Variant report

Variant	rs60588592
Chromosome Location	chr1:225794626-225794627
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:225792350..225796305-chr1:225796696..225799620,4	MCF-7	breast:
2	chr1:225792909..225795707-chr1:225797297..225800991,3	K562	blood:
3	chr1:225792909..225794753-chr1:225799491..225801344,2	K562	blood:
4	chr1:225790028..225792726-chr1:225793823..225796331,3	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11801322	0.90[AFR][1000 genomes]
rs11808089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28617210	0.85[AFR][1000 genomes]
rs57616580	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58221350	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58384340	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59481688	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60271197	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6426081	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6666276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6687755	0.98[AFR][1000 genomes]
rs6687947	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6696683	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6698989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6702446	1.00[ASN][1000 genomes]
rs73124025	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73125705	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73125706	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7515673	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7531033	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7555097	0.93[AMR][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

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225748800-225799400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:225760000-225820600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:225768800-225805600	Weak transcription	Aorta	Aorta
4	chr1:225776400-225797200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr1:225780800-225815400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:225781000-225825400	Weak transcription	Fetal Stomach	stomach
7	chr1:225782000-225795000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr1:225782400-225795200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr1:225782400-225806200	Weak transcription	Right Ventricle	heart
10	chr1:225784200-225807800	Weak transcription	Fetal Brain Male	brain
11	chr1:225785200-225800000	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr1:225788400-225795000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:225788400-225795200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr1:225788400-225796200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr1:225788600-225794800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:225790400-225794800	Weak transcription	Brain Germinal Matrix	brain
17	chr1:225791200-225798800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:225791400-225796600	Weak transcription	Brain Angular Gyrus	brain
19	chr1:225791600-225795000	Weak transcription	Brain Hippocampus Middle	brain
20	chr1:225791600-225795200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr1:225791600-225795400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr1:225791600-225796600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:225791600-225799600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:225791600-225802000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:225792000-225794800	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr1:225792000-225799600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:225792000-225805000	Weak transcription	NHDF-Ad	bronchial
28	chr1:225792200-225795000	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr1:225792200-225795000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:225792200-225800000	Weak transcription	Hela-S3	cervix
31	chr1:225792800-225795200	Weak transcription	NHLF	lung
32	chr1:225792800-225799600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:225793000-225794800	Weak transcription	Stomach Mucosa	stomach
34	chr1:225793000-225795000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:225793000-225795600	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr1:225793000-225796600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr1:225793000-225799200	Weak transcription	NHEK	skin
38	chr1:225793200-225794800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr1:225793200-225795400	Enhancers	Ovary	ovary
40	chr1:225793200-225795800	Enhancers	Right Atrium	heart
41	chr1:225793200-225799600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:225793400-225795000	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr1:225793400-225795000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr1:225793400-225795000	Weak transcription	A549	lung
45	chr1:225793400-225795400	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr1:225793400-225795600	Enhancers	Rectal Smooth Muscle	rectum
47	chr1:225793600-225794800	Weak transcription	Colon Smooth Muscle	Colon
48	chr1:225793600-225794800	Weak transcription	Small Intestine	intestine
49	chr1:225793600-225795000	Weak transcription	Fetal Heart	heart
50	chr1:225793600-225795000	Weak transcription	HepG2	liver

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