Variant report

Variant	rs73881416
Chromosome Location	chr22:30625255-30625256
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	chr22:30619504..30622995-chr22:30623297..30627180,5	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs59254906	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73400629	1.00[EUR][1000 genomes]
rs73881415	1.00[AMR][1000 genomes]
rs73881417	1.00[AMR][1000 genomes]
rs73881421	1.00[AMR][1000 genomes]
rs73881422	1.00[AMR][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	nsv834173	chr22:30515092-30658277	Enhancers ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv432239	chr22:30580161-30669883	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	nsv914968	chr22:30610570-30693581	Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv914969	chr22:30619599-30691631	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv914970	chr22:30619599-30850395	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
7	nsv834174	chr22:30619760-30746915	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30615400-30626000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr22:30615600-30627000	Weak transcription	K562	blood
3	chr22:30619200-30625600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr22:30619600-30625800	Enhancers	HMEC	breast
5	chr22:30619800-30625600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr22:30620000-30625600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr22:30621800-30625600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr22:30622200-30625600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr22:30622600-30625600	Enhancers	NHEK	skin
10	chr22:30623800-30625600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr22:30623800-30628200	Weak transcription	Fetal Kidney	kidney
12	chr22:30624200-30625400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr22:30624200-30625800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr22:30624400-30625400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr22:30624400-30625400	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr22:30624400-30625400	Enhancers	NH-A	brain
17	chr22:30624400-30625600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr22:30624400-30628400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr22:30624600-30625400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr22:30624600-30625400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr22:30624600-30625600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr22:30624600-30625600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr22:30624600-30625600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr22:30624800-30625400	Enhancers	H1 Cell Line	embryonic stem cell
25	chr22:30624800-30625400	Enhancers	H9 Cell Line	embryonic stem cell
26	chr22:30624800-30625400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr22:30624800-30625400	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr22:30624800-30625400	Bivalent Enhancer	Fetal Stomach	stomach
29	chr22:30624800-30625600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
30	chr22:30624800-30625600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr22:30624800-30625600	Bivalent Enhancer	Fetal Muscle Leg	muscle
32	chr22:30624800-30625600	Enhancers	Spleen	Spleen
33	chr22:30624800-30625600	Bivalent Enhancer	HepG2	liver
34	chr22:30624800-30625800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr22:30625000-30625400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr22:30625000-30625400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr22:30625000-30625400	Enhancers	Esophagus	oesophagus
38	chr22:30625000-30625600	Bivalent Enhancer	Placenta	Placenta
39	chr22:30625000-30625600	Enhancers	Lung	lung
40	chr22:30625000-30628600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr22:30625000-30628800	Weak transcription	Osteobl	bone
42	chr22:30625200-30625400	Enhancers	Hela-S3	cervix
43	chr22:30625200-30625600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr22:30625200-30626000	Enhancers	A549	lung
45	chr22:30625200-30628400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr22:30625200-30628600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr22:30625200-30628600	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr22:30625200-30628600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr22:30625200-30628800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr22:30625200-30630600	Weak transcription	Muscle Satellite Cultured Cells	--

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