Variant report

Variant	rs72968645
Chromosome Location	chr4:152968413-152968414
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs17028519	1.00[AMR][1000 genomes]
rs17028523	1.00[AMR][1000 genomes]
rs17028527	1.00[AMR][1000 genomes]
rs17028532	1.00[AMR][1000 genomes]
rs17028534	1.00[AMR][1000 genomes]
rs55951057	1.00[AMR][1000 genomes]
rs56308140	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56347809	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56364547	1.00[AMR][1000 genomes]
rs60062078	1.00[AMR][1000 genomes]
rs60708822	1.00[AMR][1000 genomes]
rs60726234	1.00[AMR][1000 genomes]
rs61149531	1.00[AMR][1000 genomes]
rs61374994	1.00[AMR][1000 genomes]
rs61563040	1.00[AMR][1000 genomes]
rs72968641	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72970421	1.00[AMR][1000 genomes]
rs72970453	1.00[AMR][1000 genomes]
rs72970454	1.00[AMR][1000 genomes]
rs72970456	1.00[AMR][1000 genomes]
rs72970457	1.00[AMR][1000 genomes]
rs72970464	1.00[AMR][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	nsv432644	chr4:152635395-153023402	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv880341	chr4:152861685-153110256	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv931416	chr4:152877808-153440553	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv461679	chr4:152935555-152992741	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv595734	chr4:152935555-152992741	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152966600-152969400	Enhancers	Fetal Heart	heart
2	chr4:152966600-152969800	Enhancers	HSMMtube	muscle
3	chr4:152967200-152973400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr4:152967400-152969000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:152967400-152970000	Enhancers	Fetal Thymus	thymus
6	chr4:152967600-152968600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr4:152967600-152968600	Weak transcription	Ovary	ovary
8	chr4:152967600-152968800	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr4:152967600-152969000	Enhancers	Fetal Muscle Leg	muscle
10	chr4:152967600-152972000	Weak transcription	Fetal Intestine Large	intestine
11	chr4:152967600-152973200	Weak transcription	Thymus	Thymus
12	chr4:152967600-152974600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr4:152967600-152977000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr4:152967800-152968600	Enhancers	H1 Cell Line	embryonic stem cell
15	chr4:152967800-152968600	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr4:152967800-152968800	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr4:152967800-152968800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr4:152968000-152969000	Enhancers	H9 Cell Line	embryonic stem cell
19	chr4:152968200-152968600	Enhancers	Hela-S3	cervix
20	chr4:152968200-152969000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr4:152968400-152968600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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