Variant report

Variant	rs10513025
Chromosome Location	chr5:9623622-9623623
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:9617196..9618905-chr5:9622707..9624345,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TAS2R1-1	chr5:9623578-9623718	XLOC_004730
2	lnc-TAS2R1-1	chr5:9623578-9623714	ENSG00000248525.2

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10036822	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10513026	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11959099	1.00[ASN][1000 genomes]
rs1508796	1.00[ASN][1000 genomes]
rs16883185	1.00[ASN][1000 genomes]
rs16883317	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16883340	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17258935	1.00[CHD][hapmap]
rs17264244	1.00[ASN][1000 genomes]
rs17325010	1.00[CHD][hapmap]
rs2234235	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28884498	0.91[EUR][1000 genomes]
rs3913498	1.00[ASN][1000 genomes]
rs4094231	1.00[ASN][1000 genomes]
rs62341162	1.00[ASN][1000 genomes]
rs62342598	1.00[ASN][1000 genomes]
rs62342599	1.00[ASN][1000 genomes]
rs62342602	1.00[ASN][1000 genomes]
rs62342603	1.00[ASN][1000 genomes]
rs62342605	1.00[ASN][1000 genomes]
rs62342606	1.00[ASN][1000 genomes]
rs62342608	1.00[ASN][1000 genomes]
rs62342620	1.00[ASN][1000 genomes]
rs62342624	1.00[ASN][1000 genomes]
rs62342652	1.00[ASN][1000 genomes]
rs6894474	1.00[ASN][1000 genomes]
rs73743121	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881438	chr5:8728874-9695667	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
2	nsv597071	chr5:9182376-9760599	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1032672	chr5:9182409-9843893	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1035075	chr5:9182584-9843723	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv537641	chr5:9182584-9843723	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1034637	chr5:9182784-9741743	Genic enhancers Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv537642	chr5:9182784-9741743	Enhancers Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv1028656	chr5:9196001-9837040	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv1022137	chr5:9225121-9745434	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv537643	chr5:9225121-9745434	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv1022574	chr5:9314645-9647238	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv869120	chr5:9491731-10149255	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
13	nsv1023329	chr5:9543307-9731720	Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv529455	chr5:9570606-10269569	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	99 gene(s)	inside rSNPs	diseases
15	nsv1021115	chr5:9609873-9714831	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	nsv1031121	chr5:9617702-10155550	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
17	nsv537645	chr5:9617702-10155550	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Autism	19812673	GWAS catalog

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:9603400-9625400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:9614000-9628200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:9621200-9624200	Enhancers	NHDF-Ad	bronchial
4	chr5:9621200-9624400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:9621200-9625000	Enhancers	Osteobl	bone
6	chr5:9621400-9623800	Enhancers	Stomach Mucosa	stomach
7	chr5:9621400-9625000	Enhancers	NH-A	brain
8	chr5:9621600-9624000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:9621800-9623800	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr5:9621800-9624600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr5:9621800-9624800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr5:9622000-9625000	Enhancers	NHLF	lung
13	chr5:9622200-9624600	Enhancers	HSMMtube	muscle
14	chr5:9622600-9624400	Enhancers	Placenta Amnion	Placenta Amnion
15	chr5:9622600-9624600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr5:9622800-9623800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:9623000-9623800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr5:9623000-9624000	Enhancers	Fetal Brain Female	brain
19	chr5:9623200-9624000	Enhancers	GM12878-XiMat	blood
20	chr5:9623200-9625000	Enhancers	Fetal Muscle Leg	muscle
21	chr5:9623400-9624000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:9623400-9624000	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr5:9623400-9625000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr5:9623600-9624200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:9623600-9624600	Flanking Active TSS	Fetal Heart	heart

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