Variant report

Variant	rs549385
Chromosome Location	chr13:93872035-93872036
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:93871860..93874254-chr13:93879384..93881257,3	K562	blood:
2	chr13:93869680..93872583-chr9:134013709..134015795,2	K562	blood:
3	chr13:93870748..93872599-chr13:93963716..93966106,2	K562	blood:
4	chr13:93869467..93873656-chr13:93873911..93879205,7	K562	blood:

Variant related genes	Relation type
ENSG00000183098	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs1413066	0.85[AFR][1000 genomes]
rs1413067	0.85[AFR][1000 genomes]
rs16948474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1760330	0.85[AFR][1000 genomes]
rs1810933	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1855274	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1855275	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs223307	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2388917	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2780374	0.88[AFR][1000 genomes]
rs2780381	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2780382	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2781035	0.85[AFR][1000 genomes]
rs2781051	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2781052	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs319517	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs319518	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs319520	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs319521	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs320070	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs320071	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs320072	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs320075	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs320076	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs320078	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs320079	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs320080	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs320081	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs364631	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs366378	0.87[AFR][1000 genomes]
rs367924	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs368555	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs371381	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs372160	0.85[AFR][1000 genomes]
rs374389	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs376830	0.90[YRI][hapmap];0.81[AFR][1000 genomes]
rs376851	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs380416	0.85[AFR][1000 genomes]
rs380786	0.85[AFR][1000 genomes]
rs381662	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs385054	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs387992	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs389587	0.91[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs390904	0.82[YRI][hapmap];0.85[AFR][1000 genomes]
rs394973	0.85[AFR][1000 genomes]
rs397442	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs415326	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs417537	0.80[YRI][hapmap];0.85[AFR][1000 genomes]
rs417815	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs418948	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs420913	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs421381	0.81[AFR][1000 genomes]
rs421861	0.82[YRI][hapmap];0.85[AFR][1000 genomes]
rs425257	0.85[AFR][1000 genomes]
rs425955	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs426342	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs426397	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs426787	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs427399	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs427409	0.85[AFR][1000 genomes]
rs427503	0.85[AFR][1000 genomes]
rs428015	0.82[YRI][hapmap];0.85[AFR][1000 genomes]
rs4300492	0.83[AFR][1000 genomes]
rs431476	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs432632	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs432800	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs433129	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs433135	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs437435	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs437703	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs437913	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs438139	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs439216	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs443603	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs444365	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs448518	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs450509	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs450732	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs451048	0.91[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs454092	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs475566	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs489911	0.80[YRI][hapmap];0.85[AFR][1000 genomes]
rs489934	0.85[AFR][1000 genomes]
rs521884	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7330458	0.85[AFR][1000 genomes]
rs914865	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs914866	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
4	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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:93868200-93872400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:93868800-93876800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr13:93869000-93872400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr13:93869000-93875400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr13:93869000-93878200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr13:93869200-93875200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr13:93870000-93876600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr13:93870400-93872200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr13:93870400-93872400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr13:93870400-93872400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr13:93870400-93874800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr13:93870400-93876600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr13:93870600-93875400	Weak transcription	HepG2	liver
14	chr13:93870600-93877000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr13:93871000-93872200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr13:93871000-93872200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr13:93871000-93875000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr13:93871200-93872200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr13:93871200-93872200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr13:93871200-93872400	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr13:93871200-93876800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr13:93871200-93876800	Weak transcription	HMEC	breast
23	chr13:93871200-93877800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr13:93871200-93878400	Weak transcription	Fetal Brain Female	brain
25	chr13:93871400-93872600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr13:93871400-93875000	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr13:93871400-93876800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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