Variant report

Variant	rs6468789
Chromosome Location	chr8:102714970-102714971
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:102704561..102708348-chr8:102712896..102716376,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104490	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10081547	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10808376	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1080953	0.87[YRI][hapmap]
rs11778728	1.00[EUR][1000 genomes]
rs4734574	1.00[EUR][1000 genomes]
rs4734586	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];1.00[ASN][1000 genomes]
rs6468788	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];1.00[ASN][1000 genomes]
rs6468790	1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6987350	0.81[ASN][1000 genomes]
rs7003410	0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];1.00[ASN][1000 genomes]
rs7814988	0.94[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	esv3401576	chr8:102640273-102724495	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102700000-102730600	Weak transcription	Aorta	Aorta
2	chr8:102702000-102715600	Weak transcription	Pancreas	Pancrea
3	chr8:102705600-102715800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr8:102708800-102729000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr8:102712400-102716400	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr8:102712600-102716600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr8:102713000-102715600	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr8:102713000-102716400	Enhancers	Placenta Amnion	Placenta Amnion
9	chr8:102713200-102715600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr8:102713400-102715200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr8:102713400-102715600	Weak transcription	Lung	lung
12	chr8:102713400-102715600	Weak transcription	Psoas Muscle	Psoas
13	chr8:102713400-102715600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr8:102713400-102715600	Weak transcription	Right Atrium	heart
15	chr8:102713400-102715800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr8:102713600-102715400	Weak transcription	Brain Hippocampus Middle	brain
17	chr8:102713600-102715400	Weak transcription	Fetal Lung	lung
18	chr8:102713600-102715600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr8:102713600-102715800	Weak transcription	Right Ventricle	heart
20	chr8:102713600-102716600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr8:102713800-102715600	Weak transcription	Fetal Heart	heart
22	chr8:102713800-102715600	Weak transcription	Left Ventricle	heart
23	chr8:102713800-102715600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr8:102713800-102715800	Weak transcription	Fetal Stomach	stomach
25	chr8:102713800-102723200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr8:102713800-102768400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:102714000-102715400	Weak transcription	Fetal Muscle Leg	muscle
28	chr8:102714000-102715600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr8:102714000-102715600	Weak transcription	Adipose Nuclei	Adipose
30	chr8:102714000-102715600	Weak transcription	Ovary	ovary
31	chr8:102714000-102718000	Weak transcription	NHDF-Ad	bronchial
32	chr8:102714200-102715000	Weak transcription	Colon Smooth Muscle	Colon
33	chr8:102714200-102715600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr8:102714200-102719000	Weak transcription	Fetal Kidney	kidney
35	chr8:102714400-102715000	Weak transcription	Primary hematopoietic stem cells	blood
36	chr8:102714400-102716000	Enhancers	Brain Substantia Nigra	brain
37	chr8:102714400-102717600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:102714600-102716200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr8:102714600-102719600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr8:102714600-102740800	Weak transcription	Primary T cells from cord blood	blood
41	chr8:102714800-102715000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr8:102714800-102715000	Enhancers	Fetal Muscle Trunk	muscle
43	chr8:102714800-102715200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr8:102714800-102715600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr8:102714800-102716000	Flanking Active TSS	GM12878-XiMat	blood
46	chr8:102714800-102716400	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr8:102714800-102716800	Enhancers	Placenta	Placenta
48	chr8:102714800-102721600	Weak transcription	Fetal Thymus	thymus
49	chr8:102714800-102722400	Weak transcription	Primary T cells fromperipheralblood	blood

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