Variant report

Variant	rs73042451
Chromosome Location	chr2:189426564-189426565
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11679949	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11685643	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs56891673	1.00[AFR][1000 genomes]
rs57067423	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs57246854	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73040476	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73040484	0.83[AMR][1000 genomes]
rs73040494	0.83[AMR][1000 genomes]
rs73040496	0.83[AMR][1000 genomes]
rs73040500	0.83[AMR][1000 genomes]
rs73040502	0.83[AMR][1000 genomes]
rs73042418	0.83[AMR][1000 genomes]
rs73042427	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73042428	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73042430	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73042433	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7421510	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv584055	chr2:189266823-189493686	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv834489	chr2:189329027-189494224	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv1003974	chr2:189331760-189827814	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv533110	chr2:189354436-189462552	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189384800-189442200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:189388200-189434000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr2:189414400-189433600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr2:189414600-189453600	Weak transcription	HUVEC	blood vessel
5	chr2:189416400-189433600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr2:189417000-189445600	Weak transcription	NHLF	lung
7	chr2:189419800-189426600	Weak transcription	A549	lung
8	chr2:189420200-189454800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:189420600-189463200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:189421200-189428000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr2:189421400-189450000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr2:189422800-189448800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:189423000-189449800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:189424200-189428000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:189424200-189433400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:189424200-189449800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr2:189424400-189438000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr2:189424800-189433800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr2:189425200-189433600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr2:189425200-189433600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr2:189425200-189433600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:189425200-189434000	Weak transcription	Fetal Intestine Large	intestine
23	chr2:189425400-189427000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:189425400-189430200	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr2:189425600-189427000	Strong transcription	Fetal Intestine Small	intestine
26	chr2:189425600-189433600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr2:189425600-189434000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:189425800-189426600	ZNF genes & repeats	Aorta	Aorta
29	chr2:189425800-189426800	ZNF genes & repeats	Fetal Stomach	stomach
30	chr2:189426000-189449800	Weak transcription	Fetal Muscle Trunk	muscle
31	chr2:189426200-189433200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:189426200-189433400	Weak transcription	Fetal Lung	lung
33	chr2:189426400-189426600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr2:189426400-189426600	Enhancers	Gastric	stomach
35	chr2:189426400-189426800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr2:189426400-189430600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr2:189426400-189434000	Weak transcription	Placenta	Placenta

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