Variant report

Variant	rs7670395
Chromosome Location	chr4:119317964-119317965
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11934393	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11943668	1.00[AMR][1000 genomes]
rs56851825	1.00[AMR][1000 genomes]
rs57490430	1.00[AMR][1000 genomes]
rs59663740	1.00[AMR][1000 genomes]
rs60541606	1.00[AMR][1000 genomes]
rs6835907	1.00[AMR][1000 genomes]
rs72903205	1.00[AMR][1000 genomes]
rs72903220	1.00[AMR][1000 genomes]
rs72903270	0.97[AFR][1000 genomes]
rs72903293	1.00[AMR][1000 genomes]
rs72905407	1.00[AMR][1000 genomes]
rs7672292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7672715	1.00[AFR][1000 genomes];1.00[AMR][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	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS 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	39 gene(s)	inside rSNPs	diseases
2	esv34038	chr4:119035124-119455391	Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1001138	chr4:119095147-119461837	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv537230	chr4:119095147-119461837	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1002771	chr4:119125361-119571237	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv1003731	chr4:119138262-119506032	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv482277	chr4:119261543-119408886	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv1793390	chr4:119294686-119390371	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv3355840	chr4:119296640-119774737	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
10	esv1826457	chr4:119315822-119387097	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119311200-119318200	Weak transcription	NHDF-Ad	bronchial
2	chr4:119316000-119318000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:119316200-119320000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr4:119316200-119320800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr4:119316800-119318000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr4:119316800-119318000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr4:119316800-119321600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:119317000-119318200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
9	chr4:119317000-119318600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr4:119317000-119319600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
11	chr4:119317600-119318400	Enhancers	H1 Cell Line	embryonic stem cell
12	chr4:119317600-119318400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr4:119317600-119319200	Enhancers	H9 Cell Line	embryonic stem cell
14	chr4:119317600-119319600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:119317600-119319800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr4:119317800-119318400	Enhancers	Placenta	Placenta
17	chr4:119317800-119318600	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr4:119317800-119320000	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr4:119317800-119320200	Enhancers	HMEC	breast

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dbSNP/dbVar ID: rs12345 /nsv7879
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