Variant report

Variant	rs4884719
Chromosome Location	chr13:67761430-67761431
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12857493	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1983871	0.85[ASN][1000 genomes]
rs1983949	0.84[CHB][hapmap];0.83[JPT][hapmap];0.90[ASN][1000 genomes]
rs2147998	0.84[CHB][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs2182229	0.84[ASN][1000 genomes]
rs2325025	0.91[CHB][hapmap];0.82[ASN][1000 genomes]
rs2325027	0.91[CHB][hapmap];0.82[ASN][1000 genomes]
rs3812860	0.91[CHB][hapmap];0.80[ASN][1000 genomes]
rs4884720	0.83[CHB][hapmap];0.83[JPT][hapmap];0.90[ASN][1000 genomes]
rs700329	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71427643	0.85[ASN][1000 genomes]
rs7489531	0.85[ASN][1000 genomes]
rs7992750	0.87[ASN][1000 genomes]
rs9317650	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9317651	0.91[CHB][hapmap];0.83[JPT][hapmap];0.87[ASN][1000 genomes]
rs9317655	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9529199	0.84[CHB][hapmap];0.84[JPT][hapmap];0.90[ASN][1000 genomes]
rs9529206	0.82[ASN][1000 genomes]
rs9541034	0.82[ASN][1000 genomes]
rs9541035	0.91[CHB][hapmap];0.82[ASN][1000 genomes]
rs9571740	0.91[CHB][hapmap];0.82[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	nsv1035741	chr13:67212973-68077950	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv541817	chr13:67212973-68077950	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv430581	chr13:67572850-67762288	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv430582	chr13:67589898-67762299	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv1053514	chr13:67687520-67775011	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv977353	chr13:67759431-67764616	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67731400-67795400	Weak transcription	Primary B cells from cord blood	blood
2	chr13:67750600-67780800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr13:67756200-67795800	Weak transcription	Left Ventricle	heart
4	chr13:67758800-67765800	Weak transcription	Aorta	Aorta
5	chr13:67760600-67761600	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr13:67760600-67761600	Enhancers	Brain Angular Gyrus	brain
7	chr13:67760800-67762200	Active TSS	A549	lung
8	chr13:67761000-67761600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr13:67761000-67761600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr13:67761000-67761600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr13:67761000-67761600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr13:67761000-67761800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
13	chr13:67761200-67761600	Enhancers	Brain Cingulate Gyrus	brain
14	chr13:67761200-67761600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr13:67761200-67762400	Enhancers	Brain Substantia Nigra	brain
16	chr13:67761400-67761600	Active TSS	Brain Hippocampus Middle	brain
17	chr13:67761400-67762200	Weak transcription	Brain Anterior Caudate	brain

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