR][1000 genomes]
rs73662252	1.00[AMR][1000 genomes]
rs73662258	1.00[AMR][1000 genomes]
rs73662259	1.00[AMR][1000 genomes]
rs73662260	1.00[AMR][1000 genomes]
rs73662261	1.00[AMR][1000 genomes]
rs73662262	1.00[AMR][1000 genomes]
rs73662265	1.00[AMR][1000 genomes]
rs73662266	1.00[AMR][1000 genomes]
rs73662267	1.00[AMR][1000 genomes]
rs73662268	1.00[AMR][1000 genomes]
rs73662269	1.00[AMR][1000 genomes]
rs73662270	1.00[AMR][1000 genomes]
rs73662271	1.00[AMR][1000 genomes]
rs73662272	1.00[AMR][1000 genomes]
rs73662273	1.00[AMR][1000 genomes]
rs73662274	1.00[AMR][1000 genomes]
rs73662275	1.00[AMR][1000 genomes]
rs73662276	1.00[AMR][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	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	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
4	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
5	nsv1017238	chr8:8760138-8831662	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1026913	chr8:8773659-8838256	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv610205	chr8:8799111-8891644	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8811000-8836000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr8:8820800-8835400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr8:8821200-8835600	Weak transcription	Gastric	stomach
4	chr8:8821800-8831000	Weak transcription	Brain Anterior Caudate	brain
5	chr8:8826000-8831800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr8:8826400-8831400	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr8:8826800-8831200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr8:8828800-8831200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr8:8829400-8831400	Weak transcription	HepG2	liver
10	chr8:8830200-8831400	Enhancers	Fetal Stomach	stomach
11	chr8:8830200-8831600	Enhancers	Fetal Brain Male	brain
12	chr8:8830200-8832200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr8:8830200-8835000	Weak transcription	Liver	Liver
14	chr8:8830400-8831600	Enhancers	Brain Germinal Matrix	brain
15	chr8:8830400-8832200	Enhancers	K562	blood
16	chr8:8830600-8831000	Active TSS	Fetal Brain Female	brain
17	chr8:8830600-8831000	Enhancers	Fetal Lung	lung
18	chr8:8830600-8831400	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr8:8830600-8831800	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr8:8830600-8832200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:8830800-8831000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:8830800-8831200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr8:8830800-8831400	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr8:8830800-8831400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr8:8830800-8831400	Bivalent Enhancer	Fetal Muscle Leg	muscle
26	chr8:8830800-8831400	Enhancers	Dnd41	blood
27	chr8:8830800-8831600	Active TSS	Brain Angular Gyrus	brain

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