Variant report

Variant	rs579138
Chromosome Location	chr1:93550096-93550097
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:93547200..93550185-chr1:93552218..93553883,2	K562	blood:
2	chr1:93548731..93551569-chr1:93563538..93565587,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1010476	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2255722	0.80[ASN][1000 genomes]
rs2281524	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2281525	0.83[ASN][1000 genomes]
rs2484486	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2749732	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2783490	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2783493	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2783495	0.80[ASN][1000 genomes]
rs2783496	0.80[ASN][1000 genomes]
rs2783497	0.80[ASN][1000 genomes]
rs2783505	0.80[AMR][1000 genomes]
rs2815406	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2815429	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs489183	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs556446	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61799470	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv830614	chr1:93465978-93678700	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv508404	chr1:93547383-93580012	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93545800-93551000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:93545800-93551000	Weak transcription	Left Ventricle	heart
3	chr1:93545800-93555400	Weak transcription	Spleen	Spleen
4	chr1:93545800-93563200	Weak transcription	Esophagus	oesophagus
5	chr1:93545800-93568000	Weak transcription	Gastric	stomach
6	chr1:93545800-93578400	Weak transcription	Pancreas	Pancrea
7	chr1:93546000-93560600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr1:93546000-93573000	Weak transcription	Placenta	Placenta
9	chr1:93546200-93563200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:93546200-93602200	Weak transcription	Aorta	Aorta
11	chr1:93546400-93550200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:93546400-93551000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:93546400-93553000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr1:93546400-93563200	Weak transcription	Psoas Muscle	Psoas
15	chr1:93546400-93567200	Weak transcription	Right Atrium	heart
16	chr1:93546400-93569400	Weak transcription	Ovary	ovary
17	chr1:93546600-93550400	Transcr. at gene 5' and 3'	Dnd41	blood
18	chr1:93546600-93559000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr1:93546800-93556800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr1:93547000-93550800	Weak transcription	Fetal Stomach	stomach
21	chr1:93547200-93553200	Weak transcription	Fetal Heart	heart
22	chr1:93547200-93559000	Weak transcription	Brain Hippocampus Middle	brain
23	chr1:93547200-93576800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr1:93547400-93551000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr1:93547400-93551200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:93547400-93551800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr1:93547400-93552000	Weak transcription	Colon Smooth Muscle	Colon
28	chr1:93547400-93581800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr1:93547600-93550400	Weak transcription	Brain Germinal Matrix	brain
30	chr1:93547600-93550800	Weak transcription	Liver	Liver
31	chr1:93547600-93551200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr1:93547600-93551200	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr1:93547600-93559400	Weak transcription	Brain Angular Gyrus	brain
34	chr1:93547600-93559400	Weak transcription	Rectal Smooth Muscle	rectum
35	chr1:93547600-93560200	Weak transcription	Brain Cingulate Gyrus	brain
36	chr1:93547600-93580600	Weak transcription	Adipose Nuclei	Adipose
37	chr1:93547600-93580600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr1:93547600-93600000	Weak transcription	HSMMtube	muscle
39	chr1:93547800-93575400	Weak transcription	Hela-S3	cervix
40	chr1:93547800-93580600	Weak transcription	Fetal Kidney	kidney
41	chr1:93548000-93552800	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr1:93548000-93555600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:93548000-93559000	Weak transcription	NHDF-Ad	bronchial
44	chr1:93548000-93601800	Weak transcription	NHLF	lung
45	chr1:93548200-93550200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr1:93548200-93550200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr1:93548200-93550400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr1:93548200-93550600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr1:93548200-93551000	Weak transcription	HUVEC	blood vessel
50	chr1:93548200-93551200	Weak transcription	Muscle Satellite Cultured Cells	--

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