Variant report

Variant	rs41516147
Chromosome Location	chr4:102865988-102865989
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10516485	0.82[ASN][1000 genomes]
rs1352173	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1486573	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16996753	0.85[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17031698	0.82[ASN][1000 genomes]
rs17031705	0.82[ASN][1000 genomes]
rs17031709	0.89[ASN][1000 genomes]
rs17031752	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17031772	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17031808	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17031827	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17031842	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17031852	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17031854	1.00[AMR][1000 genomes]
rs17031862	1.00[AMR][1000 genomes]
rs17031870	1.00[AMR][1000 genomes]
rs17031876	1.00[AMR][1000 genomes]
rs1833499	0.93[ASN][1000 genomes]
rs2276333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2276334	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2866392	1.00[ASN][1000 genomes]
rs41347351	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4356916	0.82[ASN][1000 genomes]
rs4552465	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs55952681	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56757011	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56803425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57545925	1.00[AMR][1000 genomes]
rs58588907	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58630066	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58846155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59656969	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59859836	1.00[AMR][1000 genomes]
rs59893832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60180803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61067451	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61546925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61547168	1.00[AFR][1000 genomes]
rs72929967	1.00[AMR][1000 genomes]
rs72933903	1.00[AMR][1000 genomes]
rs73834511	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73834519	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73834525	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73834537	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73834541	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73834547	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73834549	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869164	chr4:102483189-103213842	Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv999861	chr4:102576115-102930562	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv2757945	chr4:102662699-103008940	Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2759269	chr4:102662699-103008940	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1011180	chr4:102685236-102985945	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv537202	chr4:102685236-102985945	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv2757074	chr4:102772861-102933949	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv2752360	chr4:102790822-102888822	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv1000089	chr4:102846944-102871081	Enhancers Bivalent Enhancer Weak transcription Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv879682	chr4:102859835-103088491	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:102836000-102868400	Strong transcription	Primary B cells from peripheral blood	blood
2	chr4:102859600-102872000	Strong transcription	Primary B cells from cord blood	blood
3	chr4:102860800-102873600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:102864400-102867000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:102865200-102866800	Enhancers	H1 Cell Line	embryonic stem cell
6	chr4:102865400-102866200	Enhancers	H9 Cell Line	embryonic stem cell
7	chr4:102865400-102867000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr4:102865400-102867200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr4:102865400-102867600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr4:102865600-102866000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr4:102865600-102866400	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr4:102865600-102866600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:102865600-102867000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr4:102865800-102866000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:102865800-102866200	Enhancers	NH-A	brain
16	chr4:102865800-102866400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr4:102865800-102871000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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