Variant report

Variant	rs28720158
Chromosome Location	chr4:100127595-100127596
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:10)

rs_ID	r²[population]
rs28364291	1.00[AMR][1000 genomes]
rs28364300	1.00[AMR][1000 genomes]
rs28364318	1.00[AMR][1000 genomes]
rs28364337	1.00[AMR][1000 genomes]
rs28720136	1.00[AMR][1000 genomes]
rs28720153	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28913918	1.00[AMR][1000 genomes]
rs28914776	1.00[AMR][1000 genomes]
rs28914777	1.00[AMR][1000 genomes]
rs6835295	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009017	chr4:99669441-100406394	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv1002927	chr4:99952472-100148690	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv879656	chr4:99976646-100533722	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1002574	chr4:100023999-100133693	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv3355763	chr4:100070566-100376814	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv879657	chr4:100082154-100139366	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1014237	chr4:100102701-100365700	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1010988	chr4:100105463-100444445	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv1000659	chr4:100117276-100444445	Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv999549	chr4:100121609-100351749	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv879658	chr4:100123776-100131163	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA	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	chr4:100108400-100141600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:100115200-100129800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr4:100120600-100127600	Enhancers	Fetal Intestine Small	intestine
4	chr4:100123000-100127600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:100123800-100128200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr4:100124600-100128600	Weak transcription	Fetal Muscle Leg	muscle
7	chr4:100125600-100127600	Enhancers	NHDF-Ad	bronchial
8	chr4:100125800-100127600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr4:100125800-100127600	Enhancers	Fetal Intestine Large	intestine
10	chr4:100126000-100130200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr4:100126200-100127600	Enhancers	Duodenum Mucosa	Duodenum
12	chr4:100126200-100127600	Flanking Active TSS	Fetal Lung	lung
13	chr4:100126600-100128600	Enhancers	Liver	Liver
14	chr4:100126800-100127600	Genic enhancers	HepG2	liver
15	chr4:100126800-100128000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr4:100126800-100128400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr4:100126800-100128600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr4:100127000-100128200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr4:100127000-100128200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr4:100127000-100128200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr4:100127000-100129600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:100127000-100129800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr4:100127000-100129800	Weak transcription	Aorta	Aorta
24	chr4:100127000-100129800	Weak transcription	NHLF	lung
25	chr4:100127000-100130600	Weak transcription	HSMMtube	muscle
26	chr4:100127000-100131000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr4:100127000-100131200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr4:100127000-100139000	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr4:100127000-100139400	Weak transcription	Ovary	ovary
30	chr4:100127000-100140200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr4:100127000-100142600	Weak transcription	Small Intestine	intestine
32	chr4:100127200-100128800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr4:100127400-100129200	Weak transcription	Fetal Kidney	kidney
34	chr4:100127400-100131000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr4:100127400-100139000	Weak transcription	Rectal Mucosa Donor 31	rectum

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