Variant report

Variant	rs11723991
Chromosome Location	chr4:186847169-186847170
allele	A/C
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:13)

rs_ID	r²[population]
rs10023484	0.85[EUR][1000 genomes]
rs11727371	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11727879	0.94[ASN][1000 genomes]
rs11731751	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11732555	0.88[ASN][1000 genomes]
rs28709332	0.87[EUR][1000 genomes]
rs56126108	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56304218	0.82[ASN][1000 genomes]
rs56306407	0.88[ASN][1000 genomes]
rs62335059	0.82[ASN][1000 genomes]
rs62336466	0.88[ASN][1000 genomes]
rs72709756	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7672247	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028146	chr4:186503899-187338335	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1023917	chr4:186533075-186997806	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537420	chr4:186533075-186997806	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv530178	chr4:186659940-187478310	Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv1015236	chr4:186696172-187004074	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1022661	chr4:186789827-187122464	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv537422	chr4:186789827-187122464	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv1032178	chr4:186836629-186909596	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186843200-186847200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr4:186843200-186853400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr4:186843600-186847200	Weak transcription	Right Atrium	heart
4	chr4:186843600-186853400	Weak transcription	Spleen	Spleen
5	chr4:186844400-186847400	Weak transcription	Ovary	ovary
6	chr4:186846800-186847200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr4:186846800-186847600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:186847000-186847400	Enhancers	H1 Cell Line	embryonic stem cell
9	chr4:186847000-186847400	Enhancers	H9 Cell Line	embryonic stem cell
10	chr4:186847000-186847400	Active TSS	Fetal Intestine Large	intestine
11	chr4:186847000-186847400	Active TSS	Fetal Intestine Small	intestine
12	chr4:186847000-186847600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr4:186847000-186847600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr4:186847000-186847600	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr4:186847000-186847600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr4:186847000-186847600	Active TSS	Colonic Mucosa	Colon
17	chr4:186847000-186847600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr4:186847000-186847600	Enhancers	Gastric	stomach
19	chr4:186847000-186847600	Active TSS	Left Ventricle	heart
20	chr4:186847000-186847800	Active TSS	Duodenum Mucosa	Duodenum
21	chr4:186847000-186847800	Active TSS	Right Ventricle	heart
22	chr4:186847000-186848000	Active TSS	Fetal Heart	heart

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