Variant report

Variant	rs71516753
Chromosome Location	chr8:125687051-125687052
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125664797..125667579-chr8:125686939..125689871,2	K562	blood:
2	chr8:125673889..125676093-chr8:125685869..125687968,2	MCF-7	breast:
3	chr8:125685948..125687949-chr8:125826309..125828917,3	K562	blood:
4	chr8:125680861..125685703-chr8:125685975..125688840,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255491	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13279648	0.81[ASN][1000 genomes]
rs16893083	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16899959	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35566676	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71516754	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027585	chr8:125627924-125707738	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
2	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	nsv1016502	chr8:125657664-125845074	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125673000-125699000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr8:125676200-125699200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:125678400-125688800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr8:125681200-125687800	Enhancers	Fetal Heart	heart
5	chr8:125681200-125701000	Weak transcription	HMEC	breast
6	chr8:125681800-125687400	Enhancers	Psoas Muscle	Psoas
7	chr8:125684200-125687600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:125684600-125687600	Enhancers	Fetal Thymus	thymus
9	chr8:125684600-125687800	Enhancers	Spleen	Spleen
10	chr8:125685000-125687400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr8:125685000-125687600	Enhancers	Left Ventricle	heart
12	chr8:125685000-125687600	Enhancers	Thymus	Thymus
13	chr8:125685000-125688000	Enhancers	Right Atrium	heart
14	chr8:125685800-125694600	Weak transcription	Gastric	stomach
15	chr8:125686000-125687400	Enhancers	Lung	lung
16	chr8:125686200-125687600	Weak transcription	HepG2	liver
17	chr8:125686200-125688800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr8:125686200-125688800	Weak transcription	Brain Angular Gyrus	brain
19	chr8:125686200-125688800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr8:125686200-125688800	Weak transcription	Fetal Lung	lung
21	chr8:125686200-125689000	Weak transcription	Liver	Liver
22	chr8:125686200-125689400	Weak transcription	Colon Smooth Muscle	Colon
23	chr8:125686200-125691000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr8:125686200-125691000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr8:125686200-125693000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr8:125686200-125694400	Weak transcription	Pancreas	Pancrea
27	chr8:125686200-125694600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr8:125686200-125695600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:125686200-125695800	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr8:125686200-125696000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr8:125686200-125697600	Weak transcription	HUVEC	blood vessel
32	chr8:125686200-125699600	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr8:125686400-125688600	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr8:125686400-125688600	Weak transcription	Stomach Smooth Muscle	stomach
35	chr8:125686400-125688800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr8:125686400-125688800	Weak transcription	Brain Hippocampus Middle	brain
37	chr8:125686400-125688800	Weak transcription	Brain Substantia Nigra	brain
38	chr8:125686400-125689000	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr8:125686400-125689000	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr8:125686400-125689000	Weak transcription	Fetal Stomach	stomach
41	chr8:125686400-125689200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr8:125686400-125691000	Weak transcription	HSMMtube	muscle
43	chr8:125686400-125692400	Weak transcription	Brain Anterior Caudate	brain
44	chr8:125686400-125694400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr8:125686400-125694400	Weak transcription	Esophagus	oesophagus
46	chr8:125686400-125694800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr8:125686400-125698400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr8:125686400-125698400	Weak transcription	Primary hematopoietic stem cells	blood
49	chr8:125686400-125699400	Weak transcription	Primary T cells from cord blood	blood
50	chr8:125686600-125687600	Strong transcription	Fetal Intestine Small	intestine

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