Variant report

Variant	rs10157394
Chromosome Location	chr1:154786723-154786724
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:154701691..154703302-chr1:154784889..154786881,2	K562	blood:
2	chr1:154785282..154787283-chr1:154792966..154794709,2	K562	blood:
3	chr1:154780124..154782287-chr1:154785126..154787392,2	K562	blood:
4	chr1:154767709..154770416-chr1:154785808..154787544,2	MCF-7	breast:
5	chr1:154783206..154790651-chr1:154790786..154795764,8	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs13374415	1.00[AMR][1000 genomes]
rs57453542	1.00[AMR][1000 genomes]
rs58674727	1.00[AMR][1000 genomes]
rs60328853	1.00[AMR][1000 genomes]
rs61104084	1.00[AMR][1000 genomes]
rs6690287	1.00[AMR][1000 genomes]
rs73001459	1.00[AMR][1000 genomes]
rs73001465	1.00[AMR][1000 genomes]
rs73001483	1.00[AMR][1000 genomes]
rs73003213	1.00[AMR][1000 genomes]
rs73003288	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
2	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
3	nsv427797	chr1:154559115-154933717	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv470740	chr1:154568683-154796895	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv464050	chr1:154568683-154801247	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv547958	chr1:154568683-154801247	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154780800-154786800	Weak transcription	Brain Substantia Nigra	brain
2	chr1:154783200-154792600	Weak transcription	Lung	lung
3	chr1:154783400-154787800	Weak transcription	Thymus	Thymus
4	chr1:154783400-154788800	Weak transcription	Colon Smooth Muscle	Colon
5	chr1:154783800-154787200	Weak transcription	GM12878-XiMat	blood
6	chr1:154784000-154786800	Enhancers	H1 Cell Line	embryonic stem cell
7	chr1:154784200-154787400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:154784200-154787400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:154785000-154786800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:154785000-154786800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr1:154785000-154787000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:154785200-154786800	Bivalent Enhancer	Fetal Stomach	stomach
13	chr1:154785200-154787000	Enhancers	Brain Anterior Caudate	brain
14	chr1:154785200-154787000	Enhancers	Brain Cingulate Gyrus	brain
15	chr1:154785200-154787400	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr1:154785400-154786800	Enhancers	HSMMtube	muscle
17	chr1:154785400-154787000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:154785400-154787000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:154785400-154787000	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr1:154785600-154786800	Enhancers	Placenta	Placenta
21	chr1:154785600-154787000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:154785600-154792600	Weak transcription	Right Atrium	heart
23	chr1:154785800-154786800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:154785800-154786800	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr1:154785800-154786800	Enhancers	Esophagus	oesophagus
26	chr1:154785800-154786800	Enhancers	Fetal Brain Male	brain
27	chr1:154785800-154786800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr1:154786000-154786800	Enhancers	Brain Hippocampus Middle	brain
29	chr1:154786000-154787000	Enhancers	Gastric	stomach
30	chr1:154786000-154787400	Enhancers	Fetal Brain Female	brain
31	chr1:154786200-154786800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr1:154786200-154786800	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr1:154786200-154794800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr1:154786400-154786800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:154786400-154787000	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr1:154786400-154787000	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr1:154786400-154787200	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr1:154786600-154786800	Weak transcription	Psoas Muscle	Psoas
39	chr1:154786600-154786800	Enhancers	Rectal Smooth Muscle	rectum
40	chr1:154786600-154786800	Enhancers	Stomach Smooth Muscle	stomach
41	chr1:154786600-154787000	Enhancers	Fetal Muscle Leg	muscle
42	chr1:154786600-154787000	Enhancers	HMEC	breast
43	chr1:154786600-154787000	Enhancers	NHEK	skin
44	chr1:154786600-154787200	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr1:154786600-154788800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:154786600-154791000	Weak transcription	Right Ventricle	heart
47	chr1:154786600-154792200	Weak transcription	Left Ventricle	heart
48	chr1:154786600-154794000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr1:154786600-154801800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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