Variant report

Variant	rs72664698
Chromosome Location	chr8:96283002-96283003
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD2	chr8:96282998-96283017	GM12878	blood:	n/a	n/a
2	MYC	chr8:96281374-96283039	MCF10A-Er-Src	breast:	n/a	chr8:96281719-96281735 chr8:96281536-96281545
3	JUND	chr8:96280698-96283117	K562	blood:	n/a	n/a
4	SREBP2	chr8:96280774-96283681	GM12878	blood:	n/a	n/a
5	FOXA1	chr8:96282837-96283170	HepG2	liver:	n/a	n/a
6	TBP	chr8:96280766-96283023	Hela-S3	cervix:	n/a	n/a
7	BACH1	chr8:96282858-96283039	K562	blood:	n/a	n/a
8	POLR2A	chr8:96280741-96283112	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:96111950..96115004-chr8:96279819..96283605,3	MCF-7	breast:
2	chr8:96140207..96143129-chr8:96281545..96283235,2	MCF-7	breast:
3	chr8:96262492..96264147-chr8:96281511..96283438,2	MCF-7	breast:
4	chr8:95834579..95836869-chr8:96281817..96284598,2	K562	blood:
5	chr8:95907099..95910081-chr8:96279389..96285203,6	K562	blood:
6	chr8:96282451..96284903-chr8:96296240..96298528,2	K562	blood:
7	chr8:96144909..96147734-chr8:96280323..96283069,4	K562	blood:
8	chr8:95835507..95837268-chr8:96280531..96283343,2	MCF-7	breast:
9	chr8:95907501..95911346-chr8:96279945..96283030,5	MCF-7	breast:
10	chr8:96082478..96088281-chr8:96279501..96283230,8	MCF-7	breast:
11	chr8:96266342..96268440-chr8:96282035..96284401,2	K562	blood:

No data

Variant related genes	Relation type
C8orf37	TF binding region
ENSG00000164941	Chromatin interaction
ENSG00000175305	Chromatin interaction
ENSG00000175895	Chromatin interaction
ENSG00000245080	Chromatin interaction
ENSG00000156170	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1027267	1.00[ASN][1000 genomes]
rs1441397	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16917426	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17747331	1.00[ASN][1000 genomes]
rs34383415	1.00[ASN][1000 genomes]
rs55739300	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56306366	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522655	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522656	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522657	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62522658	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522861	1.00[ASN][1000 genomes]
rs62524389	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62524398	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62524402	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62524408	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7005341	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023866	chr8:96273255-96306378	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96280400-96283200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:96280400-96283200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr8:96280400-96283200	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr8:96280800-96283200	Active TSS	Hela-S3	cervix
5	chr8:96282200-96283400	Flanking Active TSS	Primary T cells from cord blood	blood
6	chr8:96282200-96283400	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr8:96282200-96283400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr8:96282400-96283400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:96282400-96283400	Enhancers	Small Intestine	intestine
10	chr8:96282400-96285600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:96282600-96283200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr8:96282600-96283200	Flanking Active TSS	GM12878-XiMat	blood
13	chr8:96282600-96283200	Flanking Active TSS	HMEC	breast
14	chr8:96282600-96283400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr8:96282600-96283400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr8:96282800-96283200	Enhancers	H9 Cell Line	embryonic stem cell
17	chr8:96282800-96283200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr8:96282800-96283200	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr8:96282800-96283200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:96282800-96283200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr8:96282800-96283200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:96282800-96283200	Enhancers	Muscle Satellite Cultured Cells	--
23	chr8:96282800-96283200	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr8:96282800-96283200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr8:96282800-96283200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr8:96282800-96283200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr8:96282800-96283200	Enhancers	Colonic Mucosa	Colon
28	chr8:96282800-96283200	Flanking Active TSS	Fetal Kidney	kidney
29	chr8:96282800-96283200	Flanking Active TSS	Fetal Lung	lung
30	chr8:96282800-96283200	Enhancers	Placenta	Placenta
31	chr8:96282800-96283200	Enhancers	Placenta Amnion	Placenta Amnion
32	chr8:96282800-96283200	Enhancers	Rectal Smooth Muscle	rectum
33	chr8:96282800-96283200	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr8:96282800-96283200	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr8:96282800-96283200	Enhancers	A549	lung
36	chr8:96282800-96283200	Enhancers	HSMM	muscle
37	chr8:96282800-96283200	Enhancers	HUVEC	blood vessel
38	chr8:96282800-96283200	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr8:96282800-96283200	Enhancers	NHEK	skin
40	chr8:96282800-96283400	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr8:96282800-96283400	Enhancers	Primary B cells from peripheral blood	blood
42	chr8:96282800-96283400	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr8:96282800-96283400	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr8:96282800-96283400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr8:96282800-96283400	Enhancers	Brain Angular Gyrus	brain
46	chr8:96282800-96283400	Enhancers	Brain Hippocampus Middle	brain
47	chr8:96282800-96283400	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr8:96282800-96283400	Enhancers	Colon Smooth Muscle	Colon
49	chr8:96282800-96283400	Enhancers	Duodenum Mucosa	Duodenum
50	chr8:96282800-96283400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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