Variant report

Variant	rs73881407
Chromosome Location	chr22:30609085-30609086
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	chr22:30584661..30587555-chr22:30606550..30610248,3	MCF-7	breast:
2	chr22:30604426..30607194-chr22:30608754..30611954,4	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12157860	1.00[AMR][1000 genomes]
rs57907583	1.00[AMR][1000 genomes]
rs5997621	1.00[AMR][1000 genomes]
rs7287885	1.00[AMR][1000 genomes]
rs7291572	1.00[AMR][1000 genomes]
rs73881419	1.00[AMR][1000 genomes]
rs73881429	1.00[AMR][1000 genomes]
rs73881440	1.00[AMR][1000 genomes]
rs73881449	1.00[AMR][1000 genomes]
rs8137033	1.00[AMR][1000 genomes]
rs8142835	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	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30597600-30609800	Enhancers	Stomach Mucosa	stomach
2	chr22:30597600-30610000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr22:30600400-30610000	Enhancers	HMEC	breast
4	chr22:30601000-30610000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr22:30601800-30609800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr22:30601800-30610400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr22:30603000-30609800	Enhancers	Osteobl	bone
8	chr22:30603400-30610600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr22:30603600-30610600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr22:30603800-30613600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr22:30605000-30609600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr22:30605400-30609400	Weak transcription	Colonic Mucosa	Colon
13	chr22:30605400-30613400	Weak transcription	Aorta	Aorta
14	chr22:30605600-30610600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr22:30605600-30622600	Weak transcription	Right Atrium	heart
16	chr22:30606000-30609200	Weak transcription	Ovary	ovary
17	chr22:30606000-30609800	Enhancers	Esophagus	oesophagus
18	chr22:30606800-30609600	Enhancers	HSMM	muscle
19	chr22:30606800-30613800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr22:30607000-30609200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr22:30607000-30609200	Enhancers	Hela-S3	cervix
22	chr22:30607000-30610000	Enhancers	HepG2	liver
23	chr22:30607000-30610600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr22:30607000-30610600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr22:30607400-30609400	Enhancers	Gastric	stomach
26	chr22:30607600-30609600	Enhancers	Pancreas	Pancrea
27	chr22:30607800-30609600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr22:30607800-30609600	Enhancers	Lung	lung
29	chr22:30607800-30610400	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr22:30608000-30609600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr22:30608000-30609800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr22:30608000-30609800	Enhancers	Muscle Satellite Cultured Cells	--
33	chr22:30608200-30609200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr22:30608200-30609200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr22:30608200-30609800	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr22:30608200-30609800	Enhancers	NHLF	lung
37	chr22:30608200-30610000	Enhancers	NH-A	brain
38	chr22:30608400-30609200	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr22:30608400-30609400	Enhancers	Brain Hippocampus Middle	brain
40	chr22:30608400-30609400	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr22:30608400-30609400	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr22:30608400-30609400	Enhancers	K562	blood
43	chr22:30608400-30609600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr22:30608400-30609600	Enhancers	Primary hematopoietic stem cells	blood
45	chr22:30608400-30609600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr22:30608400-30609600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr22:30608400-30609600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr22:30608400-30609600	Bivalent Enhancer	Adipose Nuclei	Adipose
49	chr22:30608400-30609600	Enhancers	Duodenum Mucosa	Duodenum
50	chr22:30608400-30609600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle

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