Variant report

Variant	rs1869248
Chromosome Location	chr8:124260986-124260987
allele	A/C
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:124258938..124261884-chr8:124284778..124287824,3	MCF-7	breast:
2	chr8:124192138..124195009-chr8:124260308..124263088,2	K562	blood:
3	chr8:124258264..124261047-chr8:124292328..124294678,2	MCF-7	breast:
4	chr8:124251684..124254164-chr8:124260710..124262569,2	MCF-7	breast:
5	chr8:124254647..124257811-chr8:124257905..124262383,4	MCF-7	breast:
6	chr8:124253403..124255325-chr8:124258532..124261130,2	K562	blood:
7	chr8:124260710..124262854-chr8:124277715..124280069,2	K562	blood:
8	chr8:124253700..124257884-chr8:124258396..124261295,6	K562	blood:
9	chr8:124260826..124264524-chr8:124407403..124409491,5	K562	blood:
10	chr8:124258371..124261487-chr8:124265477..124268861,3	K562	blood:
11	chr8:124258410..124261049-chr8:124273426..124275383,2	K562	blood:
12	chr8:124260751..124263539-chr8:124269599..124273070,3	K562	blood:
13	chr8:124260703..124265032-chr8:124283515..124287145,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000222607	Chromatin interaction
ENSG00000259305	Chromatin interaction
ENSG00000165156	Chromatin interaction
ENSG00000189376	Chromatin interaction
ENSG00000156802	Chromatin interaction
ENSG00000238422	Chromatin interaction
ENSG00000147689	Chromatin interaction
ENSG00000221461	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10089968	0.83[AMR][1000 genomes]
rs10103175	1.00[ASW][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes]
rs10104148	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11985857	0.95[AFR][1000 genomes]
rs11989904	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11991144	1.00[ASW][hapmap];1.00[MEX][hapmap]
rs11991436	1.00[MEX][hapmap]
rs11992098	1.00[MEX][hapmap]
rs11996182	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs11997908	0.83[AMR][1000 genomes]
rs16897940	1.00[MEX][hapmap]
rs16898127	1.00[MEX][hapmap]
rs16898257	0.83[AMR][1000 genomes]
rs16898261	0.82[YRI][hapmap]
rs28461952	0.83[AMR][1000 genomes]
rs5001348	1.00[MEX][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs6987701	1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6990003	1.00[AMR][1000 genomes]
rs7003464	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7007690	0.83[AMR][1000 genomes]
rs7009541	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7817491	1.00[ASW][hapmap]
rs900629	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
4	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:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124253600-124262800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:124253600-124263400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:124253600-124266400	Weak transcription	Gastric	stomach
4	chr8:124253600-124284200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr8:124253800-124261200	Weak transcription	HSMM	muscle
6	chr8:124253800-124263800	Weak transcription	Liver	Liver
7	chr8:124253800-124265800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr8:124253800-124266600	Weak transcription	Aorta	Aorta
9	chr8:124253800-124266800	Weak transcription	Esophagus	oesophagus
10	chr8:124253800-124267000	Weak transcription	A549	lung
11	chr8:124253800-124267000	Weak transcription	NHDF-Ad	bronchial
12	chr8:124253800-124269800	Weak transcription	Spleen	Spleen
13	chr8:124253800-124275400	Weak transcription	Colonic Mucosa	Colon
14	chr8:124254000-124261400	Weak transcription	Hela-S3	cervix
15	chr8:124254000-124262200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr8:124254000-124262800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr8:124254000-124262800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr8:124254000-124263000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:124254000-124263000	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr8:124254000-124263200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr8:124254000-124263200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:124254000-124263200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr8:124254000-124263200	Weak transcription	Fetal Kidney	kidney
24	chr8:124254000-124263200	Weak transcription	Left Ventricle	heart
25	chr8:124254000-124263400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr8:124254000-124263400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr8:124254000-124263600	Weak transcription	NH-A	brain
28	chr8:124254000-124263600	Weak transcription	Osteobl	bone
29	chr8:124254000-124264000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:124254000-124264000	Weak transcription	Brain Hippocampus Middle	brain
31	chr8:124254000-124264000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr8:124254000-124264000	Weak transcription	Fetal Lung	lung
33	chr8:124254000-124264200	Weak transcription	Colon Smooth Muscle	Colon
34	chr8:124254000-124265200	Weak transcription	Fetal Intestine Large	intestine
35	chr8:124254000-124265600	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr8:124254000-124265600	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr8:124254000-124265600	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr8:124254000-124265800	Weak transcription	Primary T cells from cord blood	blood
39	chr8:124254000-124265800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr8:124254000-124265800	Weak transcription	Placenta	Placenta
41	chr8:124254000-124265800	Weak transcription	Fetal Stomach	stomach
42	chr8:124254000-124265800	Weak transcription	Fetal Thymus	thymus
43	chr8:124254000-124265800	Weak transcription	Right Ventricle	heart
44	chr8:124254000-124265800	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr8:124254000-124265800	Weak transcription	NHEK	skin
46	chr8:124254000-124266000	Weak transcription	Primary B cells from cord blood	blood
47	chr8:124254000-124266000	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr8:124254000-124266000	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr8:124254000-124266200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr8:124254000-124266400	Weak transcription	Fetal Muscle Trunk	muscle

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