Variant report

Variant	rs1713740
Chromosome Location	chr8:124179312-124179313
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:124169456..124169969-chr8:124179158..124179980,2	MCF-7	breast:
2	chr8:124178462..124182512-chr8:124193560..124196504,6	K562	blood:
3	chr8:124167900..124173832-chr8:124175566..124180994,14	K562	blood:
4	chr8:124171738..124174563-chr8:124175786..124180198,3	MCF-7	breast:
5	chr8:124174839..124177089-chr8:124178811..124181390,3	K562	blood:
6	chr8:124178849..124184750-chr8:124201276..124205206,6	K562	blood:
7	chr8:123796489..123798118-chr8:124177230..124179906,2	MCF-7	breast:
8	chr8:124167743..124172035-chr8:124177154..124180052,5	MCF-7	breast:
9	chr8:124178302..124181222-chr8:124285039..124286646,2	K562	blood:
10	chr8:124178638..124181295-chr8:124284494..124287205,4	K562	blood:
11	chr8:124178110..124181504-chr8:124183204..124185869,4	MCF-7	breast:
12	chr8:124047069..124048910-chr8:124178718..124181418,2	K562	blood:
13	chr8:124178373..124181219-chr8:124197748..124199927,3	K562	blood:
14	chr8:124175599..124182947-chr8:124187251..124193031,13	K562	blood:
15	chr8:124164274..124174107-chr8:124177179..124181294,15	K562	blood:
16	chr8:124178555..124179416-chr8:124232766..124233422,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000221461	Chromatin interaction
ENSG00000165156	Chromatin interaction
ENSG00000253258	Chromatin interaction
ENSG00000147689	Chromatin interaction
ENSG00000253410	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1619905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1670175	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1670180	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1713742	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap]
rs1713743	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1713744	1.00[CEU][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17377108	1.00[ASW][hapmap];0.88[CEU][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1878776	1.00[CHD][hapmap];1.00[LWK][hapmap]
rs6994515	1.00[CHD][hapmap]
rs7816374	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032827	chr8:123668081-124270400	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv529364	chr8:123763846-124373809	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv429939	chr8:124027819-124180819	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1028933	chr8:124065484-124181718	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv1015249	chr8:124103504-124373949	Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv539741	chr8:124103504-124373949	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124173800-124179600	Weak transcription	Spleen	Spleen
2	chr8:124173800-124179800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:124176200-124181200	Enhancers	Adipose Nuclei	Adipose
4	chr8:124177000-124181000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:124177200-124181200	Enhancers	Placenta Amnion	Placenta Amnion
6	chr8:124177600-124179600	Enhancers	Fetal Muscle Trunk	muscle
7	chr8:124177800-124180400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr8:124177800-124180400	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr8:124178200-124180600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr8:124178400-124179400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:124178400-124179800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:124178400-124179800	Enhancers	Lung	lung
13	chr8:124178400-124180000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:124178400-124180000	Enhancers	Esophagus	oesophagus
15	chr8:124178400-124180000	Enhancers	NH-A	brain
16	chr8:124178400-124180200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:124178400-124180200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr8:124178400-124180200	Flanking Active TSS	Hela-S3	cervix
19	chr8:124178400-124180400	Enhancers	Placenta	Placenta
20	chr8:124178400-124180800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:124178400-124181000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:124178400-124181000	Enhancers	Fetal Intestine Large	intestine
23	chr8:124178400-124181000	Enhancers	HMEC	breast
24	chr8:124178400-124181200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:124178600-124179400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr8:124178600-124179600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr8:124178600-124180200	Enhancers	Stomach Mucosa	stomach
28	chr8:124178600-124181200	Enhancers	NHDF-Ad	bronchial
29	chr8:124178600-124181400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:124178800-124179600	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr8:124178800-124180200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr8:124178800-124182200	Weak transcription	Fetal Heart	heart
33	chr8:124178800-124194000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr8:124179000-124179400	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr8:124179000-124179600	Enhancers	NHEK	skin
36	chr8:124179000-124179800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr8:124179000-124180000	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr8:124179000-124181000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr8:124179000-124181400	Enhancers	Fetal Intestine Small	intestine
40	chr8:124179000-124181400	Flanking Active TSS	K562	blood
41	chr8:124179200-124179800	Enhancers	H1 Cell Line	embryonic stem cell
42	chr8:124179200-124179800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr8:124179200-124179800	Enhancers	Duodenum Mucosa	Duodenum
44	chr8:124179200-124180400	Flanking Active TSS	HepG2	liver
45	chr8:124179200-124180800	Weak transcription	Right Atrium	heart

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