Variant report

Variant	rs60102648
Chromosome Location	chr8:90930024-90930025
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:90923270..90927785-chr8:90927910..90932487,5	K562	blood:
2	chr8:90915800..90917869-chr8:90927701..90930524,2	K562	blood:
3	chr8:90913143..90918237-chr8:90929884..90933171,7	K562	blood:
4	chr17:59484518..59487059-chr8:90928866..90930436,2	MCF-7	breast:
5	chr8:90927824..90930630-chr8:90933419..90935014,2	K562	blood:
6	chr8:90913131..90919306-chr8:90925970..90937421,31	MCF-7	breast:
7	chr8:90929789..90933770-chr8:90935433..90938378,4	MCF-7	breast:
8	chr8:90860628..90863383-chr8:90929314..90932262,2	MCF-7	breast:
9	chr8:90769971..90771729-chr8:90929288..90930844,2	MCF-7	breast:
10	chr8:90914556..90918183-chr8:90929139..90931902,4	MCF-7	breast:
11	chr8:90920379..90924050-chr8:90924527..90930361,8	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000164823	Chromatin interaction
ENSG00000121068	Chromatin interaction
ENSG00000104312	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12547410	1.00[AFR][1000 genomes]
rs12549920	1.00[AFR][1000 genomes]
rs12679488	1.00[AFR][1000 genomes]
rs12682082	1.00[AFR][1000 genomes]
rs16901218	1.00[AFR][1000 genomes]
rs16901236	1.00[AFR][1000 genomes]
rs16901239	1.00[AFR][1000 genomes]
rs2141402	1.00[AFR][1000 genomes]
rs4961163	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
2	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90915400-90966800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr8:90915600-90950800	Weak transcription	Stomach Mucosa	stomach
3	chr8:90915800-90930800	Weak transcription	Fetal Brain Female	brain
4	chr8:90915800-90995000	Weak transcription	Fetal Brain Male	brain
5	chr8:90916000-90961400	Weak transcription	Fetal Heart	heart
6	chr8:90916400-90937000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr8:90916600-90969600	Weak transcription	Brain Substantia Nigra	brain
8	chr8:90917000-90937000	Weak transcription	Psoas Muscle	Psoas
9	chr8:90917600-90953600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr8:90917600-90975400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr8:90918800-90951800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr8:90919200-90936800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr8:90921400-90932000	Strong transcription	Hela-S3	cervix
14	chr8:90921800-90941600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr8:90922000-90932000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:90922000-90932000	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr8:90922000-90932800	Strong transcription	Primary B cells from peripheral blood	blood
18	chr8:90922200-90932000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:90922200-90932000	Strong transcription	Fetal Muscle Trunk	muscle
20	chr8:90922200-90932400	Strong transcription	Adipose Nuclei	Adipose
21	chr8:90922200-90932600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr8:90922200-90938800	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr8:90922400-90940000	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr8:90922600-90931600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:90923400-90936800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr8:90923400-90936800	Weak transcription	Placenta	Placenta
27	chr8:90923800-90932000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr8:90924800-90940000	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr8:90924800-90986600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:90925000-90939000	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr8:90925200-90931400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr8:90925200-90932200	Strong transcription	Dnd41	blood
33	chr8:90925200-90932200	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr8:90925200-90942600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr8:90925400-90931200	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr8:90925400-90935400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr8:90925400-90938400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr8:90925400-90939000	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr8:90925400-90940600	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr8:90925400-90941600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr8:90925400-90941800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:90925400-90945000	Weak transcription	Rectal Smooth Muscle	rectum
43	chr8:90925400-90952000	Weak transcription	Fetal Intestine Small	intestine
44	chr8:90925400-90956600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr8:90925400-90970200	Weak transcription	Pancreas	Pancrea
46	chr8:90925400-90979200	Weak transcription	Gastric	stomach
47	chr8:90925600-90934000	Strong transcription	GM12878-XiMat	blood
48	chr8:90925600-90936800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr8:90925600-90939600	Weak transcription	Brain Germinal Matrix	brain
50	chr8:90925600-90942200	Strong transcription	Primary hematopoietic stem cells	blood

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