Variant report

Variant	rs58313554
Chromosome Location	chr2:189432129-189432130
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs57280605	0.95[AFR][1000 genomes]
rs58571834	0.83[AFR][1000 genomes]
rs58988512	1.00[AFR][1000 genomes]
rs59306210	1.00[AFR][1000 genomes]
rs60584308	1.00[AFR][1000 genomes]
rs61616655	1.00[AFR][1000 genomes]
rs6710263	0.83[AFR][1000 genomes]
rs6722581	0.95[AFR][1000 genomes]
rs7566545	0.95[AFR][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	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
5	esv3432055	chr2:189427107-189432305	Weak transcription Strong transcription	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 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	chr2:189420200-189454800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:189420600-189463200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:189421400-189450000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr2:189422800-189448800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:189423000-189449800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:189424200-189433400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:189424200-189449800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr2:189424400-189438000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr2:189424800-189433800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:189425200-189433600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:189425200-189433600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr2:189425200-189433600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:189425200-189434000	Weak transcription	Fetal Intestine Large	intestine
20	chr2:189425600-189433600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr2:189425600-189434000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:189426000-189449800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr2:189426200-189433200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:189426200-189433400	Weak transcription	Fetal Lung	lung
25	chr2:189426400-189434000	Weak transcription	Placenta	Placenta
26	chr2:189426600-189456200	Weak transcription	Gastric	stomach
27	chr2:189426800-189445800	Weak transcription	Fetal Stomach	stomach
28	chr2:189427000-189439000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:189427000-189449000	Weak transcription	Fetal Intestine Small	intestine
30	chr2:189427200-189445600	Weak transcription	Aorta	Aorta
31	chr2:189429000-189436200	Weak transcription	Fetal Kidney	kidney
32	chr2:189429600-189434000	Weak transcription	Ovary	ovary
33	chr2:189431000-189433000	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr2:189431200-189433800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:189431400-189463200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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