Variant report

Variant	rs1340866
Chromosome Location	chr1:225626149-225626150
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:225621659..225624533-chr1:225625428..225627724,2	K562	blood:
2	chr1:225625683..225626268-chr1:225662425..225662953,2	MCF-7	breast:
3	chr1:225624616..225627313-chr1:225629301..225631350,2	MCF-7	breast:
4	chr1:225625723..225627674-chr1:225628168..225630049,2	K562	blood:
5	chr1:225506454..225506954-chr1:225625445..225626402,2	MCF-7	breast:
6	chr1:225625909..225628498-chr1:225632163..225635027,3	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10449249	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10915829	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11377355	0.84[AMR][1000 genomes]
rs12022013	0.84[AMR][1000 genomes]
rs12026034	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12239415	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1340870	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1340871	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1340872	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16845000	0.86[AMR][1000 genomes]
rs2184778	0.84[AMR][1000 genomes]
rs2185531	0.84[AMR][1000 genomes]
rs28620013	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3766931	0.84[AMR][1000 genomes]
rs55751087	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58269599	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59912270	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61333083	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6681559	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6684314	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6684956	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6694938	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs74146931	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74146994	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7543444	0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832714	chr1:225592333-225805396	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1004851	chr1:225614140-225684184	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1340866	LBR	cis	Artery Tibial	GTEx
rs1340866	LBR	cis	Esophagus Muscularis	GTEx

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225617400-225626600	Weak transcription	Dnd41	blood
2	chr1:225619600-225629000	Weak transcription	Spleen	Spleen
3	chr1:225624200-225626200	Enhancers	Primary B cells from cord blood	blood
4	chr1:225624400-225628200	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr1:225624400-225629000	Weak transcription	GM12878-XiMat	blood
6	chr1:225624600-225627600	Weak transcription	Fetal Intestine Small	intestine
7	chr1:225624800-225627600	Weak transcription	HepG2	liver
8	chr1:225625200-225626600	Enhancers	Stomach Smooth Muscle	stomach
9	chr1:225625400-225626800	Enhancers	Thymus	Thymus
10	chr1:225625400-225636000	Enhancers	Colon Smooth Muscle	Colon
11	chr1:225625600-225626200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr1:225625800-225626400	Enhancers	Rectal Smooth Muscle	rectum
13	chr1:225625800-225626600	Enhancers	Fetal Stomach	stomach
14	chr1:225625800-225626600	Enhancers	K562	blood
15	chr1:225625800-225626800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:225625800-225627000	Enhancers	Fetal Thymus	thymus
17	chr1:225625800-225627600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr1:225626000-225626200	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr1:225626000-225626200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:225626000-225626200	Enhancers	Fetal Kidney	kidney
21	chr1:225626000-225626400	Enhancers	Hela-S3	cervix
22	chr1:225626000-225626800	Enhancers	Primary hematopoietic stem cells	blood
23	chr1:225626000-225627600	Weak transcription	Duodenum Mucosa	Duodenum
24	chr1:225626000-225629000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr1:225626000-225629400	Weak transcription	Primary B cells from peripheral blood	blood
26	chr1:225626000-225636200	Enhancers	Fetal Intestine Large	intestine

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