Variant report

Variant	rs1891220
Chromosome Location	chr1:69997867-69997868
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1065629	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10889835	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1145922	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1145924	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12049210	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1245039	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1245040	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1245043	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1245046	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1245047	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1245049	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1245053	1.00[JPT][hapmap]
rs1245054	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1245058	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1245063	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1245070	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1245072	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1264407	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1264408	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1264409	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1270432	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1271928	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1341778	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1341781	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1341791	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1361613	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1619463	1.00[CHB][hapmap]
rs1623673	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1631834	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17324599	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17396516	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1749459	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1749473	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1749484	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1749492	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1749494	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1749496	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1749497	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1749499	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1749504	1.00[JPT][hapmap]
rs1749507	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1749515	1.00[JPT][hapmap]
rs1749517	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1773309	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1773321	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1773325	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1773327	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1773332	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1773333	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1773335	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1773336	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1773337	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1773339	1.00[JPT][hapmap]
rs1773340	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1773344	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1773346	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1773348	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1773350	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2147785	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs227102	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs227104	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs227105	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs227108	1.00[JPT][hapmap]
rs227114	1.00[JPT][hapmap]
rs2764530	1.00[JPT][hapmap]
rs2764532	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 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	nsv436273	chr1:69996026-70002655	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv3453318	chr1:69996377-70002707	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3453319	chr1:69996377-70002707	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv20770	chr1:69996393-70002209	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv1806300	chr1:69996616-70000991	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv1809309	chr1:69996616-70001259	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv1812760	chr1:69996616-70001259	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv1805388	chr1:69996616-70019811	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv1807543	chr1:69996616-70019811	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv1809423	chr1:69996616-70019811	Weak transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv1810945	chr1:69996616-70019811	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv1804338	chr1:69996830-69999279	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
15	esv1806204	chr1:69996830-69999279	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1891220	LRRC7	cis	Thyroid	GTEx

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:69995000-69998800	Weak transcription	NHEK	skin
2	chr1:69997800-69998000	Enhancers	K562	blood

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