Variant report

Variant	rs73662275
Chromosome Location	chr8:8868434-8868435
allele	C/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	IRF1	chr8:8867307-8870229	K562	blood:	n/a	chr8:8867842-8867853 chr8:8869776-8869785 chr8:8868594-8868614 chr8:8868056-8868070 chr8:8869777-8869786 chr8:8868054-8868068 chr8:8869449-8869460
2	POLR2A	chr8:8863320-8872107	K562	blood:	n/a	n/a
3	ARID3A	chr8:8867235-8868859	K562	blood:	n/a	chr8:8868132-8868148
4	EP300	chr8:8867750-8868613	K562	blood:	n/a	chr8:8867869-8867876 chr8:8868054-8868068 chr8:8868161-8868175

No.	Distal block	Cell Line	Cell type
1	chr8:8866297..8868833-chr8:8887524..8890339,2	K562	blood:
2	chr8:8859707..8862059-chr8:8864809..8869173,3	MCF-7	breast:
3	chr8:8865815..8868518-chr8:8878395..8880602,2	K562	blood:
4	chr8:8859472..8863506-chr8:8866779..8870820,4	MCF-7	breast:
5	chr8:8866252..8868654-chr8:8871206..8873425,2	MCF-7	breast:
6	chr8:8859158..8867027-chr8:8867199..8874373,17	K562	blood:
7	chr8:8748349..8752697-chr8:8864961..8869329,4	K562	blood:

Variant related genes	Relation type
ERI1	TF binding region
ENSG00000104626	Chromatin interaction
ENSG00000147324	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs55745362	0.83[AFR][1000 genomes]
rs56014185	1.00[AMR][1000 genomes]
rs57915239	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58957416	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59294496	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59472758	0.91[AFR][1000 genomes];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]
rs73662250	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[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73662272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73662273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73662274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73662276	1.00[AFR][1000 genomes];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:121 , 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	chr8:8861800-8869000	Weak transcription	Fetal Intestine Small	intestine
8	chr8:8861800-8870400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:8861800-8870400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr8:8861800-8870400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr8:8861800-8870400	Weak transcription	Fetal Stomach	stomach
12	chr8:8861800-8870400	Weak transcription	Psoas Muscle	Psoas
13	chr8:8861800-8870600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr8:8861800-8870600	Weak transcription	Thymus	Thymus
15	chr8:8861800-8871000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr8:8861800-8871000	Weak transcription	HSMMtube	muscle
17	chr8:8861800-8871400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr8:8861800-8871600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr8:8861800-8874800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr8:8861800-8875000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr8:8861800-8875000	Weak transcription	Gastric	stomach
22	chr8:8861800-8877800	Weak transcription	Right Ventricle	heart
23	chr8:8861800-8881800	Weak transcription	Fetal Kidney	kidney
24	chr8:8861800-8883400	Weak transcription	Spleen	Spleen
25	chr8:8861800-8883600	Weak transcription	Small Intestine	intestine
26	chr8:8861800-8885200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr8:8861800-8887200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr8:8861800-8887400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr8:8861800-8890000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr8:8861800-8891400	Weak transcription	Brain Angular Gyrus	brain
31	chr8:8861800-8891800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr8:8861800-8892000	Weak transcription	Brain Anterior Caudate	brain
33	chr8:8861800-8892200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr8:8861800-8892200	Weak transcription	Ovary	ovary
35	chr8:8861800-8893800	Weak transcription	Fetal Brain Male	brain
36	chr8:8861800-8897800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr8:8861800-8915600	Weak transcription	Pancreas	Pancrea
38	chr8:8862000-8868800	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr8:8862000-8869000	Weak transcription	Adipose Nuclei	Adipose
40	chr8:8862000-8869000	Weak transcription	Fetal Brain Female	brain
41	chr8:8862000-8869200	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr8:8862000-8869600	Weak transcription	Fetal Lung	lung
43	chr8:8862000-8870400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr8:8862200-8869000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr8:8862200-8869000	Weak transcription	Primary B cells from cord blood	blood
46	chr8:8862200-8870600	Weak transcription	Left Ventricle	heart
47	chr8:8862200-8870600	Weak transcription	Lung	lung
48	chr8:8862400-8874400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr8:8863400-8870800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr8:8864400-8868800	Weak transcription	NHLF	lung

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