Variant report

Variant	rs73696518
Chromosome Location	chr8:102861958-102861959
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:102857484..102859004-chr8:102860794..102863721,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1440256	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1440257	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1440258	1.00[ASN][1000 genomes]
rs16868551	1.00[ASN][1000 genomes]
rs16868553	1.00[ASN][1000 genomes]
rs58181251	1.00[ASN][1000 genomes]
rs59933698	1.00[ASN][1000 genomes]
rs7000008	1.00[ASN][1000 genomes]
rs73696521	1.00[ASN][1000 genomes]
rs73696644	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7464196	1.00[AMR][1000 genomes];1.00[ASN][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	nsv1018653	chr8:102818271-103009082	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv539700	chr8:102818271-103009082	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv518162	chr8:102841031-102893626	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv523850	chr8:102841031-102893626	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv465749	chr8:102847202-102929460	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv611819	chr8:102847202-102929460	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102803600-102870600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr8:102845400-102862000	Weak transcription	Left Ventricle	heart
3	chr8:102846800-102866400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:102854800-102866200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:102855200-102862400	Weak transcription	Aorta	Aorta
6	chr8:102859600-102866200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:102861400-102862000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr8:102861400-102862600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:102861400-102862600	Enhancers	NHEK	skin
10	chr8:102861400-102863200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:102861600-102862400	Enhancers	GM12878-XiMat	blood
12	chr8:102861600-102862600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr8:102861600-102862600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr8:102861600-102863000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr8:102861800-102862000	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr8:102861800-102862200	Weak transcription	Psoas Muscle	Psoas
17	chr8:102861800-102862400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr8:102861800-102862400	Enhancers	Fetal Heart	heart
19	chr8:102861800-102862600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr8:102861800-102862600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:102861800-102862600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr8:102861800-102862600	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr8:102861800-102862600	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr8:102861800-102862600	Enhancers	Colon Smooth Muscle	Colon
25	chr8:102861800-102862800	Enhancers	H1 Cell Line	embryonic stem cell
26	chr8:102861800-102862800	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr8:102861800-102862800	Enhancers	Fetal Muscle Leg	muscle
28	chr8:102861800-102863000	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr8:102861800-102863000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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