Variant report

Variant	rs74149844
Chromosome Location	chr1:225737978-225737979
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:225737824..225740391-chr1:225760266..225761953,2	K562	blood:
2	chr1:225737612..225739805-chr1:225740419..225743221,2	K562	blood:
3	chr1:225737677..225740611-chr1:225838239..225840667,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000154380	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10449249	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10915829	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11377355	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12022013	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12026034	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12031208	0.83[ASN][1000 genomes]
rs12031651	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12037289	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12038373	0.97[EUR][1000 genomes]
rs12042273	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12042698	0.80[ASN][1000 genomes]
rs12239415	0.82[ASN][1000 genomes]
rs1340870	0.83[ASN][1000 genomes]
rs1340871	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1340872	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs16845000	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2184778	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2185531	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2296880	0.89[EUR][1000 genomes]
rs2297747	0.83[ASN][1000 genomes]
rs28620013	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3766931	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3795443	0.84[ASN][1000 genomes]
rs4129816	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55751087	0.81[ASN][1000 genomes]
rs56169721	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58269599	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs58696877	0.81[EUR][1000 genomes]
rs59912270	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs61333083	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6674621	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6681559	0.87[ASN][1000 genomes]
rs6684314	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6684956	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6694938	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs74146931	0.82[ASN][1000 genomes]
rs74146994	0.87[ASN][1000 genomes]
rs74149835	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7415548	0.97[EUR][1000 genomes]
rs7543444	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][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	nsv832725	chr1:225726998-225910121	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs74149844	LBR	cis	Artery Tibial	GTEx
rs74149844	LBR	cis	Esophagus Muscularis	GTEx

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225701400-225744400	Weak transcription	HUVEC	blood vessel
2	chr1:225701400-225747000	Weak transcription	Hela-S3	cervix
3	chr1:225705600-225747400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:225707200-225755000	Weak transcription	Gastric	stomach
5	chr1:225717600-225744400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:225717800-225744400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr1:225717800-225745000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr1:225717800-225747400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:225717800-225747400	Weak transcription	Fetal Stomach	stomach
10	chr1:225717800-225758200	Weak transcription	HepG2	liver
11	chr1:225718400-225756400	Weak transcription	NHLF	lung
12	chr1:225722800-225747600	Weak transcription	Fetal Intestine Small	intestine
13	chr1:225723200-225739600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:225726800-225744000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:225727200-225739200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr1:225727400-225744400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr1:225727400-225747600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:225727400-225747600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:225727600-225753600	Weak transcription	NHEK	skin
20	chr1:225728000-225753400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:225728800-225739200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr1:225730000-225744400	Weak transcription	Fetal Muscle Leg	muscle
23	chr1:225730200-225747600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:225730200-225753400	Weak transcription	NHDF-Ad	bronchial
25	chr1:225730200-225753600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr1:225730400-225744000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr1:225730600-225747600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr1:225730600-225765800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr1:225730600-225776200	Weak transcription	Pancreas	Pancrea
30	chr1:225732000-225744400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr1:225732000-225744600	Weak transcription	Fetal Intestine Large	intestine
32	chr1:225732400-225763000	Weak transcription	Rectal Smooth Muscle	rectum
33	chr1:225733000-225744400	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr1:225733600-225744000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:225734000-225744400	Weak transcription	Brain Angular Gyrus	brain
36	chr1:225734400-225744400	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr1:225734600-225763600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr1:225735200-225740200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:225735200-225740200	Strong transcription	NH-A	brain
40	chr1:225735200-225744400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr1:225735400-225738400	Enhancers	Fetal Heart	heart
42	chr1:225735400-225746000	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr1:225735800-225744000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr1:225735800-225744400	Weak transcription	A549	lung
45	chr1:225736400-225742200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:225736600-225738000	Enhancers	Right Atrium	heart
47	chr1:225736600-225744400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr1:225736600-225753400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr1:225736600-225756200	Weak transcription	HSMMtube	muscle
50	chr1:225736800-225744200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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