Variant report

Variant	rs61333083
Chromosome Location	chr1:225665007-225665008
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:225664099..225665880-chr1:226167899..226170601,2	K562	blood:
2	chr1:225661061..225665257-chr1:226163112..226166318,3	K562	blood:
3	chr1:225662746..225665144-chr1:225672666..225674544,2	MCF-7	breast:
4	chr1:225664480..225667161-chr1:225903900..225905865,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10449249	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10915829	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11377355	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12022013	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12026034	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12031651	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12037289	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12038373	0.86[EUR][1000 genomes]
rs12042273	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12042698	0.80[ASN][1000 genomes]
rs12239415	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1340866	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1340870	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1340871	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1340872	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs16845000	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2184778	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2185531	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28620013	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3766931	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3795443	0.84[ASN][1000 genomes]
rs4129816	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55751087	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs56169721	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58269599	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs59912270	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6674621	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6681559	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6684314	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6684956	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6694938	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs74146931	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs74146994	0.96[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs74149835	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs74149844	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7415548	0.86[EUR][1000 genomes]
rs7543444	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
3	esv34905	chr1:225631404-225676582	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv873227	chr1:225656388-225687981	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv8880	chr1:225656408-225687710	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv826842	chr1:225658062-225686586	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv441740	chr1:225659217-225684196	Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs61333083	LBR	cis	Esophagus Muscularis	GTEx
rs61333083	LBR	cis	Artery Tibial	GTEx

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225655600-225677000	Weak transcription	Right Atrium	heart
2	chr1:225660600-225666200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
3	chr1:225660800-225666200	Enhancers	Primary T cells fromperipheralblood	blood
4	chr1:225660800-225666200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr1:225660800-225666800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:225661000-225666200	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr1:225661000-225666200	Enhancers	Fetal Thymus	thymus
8	chr1:225662000-225667000	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr1:225662200-225671800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:225662600-225671800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:225663000-225665400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr1:225663200-225665200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr1:225663200-225665400	Weak transcription	Fetal Muscle Leg	muscle
14	chr1:225663200-225665400	Weak transcription	NHEK	skin
15	chr1:225663200-225665600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:225663200-225665600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:225663200-225665600	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr1:225663200-225665600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr1:225663200-225665600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:225663200-225665600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:225663200-225665600	Weak transcription	Fetal Stomach	stomach
22	chr1:225663200-225665600	Weak transcription	Spleen	Spleen
23	chr1:225663200-225665600	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr1:225663200-225665800	Weak transcription	HSMMtube	muscle
25	chr1:225663200-225666200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr1:225663200-225668600	Weak transcription	Fetal Intestine Large	intestine
27	chr1:225663200-225668600	Weak transcription	Pancreas	Pancrea
28	chr1:225663200-225668600	Weak transcription	Stomach Mucosa	stomach
29	chr1:225663200-225668800	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr1:225663200-225668800	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr1:225663200-225669800	Weak transcription	Ovary	ovary
32	chr1:225663200-225670200	Weak transcription	Osteobl	bone
33	chr1:225663200-225683800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr1:225663200-225686400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:225663200-225696400	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr1:225663400-225665200	Weak transcription	Primary B cells from cord blood	blood
37	chr1:225663400-225665200	Weak transcription	HMEC	breast
38	chr1:225663400-225665400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr1:225663400-225665400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr1:225663400-225665400	Weak transcription	Esophagus	oesophagus
41	chr1:225663400-225665400	Weak transcription	Fetal Muscle Trunk	muscle
42	chr1:225663400-225665400	Weak transcription	Placenta	Placenta
43	chr1:225663400-225665600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr1:225663400-225665600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr1:225663400-225667400	Weak transcription	Fetal Brain Male	brain
46	chr1:225663400-225668400	Weak transcription	Duodenum Mucosa	Duodenum
47	chr1:225663400-225668800	Weak transcription	Brain Germinal Matrix	brain
48	chr1:225663400-225668800	Weak transcription	Fetal Brain Female	brain
49	chr1:225663400-225668800	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr1:225663400-225669000	Weak transcription	Rectal Smooth Muscle	rectum

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