Variant report

Variant	rs74120541
Chromosome Location	chr1:158030368-158030369
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:158020017..158022610-chr1:158028062..158030654,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs6663748	1.00[AMR][1000 genomes]
rs6683431	1.00[EUR][1000 genomes]
rs74120539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74120540	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74120542	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74120543	1.00[AMR][1000 genomes]
rs7526797	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1823720	chr1:157978556-158034017	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	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
3	nsv1005196	chr1:158015996-158065522	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
4	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
5	nsv1003592	chr1:158024499-158061043	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:157997600-158047600	Weak transcription	Dnd41	blood
2	chr1:158001200-158047400	Weak transcription	Thymus	Thymus
3	chr1:158015200-158036400	Weak transcription	Esophagus	oesophagus
4	chr1:158020200-158034800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr1:158023400-158035400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:158023600-158035000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr1:158023600-158036600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr1:158023600-158036800	Weak transcription	NH-A	brain
9	chr1:158023600-158048800	Weak transcription	A549	lung
10	chr1:158023800-158033400	Weak transcription	HSMMtube	muscle
11	chr1:158024400-158033800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr1:158024600-158032000	Enhancers	Placenta	Placenta
13	chr1:158025000-158030600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:158025000-158031400	Enhancers	Fetal Lung	lung
15	chr1:158025000-158031800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:158025000-158033800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:158025600-158030800	Genic enhancers	Fetal Stomach	stomach
18	chr1:158025600-158031200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:158025800-158050000	Weak transcription	Hela-S3	cervix
20	chr1:158026000-158036600	Weak transcription	Aorta	Aorta
21	chr1:158026000-158037600	Weak transcription	Pancreas	Pancrea
22	chr1:158026600-158034200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:158027000-158036600	Weak transcription	Colon Smooth Muscle	Colon
24	chr1:158027400-158031000	Weak transcription	HSMM	muscle
25	chr1:158027600-158031800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:158027600-158035200	Weak transcription	Fetal Heart	heart
27	chr1:158027800-158031600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr1:158028000-158030400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr1:158028200-158031000	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr1:158028200-158031400	Enhancers	Adipose Nuclei	Adipose
31	chr1:158028200-158038800	Weak transcription	HUVEC	blood vessel
32	chr1:158028400-158030400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:158028400-158031000	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr1:158028400-158031200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:158028600-158031000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:158028600-158031000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr1:158028600-158031600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr1:158028600-158032000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:158028600-158036600	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr1:158028800-158030800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr1:158028800-158036400	Weak transcription	Stomach Smooth Muscle	stomach
42	chr1:158028800-158036800	Weak transcription	NHDF-Ad	bronchial
43	chr1:158029000-158030400	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr1:158029000-158030800	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr1:158029000-158030800	Weak transcription	NHEK	skin
46	chr1:158029000-158031000	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr1:158029000-158031000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:158029000-158033200	Weak transcription	Osteobl	bone
49	chr1:158029000-158033400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr1:158029000-158036800	Weak transcription	Rectal Smooth Muscle	rectum

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