Variant report

Variant	rs10518196
Chromosome Location	chr4:79143270-79143271
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11098093	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12645741	0.91[AMR][1000 genomes]
rs12649696	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17003028	0.81[CEU][hapmap]
rs17003043	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2866994	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2866995	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58427733	0.90[AMR][1000 genomes]
rs58661619	0.91[AMR][1000 genomes]
rs60419354	0.91[AMR][1000 genomes]
rs62308039	0.88[AMR][1000 genomes]
rs62309967	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62309968	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7686101	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534024	chr4:78785189-79437403	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv525530	chr4:79024524-79266563	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv879502	chr4:79052851-79144309	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1010782	chr4:79057839-79387207	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv999844	chr4:79092549-79165869	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv879503	chr4:79108589-79163162	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 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	chr4:79135000-79143400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:79138600-79143800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr4:79141400-79144400	Weak transcription	Fetal Heart	heart
4	chr4:79141600-79148400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr4:79141800-79143600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr4:79142000-79143800	Weak transcription	HepG2	liver
7	chr4:79142600-79143400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr4:79142600-79143600	Enhancers	Brain Germinal Matrix	brain
9	chr4:79142600-79145000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:79142800-79143600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:79142800-79144600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr4:79142800-79144600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:79142800-79144600	Enhancers	H9 Cell Line	embryonic stem cell
14	chr4:79142800-79144600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr4:79142800-79144600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr4:79142800-79145400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr4:79143000-79143600	Enhancers	Primary T cells from cord blood	blood
18	chr4:79143000-79144200	Enhancers	HSMMtube	muscle
19	chr4:79143000-79144400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr4:79143000-79144800	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr4:79143200-79143400	Enhancers	Psoas Muscle	Psoas
22	chr4:79143200-79144200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr4:79143200-79144200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr4:79143200-79144200	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr4:79143200-79144200	Enhancers	Esophagus	oesophagus
26	chr4:79143200-79144400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr4:79143200-79144600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr4:79143200-79144600	Enhancers	Fetal Thymus	thymus
29	chr4:79143200-79146000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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