Variant report

Variant	rs1996388
Chromosome Location	chr4:79122562-79122563
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10013723	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10030855	0.82[AFR][1000 genomes]
rs13101708	0.84[YRI][hapmap];0.84[AFR][1000 genomes]
rs1878440	0.88[AFR][1000 genomes]
rs2866992	0.89[AFR][1000 genomes]
rs2866997	0.85[AFR][1000 genomes]
rs2867002	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2903451	0.92[AFR][1000 genomes]
rs4382062	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4510481	0.89[AFR][1000 genomes]
rs6815325	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7678978	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7683203	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7689878	0.88[YRI][hapmap];0.84[AFR][1000 genomes]
rs7695154	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7698861	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9991361	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9993374	0.99[AFR][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	nsv534024	chr4:78785189-79437403	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv525530	chr4:79024524-79266563	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv879502	chr4:79052851-79144309	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1010782	chr4:79057839-79387207	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv999844	chr4:79092549-79165869	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv879503	chr4:79108589-79163162	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79117000-79126000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:79117000-79129000	Weak transcription	Pancreas	Pancrea
3	chr4:79117600-79123600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr4:79118000-79123600	Enhancers	HepG2	liver
5	chr4:79120800-79122800	Enhancers	Fetal Intestine Large	intestine
6	chr4:79121400-79122800	Enhancers	Fetal Intestine Small	intestine
7	chr4:79121600-79123400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:79121600-79123800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:79121600-79139400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr4:79121800-79125600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr4:79121800-79126200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:79121800-79131800	Weak transcription	Fetal Heart	heart
13	chr4:79122000-79122800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr4:79122200-79123000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr4:79122400-79123000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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