Variant report

Variant	rs723993
Chromosome Location	chr1:70114729-70114730
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	chr1:69984546..69987365-chr1:70114241..70116970,2	K562	blood:

Extended variants
information (count: 115 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:111)

rs_ID	r²[population]
rs1012785	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1012786	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1014882	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1145922	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1145923	0.93[ASN][1000 genomes]
rs1145924	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1145925	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1145926	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1145927	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1145928	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1145929	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1145930	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1145931	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1154974	0.93[ASN][1000 genomes]
rs1245043	0.80[ASN][1000 genomes]
rs1245045	0.80[ASN][1000 genomes]
rs1245046	0.80[ASN][1000 genomes]
rs1245047	0.80[ASN][1000 genomes]
rs1245049	0.80[ASN][1000 genomes]
rs1245050	0.80[ASN][1000 genomes]
rs1245052	0.80[ASN][1000 genomes]
rs1245054	0.80[ASN][1000 genomes]
rs1245056	0.80[ASN][1000 genomes]
rs1245057	0.80[ASN][1000 genomes]
rs1245058	0.80[ASN][1000 genomes]
rs1245061	0.80[ASN][1000 genomes]
rs1245063	0.80[ASN][1000 genomes]
rs1245067	0.80[ASN][1000 genomes]
rs1245068	0.80[ASN][1000 genomes]
rs1245069	0.80[ASN][1000 genomes]
rs1245070	0.80[ASN][1000 genomes]
rs1245072	0.93[ASN][1000 genomes]
rs1261871	0.80[ASN][1000 genomes]
rs1264402	0.93[ASN][1000 genomes]
rs1264403	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1264404	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1264405	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1264407	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1264408	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1264409	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1264410	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1264411	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1270434	0.80[ASN][1000 genomes]
rs1270435	0.80[ASN][1000 genomes]
rs1271928	0.80[ASN][1000 genomes]
rs1341779	0.80[ASN][1000 genomes]
rs1341780	0.80[ASN][1000 genomes]
rs1341781	0.80[ASN][1000 genomes]
rs1361613	0.80[ASN][1000 genomes]
rs1418007	0.80[ASN][1000 genomes]
rs1418008	0.80[ASN][1000 genomes]
rs1418012	0.80[ASN][1000 genomes]
rs1615332	0.80[ASN][1000 genomes]
rs1618786	0.80[ASN][1000 genomes]
rs1619463	0.80[ASN][1000 genomes]
rs1622158	0.80[ASN][1000 genomes]
rs1622893	0.80[ASN][1000 genomes]
rs1623673	0.80[ASN][1000 genomes]
rs1625490	0.80[ASN][1000 genomes]
rs1627769	0.80[ASN][1000 genomes]
rs1628716	0.80[ASN][1000 genomes]
rs1631834	0.80[ASN][1000 genomes]
rs1749459	0.80[ASN][1000 genomes]
rs1749473	0.80[ASN][1000 genomes]
rs1749485	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1749497	0.80[ASN][1000 genomes]
rs1749498	0.80[ASN][1000 genomes]
rs1749499	0.80[ASN][1000 genomes]
rs1749500	0.80[ASN][1000 genomes]
rs1749502	0.80[ASN][1000 genomes]
rs1749506	0.80[ASN][1000 genomes]
rs1749507	0.80[ASN][1000 genomes]
rs1749508	0.80[ASN][1000 genomes]
rs1749512	0.80[ASN][1000 genomes]
rs1749514	0.80[ASN][1000 genomes]
rs1749517	0.80[ASN][1000 genomes]
rs1749520	0.80[ASN][1000 genomes]
rs1773309	0.80[ASN][1000 genomes]
rs1773314	0.80[ASN][1000 genomes]
rs1773315	0.80[ASN][1000 genomes]
rs1773316	0.80[ASN][1000 genomes]
rs1773317	0.80[ASN][1000 genomes]
rs1773318	0.80[ASN][1000 genomes]
rs1773320	0.80[ASN][1000 genomes]
rs1773321	0.80[ASN][1000 genomes]
rs1773322	0.80[ASN][1000 genomes]
rs1773324	0.80[ASN][1000 genomes]
rs1773325	0.80[ASN][1000 genomes]
rs1773327	0.80[ASN][1000 genomes]
rs1773329	0.80[ASN][1000 genomes]
rs1773330	0.80[ASN][1000 genomes]
rs1773332	0.80[ASN][1000 genomes]
rs1773333	0.80[ASN][1000 genomes]
rs1773336	0.80[ASN][1000 genomes]
rs1773337	0.80[ASN][1000 genomes]
rs1773338	0.80[ASN][1000 genomes]
rs1773350	0.80[ASN][1000 genomes]
rs2094038	0.80[ASN][1000 genomes]
rs2209456	0.80[ASN][1000 genomes]
rs227102	0.80[ASN][1000 genomes]
rs227104	0.80[ASN][1000 genomes]
rs227105	0.80[ASN][1000 genomes]
rs2487762	0.80[ASN][1000 genomes]
rs2487763	0.80[ASN][1000 genomes]
rs2487764	0.80[ASN][1000 genomes]
rs2764522	0.80[ASN][1000 genomes]
rs2764534	0.80[ASN][1000 genomes]
rs2764535	0.80[ASN][1000 genomes]
rs966069	0.80[ASN][1000 genomes]
rs966070	0.80[ASN][1000 genomes]
rs966071	0.80[ASN][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	nsv949691	chr1:69749722-70302201	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3384194	chr1:69885024-70275430	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830126	chr1:70014879-70167979	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv2764189	chr1:70111889-70137513	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs723993	LRRC7	cis	Thyroid	GTEx

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70106200-70126000	Weak transcription	Brain Cingulate Gyrus	brain
2	chr1:70112400-70117400	Weak transcription	Pancreas	Pancrea
3	chr1:70112400-70126000	Weak transcription	Brain Anterior Caudate	brain
4	chr1:70113000-70115800	Enhancers	Primary T cells from cord blood	blood
5	chr1:70113200-70115000	Weak transcription	Fetal Brain Female	brain
6	chr1:70114000-70115400	Enhancers	Fetal Brain Male	brain
7	chr1:70114200-70120800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:70114600-70118200	Weak transcription	Brain Hippocampus Middle	brain

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