Variant report

Variant	rs320076
Chromosome Location	chr13:93870354-93870355
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:93869680..93872583-chr9:134013709..134015795,2	K562	blood:
2	chr13:93869247..93871536-chr13:93872305..93874337,3	K562	blood:
3	chr13:93869467..93873656-chr13:93873911..93879205,7	K562	blood:
4	chr13:93866502..93868671-chr13:93869207..93871495,2	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[ASW][hapmap];0.92[LWK][hapmap];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[ASW][hapmap];0.93[LWK][hapmap];0.93[MKK][hapmap];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[ASW][hapmap];0.89[LWK][hapmap];0.91[MKK][hapmap];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]
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	0.86[LWK][hapmap];0.87[MKK][hapmap];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	0.90[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs390904	0.80[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	0.83[ASW][hapmap];0.89[LWK][hapmap];0.88[MKK][hapmap];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	0.80[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	0.80[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	0.90[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	0.85[AFR][1000 genomes]
rs489934	0.85[AFR][1000 genomes]
rs521884	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs549385	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:93868200-93870800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr13:93868200-93872400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr13:93868400-93870600	Enhancers	HepG2	liver
4	chr13:93868600-93870600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr13:93868800-93871200	Enhancers	HMEC	breast
6	chr13:93868800-93876800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr13:93869000-93871000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr13:93869000-93872400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr13:93869000-93875400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr13:93869000-93878200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr13:93869200-93870400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr13:93869200-93870600	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr13:93869200-93871400	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr13:93869200-93875200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr13:93869400-93870400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr13:93869800-93870400	Enhancers	H1 Cell Line	embryonic stem cell
17	chr13:93869800-93870400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr13:93869800-93870400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr13:93869800-93870400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr13:93869800-93870400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr13:93869800-93870400	Enhancers	NHEK	skin
22	chr13:93869800-93871000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr13:93869800-93871000	Enhancers	Fetal Lung	lung
24	chr13:93870000-93870400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr13:93870000-93870400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr13:93870000-93870600	Enhancers	Brain Substantia Nigra	brain
27	chr13:93870000-93876600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr13:93870200-93871200	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr13:93870200-93871200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr13:93870200-93871200	Enhancers	Fetal Brain Female	brain

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