Variant report

Variant	rs73158457
Chromosome Location	chr22:27814217-27814218
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:27813673..27816169-chr22:27820833..27822951,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11705548	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13055229	0.87[ASN][1000 genomes]
rs16984522	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56237734	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5752541	0.85[EUR][1000 genomes]
rs5762126	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5762127	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5762128	0.90[AFR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5762130	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5762131	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5762132	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5762138	0.87[ASN][1000 genomes]
rs66658246	0.87[ASN][1000 genomes]
rs8184960	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3413125	chr22:27404463-28121577	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv459860	chr22:27527005-28181436	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv588872	chr22:27527005-28181436	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv834166	chr22:27628570-27814359	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv834167	chr22:27758395-27910985	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv459864	chr22:27760086-27865344	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv588875	chr22:27760086-27865344	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr22:27811200-27814600	Enhancers	Fetal Brain Male	brain
2	chr22:27812600-27816800	Enhancers	HUVEC	blood vessel
3	chr22:27812600-27817000	Enhancers	NH-A	brain
4	chr22:27812600-27817800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr22:27812800-27816600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr22:27812800-27817400	Weak transcription	Fetal Thymus	thymus
7	chr22:27813000-27815000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr22:27813000-27816200	Weak transcription	Right Atrium	heart
9	chr22:27813200-27815600	Weak transcription	Fetal Kidney	kidney
10	chr22:27813200-27816400	Weak transcription	NHLF	lung
11	chr22:27813400-27814800	Weak transcription	Brain Substantia Nigra	brain
12	chr22:27813400-27814800	Weak transcription	HSMMtube	muscle
13	chr22:27813400-27815200	Weak transcription	HSMM	muscle
14	chr22:27813400-27815400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr22:27813400-27815400	Weak transcription	Colon Smooth Muscle	Colon
16	chr22:27813400-27816400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr22:27813400-27816400	Weak transcription	Ovary	ovary
18	chr22:27813600-27814600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr22:27813600-27814800	Weak transcription	NHEK	skin
20	chr22:27813600-27815200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr22:27813600-27816400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr22:27813600-27816400	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr22:27813800-27814800	Weak transcription	HMEC	breast
24	chr22:27813800-27815000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr22:27813800-27815000	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr22:27813800-27815200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr22:27813800-27815200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr22:27813800-27815400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr22:27813800-27816400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr22:27813800-27816400	Weak transcription	Fetal Lung	lung
31	chr22:27813800-27816400	Weak transcription	NHDF-Ad	bronchial
32	chr22:27813800-27816800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr22:27813800-27817200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr22:27813800-27817400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr22:27813800-27817600	Enhancers	Brain Germinal Matrix	brain
36	chr22:27814000-27814400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr22:27814000-27815200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr22:27814000-27816200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr22:27814000-27816400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr22:27814000-27816400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr22:27814000-27816600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr22:27814000-27816800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr22:27814000-27817000	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr22:27814200-27815400	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr22:27814200-27815600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr22:27814200-27816400	Weak transcription	Gastric	stomach
47	chr22:27814200-27816600	Weak transcription	Fetal Brain Female	brain
48	chr22:27814200-27816800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr22:27814200-27817800	Enhancers	Pancreas	Pancrea

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