Variant report

Variant	rs73524213
Chromosome Location	chr8:8870486-8870487
allele	A/G
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	chr8:8863320-8872107	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:8859811..8861702-chr8:8869833..8872508,3	MCF-7	breast:
2	chr8:8859472..8863506-chr8:8866779..8870820,4	MCF-7	breast:
3	chr8:8859158..8867027-chr8:8867199..8874373,17	K562	blood:

Variant related genes	Relation type
ERI1	TF binding region
ENSG00000104626	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11984720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11990376	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11990446	1.00[AMR][1000 genomes]
rs11994497	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17154990	1.00[AMR][1000 genomes]
rs17155102	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56373388	1.00[AMR][1000 genomes]
rs57259163	1.00[AMR][1000 genomes]
rs58797442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59137033	1.00[AMR][1000 genomes]
rs61730229	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6983343	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7007282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73518367	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73518386	1.00[AMR][1000 genomes]
rs73522591	1.00[AMR][1000 genomes]
rs73522596	1.00[AMR][1000 genomes]
rs73524091	1.00[AMR][1000 genomes]
rs73524209	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73524221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73524263	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73524268	1.00[AMR][1000 genomes]
rs73526008	1.00[AMR][1000 genomes]
rs7824053	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7839186	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	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
3	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
4	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
5	nsv1022468	chr8:8857853-9209167	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv539460	chr8:8857853-9209167	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8861200-8892400	Weak transcription	Aorta	Aorta
2	chr8:8861400-8907000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:8861600-8870600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:8861600-8876200	Weak transcription	Esophagus	oesophagus
5	chr8:8861600-8878600	Weak transcription	Colon Smooth Muscle	Colon
6	chr8:8861600-8885600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:8861800-8870600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:8861800-8870600	Weak transcription	Thymus	Thymus
9	chr8:8861800-8871000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr8:8861800-8871000	Weak transcription	HSMMtube	muscle
11	chr8:8861800-8871400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr8:8861800-8871600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr8:8861800-8874800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr8:8861800-8875000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr8:8861800-8875000	Weak transcription	Gastric	stomach
16	chr8:8861800-8877800	Weak transcription	Right Ventricle	heart
17	chr8:8861800-8881800	Weak transcription	Fetal Kidney	kidney
18	chr8:8861800-8883400	Weak transcription	Spleen	Spleen
19	chr8:8861800-8883600	Weak transcription	Small Intestine	intestine
20	chr8:8861800-8885200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr8:8861800-8887200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr8:8861800-8887400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr8:8861800-8890000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr8:8861800-8891400	Weak transcription	Brain Angular Gyrus	brain
25	chr8:8861800-8891800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr8:8861800-8892000	Weak transcription	Brain Anterior Caudate	brain
27	chr8:8861800-8892200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr8:8861800-8892200	Weak transcription	Ovary	ovary
29	chr8:8861800-8893800	Weak transcription	Fetal Brain Male	brain
30	chr8:8861800-8897800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr8:8861800-8915600	Weak transcription	Pancreas	Pancrea
32	chr8:8862200-8870600	Weak transcription	Left Ventricle	heart
33	chr8:8862200-8870600	Weak transcription	Lung	lung
34	chr8:8862400-8874400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:8863400-8870800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr8:8864400-8870800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr8:8864600-8871000	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr8:8864600-8871200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr8:8865000-8871600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr8:8865200-8871000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr8:8865400-8870800	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr8:8865400-8871000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr8:8865400-8872000	Strong transcription	Dnd41	blood
44	chr8:8865400-8878800	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr8:8865400-8886000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr8:8865600-8870800	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr8:8865800-8870800	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr8:8865800-8871000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr8:8865800-8879600	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr8:8866200-8871600	Strong transcription	Primary B cells from peripheral blood	blood

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