Variant report

Variant	rs56375042
Chromosome Location	chr1:94520451-94520452
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:94517264..94519171-chr1:94520165..94522225,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17392507	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1801581	0.83[EUR][1000 genomes]
rs41292683	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4147835	1.00[EUR][1000 genomes]
rs55712710	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56197337	1.00[EUR][1000 genomes]
rs6658767	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72725166	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72725167	1.00[EUR][1000 genomes]
rs72725169	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72725178	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72725182	1.00[AMR][1000 genomes];0.87[EUR][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	nsv871172	chr1:94504545-94535546	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv871057	chr1:94513142-94577286	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94505800-94523600	Weak transcription	Psoas Muscle	Psoas
2	chr1:94511600-94520800	Weak transcription	Brain Angular Gyrus	brain
3	chr1:94513800-94524800	Weak transcription	Right Ventricle	heart
4	chr1:94514600-94522000	Weak transcription	Aorta	Aorta
5	chr1:94514800-94520800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:94515800-94520600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:94515800-94520600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:94515800-94520800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr1:94515800-94522000	Weak transcription	Lung	lung
10	chr1:94515800-94527200	Weak transcription	Spleen	Spleen
11	chr1:94516000-94520600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:94516000-94521200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:94516800-94520600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:94516800-94520600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr1:94516800-94520800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:94516800-94520800	Weak transcription	HMEC	breast
17	chr1:94516800-94520800	Weak transcription	NHEK	skin
18	chr1:94516800-94521400	Weak transcription	Fetal Muscle Leg	muscle
19	chr1:94516800-94522800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:94517000-94520800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:94517000-94520800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:94517000-94521000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr1:94517200-94520600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:94517200-94520600	Weak transcription	Osteobl	bone
25	chr1:94517200-94521000	Weak transcription	NH-A	brain
26	chr1:94517200-94524200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr1:94517200-94526800	Weak transcription	A549	lung
28	chr1:94517200-94527200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr1:94517400-94520600	Weak transcription	NHDF-Ad	bronchial
30	chr1:94517400-94520800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:94519600-94520800	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr1:94519800-94520600	Enhancers	HSMMtube	muscle
33	chr1:94520000-94520800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr1:94520000-94522600	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr1:94520200-94520600	Enhancers	HepG2	liver
36	chr1:94520200-94521200	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr1:94520200-94521600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr1:94520200-94522400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr1:94520400-94520600	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr1:94520400-94520800	Weak transcription	Left Ventricle	heart
41	chr1:94520400-94521400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr1:94520400-94522400	Enhancers	HSMM	muscle

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