Variant report

Variant	rs73881419
Chromosome Location	chr22:30635231-30635232
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HORMAD2-1	chr22:30635183-30635267	ENSG00000232530.1

Extended variants
information (count: 18 )
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]
rs73881407	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: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:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30625200-30637000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr22:30630800-30635600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr22:30630800-30636600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr22:30631400-30637400	Weak transcription	Fetal Brain Male	brain
5	chr22:30631400-30639800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr22:30631400-30641600	Weak transcription	Right Atrium	heart
7	chr22:30631600-30636400	Enhancers	HSMM	muscle
8	chr22:30631800-30639400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr22:30632000-30636600	Weak transcription	Colonic Mucosa	Colon
10	chr22:30632000-30638600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr22:30632000-30641400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr22:30632400-30638600	Weak transcription	Spleen	Spleen
13	chr22:30632400-30639600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr22:30632400-30640800	Weak transcription	Lung	lung
15	chr22:30632600-30639400	Weak transcription	NHDF-Ad	bronchial
16	chr22:30632600-30641000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr22:30632600-30641400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr22:30632600-30645200	Weak transcription	Hela-S3	cervix
19	chr22:30632800-30637000	Weak transcription	HMEC	breast
20	chr22:30633000-30635600	Weak transcription	Osteobl	bone
21	chr22:30633000-30636800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr22:30633400-30635600	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr22:30633400-30636000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr22:30633600-30637200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
25	chr22:30633600-30638400	Bivalent Enhancer	Fetal Muscle Leg	muscle
26	chr22:30633800-30635600	Enhancers	Fetal Intestine Large	intestine
27	chr22:30633800-30635800	Enhancers	Muscle Satellite Cultured Cells	--
28	chr22:30633800-30640200	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr22:30634000-30635800	Enhancers	Ovary	ovary
30	chr22:30634000-30636600	Enhancers	Fetal Stomach	stomach
31	chr22:30634000-30637600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr22:30634000-30638400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr22:30634000-30640400	Weak transcription	Dnd41	blood
34	chr22:30634000-30646800	Genic enhancers	A549	lung
35	chr22:30634200-30635400	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr22:30634200-30636000	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr22:30634400-30636000	Enhancers	Fetal Lung	lung
38	chr22:30634600-30635600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr22:30634600-30635800	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr22:30634600-30636400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr22:30634800-30635400	Flanking Active TSS	HSMMtube	muscle
42	chr22:30634800-30636800	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr22:30635000-30635400	Bivalent Enhancer	Placenta	Placenta
44	chr22:30635000-30635400	Enhancers	NH-A	brain
45	chr22:30635000-30635600	Enhancers	H9 Cell Line	embryonic stem cell
46	chr22:30635000-30635600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr22:30635000-30635600	Enhancers	Esophagus	oesophagus
48	chr22:30635000-30637400	Weak transcription	Fetal Thymus	thymus
49	chr22:30635000-30637400	Weak transcription	Stomach Mucosa	stomach
50	chr22:30635000-30639600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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