Variant report

Variant	rs73662271
Chromosome Location	chr8:8865731-8865732
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	chr8:8863320-8872107	K562	blood:	n/a	n/a
2	FOSL1	chr8:8864888-8865839	HCT-116	colon:	n/a	chr8:8865267-8865274 chr8:8865267-8865276 chr8:8865267-8865275

No.	Distal block	Cell Line	Cell type
1	chr8:8859707..8862059-chr8:8864809..8869173,3	MCF-7	breast:
2	chr8:8859129..8863024-chr8:8863037..8866949,8	K562	blood:
3	chr8:8634836..8637648-chr8:8864652..8866241,2	K562	blood:
4	chr8:8865434..8867706-chr8:8868292..8869978,2	MCF-7	breast:
5	chr8:8856242..8858466-chr8:8864849..8867398,2	K562	blood:
6	chr8:8748349..8752697-chr8:8864961..8869329,4	K562	blood:
7	chr8:8848435..8850169-chr8:8864195..8867321,3	K562	blood:
8	chr8:8859158..8867027-chr8:8867199..8874373,17	K562	blood:

Variant related genes	Relation type
ERI1	TF binding region
ENSG00000147324	Chromatin interaction
ENSG00000104626	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]
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]
rs73662275	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	chr8:8861600-8866600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr8:8861600-8866600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr8:8861600-8868200	Weak transcription	Brain Substantia Nigra	brain
6	chr8:8861600-8870600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:8861600-8876200	Weak transcription	Esophagus	oesophagus
8	chr8:8861600-8878600	Weak transcription	Colon Smooth Muscle	Colon
9	chr8:8861600-8885600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:8861800-8865800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr8:8861800-8866000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:8861800-8866000	Weak transcription	Placenta	Placenta
13	chr8:8861800-8866200	Weak transcription	Primary B cells from peripheral blood	blood
14	chr8:8861800-8866200	Weak transcription	Primary T cells from cord blood	blood
15	chr8:8861800-8866200	Weak transcription	Brain Germinal Matrix	brain
16	chr8:8861800-8866200	Weak transcription	Fetal Thymus	thymus
17	chr8:8861800-8866600	Weak transcription	Brain Hippocampus Middle	brain
18	chr8:8861800-8866600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr8:8861800-8867200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr8:8861800-8867200	Weak transcription	Fetal Muscle Leg	muscle
21	chr8:8861800-8869000	Weak transcription	Fetal Intestine Small	intestine
22	chr8:8861800-8870400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr8:8861800-8870400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr8:8861800-8870400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr8:8861800-8870400	Weak transcription	Fetal Stomach	stomach
26	chr8:8861800-8870400	Weak transcription	Psoas Muscle	Psoas
27	chr8:8861800-8870600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr8:8861800-8870600	Weak transcription	Thymus	Thymus
29	chr8:8861800-8871000	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr8:8861800-8871000	Weak transcription	HSMMtube	muscle
31	chr8:8861800-8871400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr8:8861800-8871600	Weak transcription	Rectal Smooth Muscle	rectum
33	chr8:8861800-8874800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr8:8861800-8875000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr8:8861800-8875000	Weak transcription	Gastric	stomach
36	chr8:8861800-8877800	Weak transcription	Right Ventricle	heart
37	chr8:8861800-8881800	Weak transcription	Fetal Kidney	kidney
38	chr8:8861800-8883400	Weak transcription	Spleen	Spleen
39	chr8:8861800-8883600	Weak transcription	Small Intestine	intestine
40	chr8:8861800-8885200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr8:8861800-8887200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr8:8861800-8887400	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr8:8861800-8890000	Weak transcription	Stomach Smooth Muscle	stomach
44	chr8:8861800-8891400	Weak transcription	Brain Angular Gyrus	brain
45	chr8:8861800-8891800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr8:8861800-8892000	Weak transcription	Brain Anterior Caudate	brain
47	chr8:8861800-8892200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr8:8861800-8892200	Weak transcription	Ovary	ovary
49	chr8:8861800-8893800	Weak transcription	Fetal Brain Male	brain
50	chr8:8861800-8897800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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