Variant report

Variant	rs439216
Chromosome Location	chr13:93868477-93868478
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:93866502..93868671-chr13:93869207..93871495,2	K562	blood:

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs1413066	0.84[AFR][1000 genomes]
rs1413067	0.84[AFR][1000 genomes]
rs16948474	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1760330	0.84[AFR][1000 genomes]
rs1810933	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1855274	0.92[ASW][hapmap];0.85[LWK][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1855275	0.95[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs223307	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2388917	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2780374	1.00[AFR][1000 genomes]
rs2780381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2780382	0.92[ASW][hapmap];0.93[LWK][hapmap];0.95[MKK][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2781035	0.84[AFR][1000 genomes]
rs2781051	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2781052	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs319517	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs319518	0.95[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs319520	0.92[ASW][hapmap];0.82[LWK][hapmap];0.93[MKK][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs319521	0.95[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs320070	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs320071	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs320072	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs320075	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs320076	0.92[ASW][hapmap];0.86[LWK][hapmap];0.89[MKK][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs320078	0.95[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs320079	0.95[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs320080	0.95[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs320081	0.95[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs364631	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs366378	0.99[AFR][1000 genomes]
rs367924	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs368555	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs371381	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs372160	0.84[AFR][1000 genomes]
rs374389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs376830	0.83[ASW][hapmap];0.93[LWK][hapmap];0.98[MKK][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes]
rs376851	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs380416	0.84[AFR][1000 genomes]
rs380786	0.84[AFR][1000 genomes]
rs381662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs385054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs387992	0.95[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs389587	0.95[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs390904	0.84[AFR][1000 genomes]
rs394973	0.84[AFR][1000 genomes]
rs397442	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs415326	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs417537	0.82[LWK][hapmap];0.91[MKK][hapmap];0.84[AFR][1000 genomes]
rs417815	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs418948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs420913	0.95[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs421861	0.84[AFR][1000 genomes]
rs425257	0.84[AFR][1000 genomes]
rs425955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs426342	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs426397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs426787	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs427399	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs427409	0.84[AFR][1000 genomes]
rs427503	0.84[AFR][1000 genomes]
rs428015	0.84[AFR][1000 genomes]
rs4300492	0.81[AFR][1000 genomes]
rs431476	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs432632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs432800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs433129	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs433135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs437435	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs437703	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs437913	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs438139	0.95[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs443603	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs444365	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs448518	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs450509	0.95[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs450732	0.95[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs451048	0.95[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs454092	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs475566	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs489911	0.84[AFR][1000 genomes]
rs489934	0.84[AFR][1000 genomes]
rs521884	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs549385	0.95[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7330458	0.84[AFR][1000 genomes]
rs914865	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs914866	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869070	chr13:93347616-94286933	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv832682	chr13:93700861-93874801	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv900916	chr13:93814026-93869041	Active TSS Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1053035	chr13:93842576-94229732	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv541880	chr13:93842576-94229732	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:93866600-93869000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr13:93867800-93868600	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr13:93867800-93869400	Enhancers	H1 Cell Line	embryonic stem cell
4	chr13:93868200-93868600	Enhancers	H9 Cell Line	embryonic stem cell
5	chr13:93868200-93868800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr13:93868200-93868800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr13:93868200-93869000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr13:93868200-93870800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr13:93868200-93872400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr13:93868400-93868600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr13:93868400-93868600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr13:93868400-93868800	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr13:93868400-93868800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr13:93868400-93869000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr13:93868400-93869200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr13:93868400-93870600	Enhancers	HepG2	liver

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