Variant report

Variant	rs72730780
Chromosome Location	chr15:78155155-78155156
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10152449	0.80[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs10152492	0.80[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10468064	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28405381	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28485423	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28494785	0.80[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28679863	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28708510	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28715078	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35596151	1.00[ASN][1000 genomes]
rs3901402	0.80[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56009211	1.00[ASN][1000 genomes]
rs56155915	1.00[ASN][1000 genomes]
rs58596982	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59237872	1.00[ASN][1000 genomes]
rs59860550	1.00[ASN][1000 genomes]
rs61246633	1.00[ASN][1000 genomes]
rs72730742	1.00[ASN][1000 genomes]
rs72730745	1.00[ASN][1000 genomes]
rs72730747	1.00[ASN][1000 genomes]
rs72730748	1.00[ASN][1000 genomes]
rs72730751	1.00[ASN][1000 genomes]
rs72730781	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74026892	1.00[ASN][1000 genomes]
rs74026898	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74026900	0.80[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74026901	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8025472	0.80[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8025929	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8026137	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8026883	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8032467	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8034948	1.00[ASN][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	esv1806097	chr15:77817889-78301377	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv529491	chr15:77932659-78751516	Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	nsv833062	chr15:78035206-78220358	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv904424	chr15:78059488-78158893	Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv1833316	chr15:78081307-78328108	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv904426	chr15:78090630-78264164	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv904427	chr15:78129964-78251431	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv976954	chr15:78153346-78255825	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	esv11991	chr15:78153466-78161374	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv1046383	chr15:78153850-78229596	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv570198	chr15:78154478-78156753	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78152200-78155600	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr15:78152400-78161400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr15:78152800-78155400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr15:78153400-78155400	Weak transcription	Fetal Intestine Large	intestine
5	chr15:78153400-78156200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr15:78154400-78155800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr15:78154800-78155400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr15:78154800-78155400	Enhancers	HSMMtube	muscle
9	chr15:78154800-78156800	Enhancers	Fetal Heart	heart
10	chr15:78154800-78157200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr15:78155000-78155200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr15:78155000-78155200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
13	chr15:78155000-78155200	Bivalent Enhancer	Placenta	Placenta
14	chr15:78155000-78155600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr15:78155000-78155600	Enhancers	Fetal Muscle Leg	muscle
16	chr15:78155000-78155600	Bivalent Enhancer	Fetal Stomach	stomach
17	chr15:78155000-78155800	Enhancers	Fetal Intestine Small	intestine
18	chr15:78155000-78156800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr15:78155000-78158000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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