Variant report

Variant	rs59472758
Chromosome Location	chr8:8863926-8863927
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:8860175..8861863-chr8:8862457..8864290,2	MCF-7	breast:
2	chr17:44270882..44271739-chr8:8863602..8864404,2	HCT-116	colon:
3	chr8:8859158..8862299-chr8:8862308..8864941,3	K562	blood:
4	chr8:8859129..8863024-chr8:8863037..8866949,8	K562	blood:
5	chr8:8859158..8867027-chr8:8867199..8874373,17	K562	blood:

Variant related genes	Relation type
ENSG00000120071	Chromatin interaction
ENSG00000214401	Chromatin interaction
ENSG00000104626	Chromatin interaction

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[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59294496	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	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73662271	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73662272	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73662273	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73662274	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73662275	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73662276	0.91[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:122 , 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	chr8:8861800-8864200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr8:8861800-8864200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:8861800-8864200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr8:8861800-8864200	Weak transcription	Stomach Mucosa	stomach
14	chr8:8861800-8864200	Weak transcription	HSMM	muscle
15	chr8:8861800-8865400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr8:8861800-8865400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr8:8861800-8865800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr8:8861800-8866000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:8861800-8866000	Weak transcription	Placenta	Placenta
20	chr8:8861800-8866200	Weak transcription	Primary B cells from peripheral blood	blood
21	chr8:8861800-8866200	Weak transcription	Primary T cells from cord blood	blood
22	chr8:8861800-8866200	Weak transcription	Brain Germinal Matrix	brain
23	chr8:8861800-8866200	Weak transcription	Fetal Thymus	thymus
24	chr8:8861800-8866600	Weak transcription	Brain Hippocampus Middle	brain
25	chr8:8861800-8866600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr8:8861800-8867200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr8:8861800-8867200	Weak transcription	Fetal Muscle Leg	muscle
28	chr8:8861800-8869000	Weak transcription	Fetal Intestine Small	intestine
29	chr8:8861800-8870400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr8:8861800-8870400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr8:8861800-8870400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr8:8861800-8870400	Weak transcription	Fetal Stomach	stomach
33	chr8:8861800-8870400	Weak transcription	Psoas Muscle	Psoas
34	chr8:8861800-8870600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr8:8861800-8870600	Weak transcription	Thymus	Thymus
36	chr8:8861800-8871000	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr8:8861800-8871000	Weak transcription	HSMMtube	muscle
38	chr8:8861800-8871400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr8:8861800-8871600	Weak transcription	Rectal Smooth Muscle	rectum
40	chr8:8861800-8874800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr8:8861800-8875000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr8:8861800-8875000	Weak transcription	Gastric	stomach
43	chr8:8861800-8877800	Weak transcription	Right Ventricle	heart
44	chr8:8861800-8881800	Weak transcription	Fetal Kidney	kidney
45	chr8:8861800-8883400	Weak transcription	Spleen	Spleen
46	chr8:8861800-8883600	Weak transcription	Small Intestine	intestine
47	chr8:8861800-8885200	Weak transcription	Brain Cingulate Gyrus	brain
48	chr8:8861800-8887200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr8:8861800-8887400	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr8:8861800-8890000	Weak transcription	Stomach Smooth Muscle	stomach

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