Variant report

Variant	rs60047262
Chromosome Location	chr1:158070210-158070211
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:158063066..158067831-chr1:158068647..158073940,6	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs4971189	1.00[AMR][1000 genomes]
rs6683110	1.00[AMR][1000 genomes]
rs73026676	0.87[AFR][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	nsv999542	chr1:158015715-158368132	Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv523208	chr1:158022217-158088687	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158040000-158071800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr1:158048400-158071200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:158063600-158071000	Weak transcription	Left Ventricle	heart
4	chr1:158063600-158071800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr1:158063800-158070800	Weak transcription	Hela-S3	cervix
6	chr1:158064000-158071200	Weak transcription	NH-A	brain
7	chr1:158064200-158071600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:158064600-158070800	Weak transcription	Fetal Kidney	kidney
9	chr1:158064800-158070400	Weak transcription	Fetal Lung	lung
10	chr1:158065200-158073000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:158065200-158076600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr1:158065600-158072600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:158065600-158072800	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr1:158066000-158071600	Weak transcription	Thymus	Thymus
15	chr1:158066200-158070800	Weak transcription	Fetal Intestine Large	intestine
16	chr1:158066200-158073000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:158066600-158071600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr1:158066800-158070600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:158066800-158070800	Weak transcription	NHEK	skin
20	chr1:158066800-158071400	Weak transcription	HSMMtube	muscle
21	chr1:158067000-158071000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:158067000-158082800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:158067400-158072800	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr1:158067400-158072800	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr1:158067800-158073600	Weak transcription	Fetal Brain Female	brain
26	chr1:158068000-158071200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr1:158068000-158078200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:158068200-158071000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:158068200-158078000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:158068400-158073000	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr1:158068600-158071000	Weak transcription	Duodenum Mucosa	Duodenum
32	chr1:158068600-158071000	Weak transcription	Small Intestine	intestine
33	chr1:158068600-158071200	Weak transcription	Osteobl	bone
34	chr1:158068600-158071400	Weak transcription	HSMM	muscle
35	chr1:158068600-158072000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr1:158068800-158072000	Enhancers	Adipose Nuclei	Adipose
37	chr1:158068800-158072200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:158068800-158072400	Weak transcription	Fetal Stomach	stomach
39	chr1:158068800-158076200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:158069000-158070800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:158069000-158071200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:158069000-158071800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr1:158069000-158072000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr1:158069000-158074200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr1:158069200-158071200	Enhancers	Fetal Muscle Leg	muscle
46	chr1:158069400-158070400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr1:158069400-158071000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr1:158069400-158071600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr1:158069400-158072200	Enhancers	NHLF	lung
50	chr1:158069600-158071000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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