Variant report

Variant	rs28748040
Chromosome Location	chr14:104931365-104931366
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10148063	1.00[ASN][1000 genomes]
rs11626239	1.00[ASN][1000 genomes]
rs11845148	1.00[ASN][1000 genomes]
rs11845243	1.00[ASN][1000 genomes]
rs11845317	1.00[ASN][1000 genomes]
rs11846270	1.00[EUR][1000 genomes]
rs11846309	1.00[ASN][1000 genomes]
rs11851226	1.00[ASN][1000 genomes]
rs11852071	1.00[ASN][1000 genomes]
rs11852074	1.00[ASN][1000 genomes]
rs11852076	1.00[ASN][1000 genomes]
rs11852158	1.00[ASN][1000 genomes]
rs13379401	1.00[ASN][1000 genomes]
rs28441667	1.00[ASN][1000 genomes]
rs28459552	1.00[ASN][1000 genomes]
rs28469711	1.00[ASN][1000 genomes]
rs28473303	1.00[ASN][1000 genomes]
rs28477721	1.00[EUR][1000 genomes]
rs28478298	1.00[ASN][1000 genomes]
rs28532159	1.00[ASN][1000 genomes]
rs28725211	1.00[ASN][1000 genomes]
rs28751128	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28788286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28808943	0.92[AFR][1000 genomes]
rs28840767	1.00[EUR][1000 genomes]
rs28844696	1.00[EUR][1000 genomes]
rs28852493	1.00[EUR][1000 genomes]
rs55793068	1.00[EUR][1000 genomes]
rs56151500	1.00[EUR][1000 genomes]
rs56767542	1.00[EUR][1000 genomes]
rs57000678	1.00[EUR][1000 genomes]
rs57143933	1.00[EUR][1000 genomes]
rs57308606	1.00[EUR][1000 genomes]
rs57452469	1.00[EUR][1000 genomes]
rs57813868	1.00[EUR][1000 genomes]
rs57908295	1.00[EUR][1000 genomes]
rs59334160	1.00[EUR][1000 genomes]
rs60117736	1.00[EUR][1000 genomes]
rs60455160	1.00[EUR][1000 genomes]
rs60842859	1.00[EUR][1000 genomes]
rs60852815	1.00[EUR][1000 genomes]
rs60899917	1.00[EUR][1000 genomes]
rs60987457	1.00[EUR][1000 genomes]
rs61210736	1.00[EUR][1000 genomes]
rs61251844	1.00[EUR][1000 genomes]
rs61495275	1.00[EUR][1000 genomes]
rs61603240	1.00[EUR][1000 genomes]
rs61997128	1.00[ASN][1000 genomes]
rs61997129	1.00[ASN][1000 genomes]
rs61997130	1.00[ASN][1000 genomes]
rs61997131	1.00[ASN][1000 genomes]
rs7140799	1.00[ASN][1000 genomes]
rs7152846	1.00[EUR][1000 genomes]
rs7153637	1.00[EUR][1000 genomes]
rs73352147	1.00[EUR][1000 genomes]
rs73352150	1.00[EUR][1000 genomes]
rs74088139	1.00[EUR][1000 genomes]
rs74088175	1.00[EUR][1000 genomes]
rs74088176	1.00[EUR][1000 genomes]
rs74088188	1.00[EUR][1000 genomes]
rs74088506	1.00[EUR][1000 genomes]
rs74088520	1.00[EUR][1000 genomes]
rs74088523	1.00[EUR][1000 genomes]
rs74088524	1.00[EUR][1000 genomes]
rs74088525	1.00[EUR][1000 genomes]
rs74088527	1.00[EUR][1000 genomes]
rs74088549	1.00[EUR][1000 genomes]
rs74088553	1.00[EUR][1000 genomes]
rs74088554	1.00[EUR][1000 genomes]
rs74088570	1.00[EUR][1000 genomes]
rs74088573	1.00[EUR][1000 genomes]
rs74088574	1.00[EUR][1000 genomes]
rs74088580	1.00[EUR][1000 genomes]
rs74088592	1.00[EUR][1000 genomes]
rs8013111	1.00[EUR][1000 genomes]
rs8014971	1.00[ASN][1000 genomes]
rs8015125	1.00[ASN][1000 genomes]
rs8015936	1.00[ASN][1000 genomes]
rs8017145	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1826669	chr14:104554461-105065941	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1049810	chr14:104577600-105060539	Bivalent Enhancer Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv530812	chr14:104775571-105364883	Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	esv2751159	chr14:104778024-104986402	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1044069	chr14:104789101-104938308	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv2761599	chr14:104789113-105067734	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv566042	chr14:104792254-104937554	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv456444	chr14:104792254-104952144	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv566043	chr14:104792254-104952144	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	esv2751161	chr14:104807712-104962955	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	esv2830001	chr14:104839816-104937554	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv902368	chr14:104839816-104947517	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv519840	chr14:104884605-104961635	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv902369	chr14:104896538-104983655	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv902370	chr14:104907273-104967252	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104930000-104938600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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