Variant report

Variant	rs9995088
Chromosome Location	chr4:127637014-127637015
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:127619348..127621154-chr4:127636708..127638290,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10019530	1.00[AMR][1000 genomes]
rs10027511	0.90[AMR][1000 genomes]
rs10033505	1.00[AMR][1000 genomes]
rs11935158	1.00[AMR][1000 genomes]
rs11940338	0.81[AMR][1000 genomes]
rs11944598	1.00[AMR][1000 genomes]
rs17011310	0.89[AMR][1000 genomes]
rs1808036	0.90[AMR][1000 genomes]
rs1808037	1.00[AMR][1000 genomes]
rs28410886	0.89[AMR][1000 genomes]
rs28415381	0.90[AMR][1000 genomes]
rs28648703	1.00[EUR][1000 genomes]
rs28707018	1.00[AMR][1000 genomes]
rs28775994	1.00[AMR][1000 genomes]
rs28783114	0.90[AMR][1000 genomes]
rs28863549	0.90[AMR][1000 genomes]
rs4623016	1.00[AMR][1000 genomes]
rs55890724	1.00[AMR][1000 genomes]
rs6849105	1.00[AMR][1000 genomes]
rs6851103	1.00[AMR][1000 genomes]
rs73846055	1.00[AMR][1000 genomes]
rs73846058	0.81[AMR][1000 genomes]
rs73846060	1.00[AMR][1000 genomes]
rs9999892	1.00[AMR][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	nsv1012833	chr4:127468474-127760933	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv537242	chr4:127468474-127760933	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv524850	chr4:127470903-127768849	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1013854	chr4:127508969-127663216	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1009499	chr4:127532856-127659010	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv537243	chr4:127532856-127659010	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1007477	chr4:127561735-127726291	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv537244	chr4:127561735-127726291	Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv2752024	chr4:127584697-127671942	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv595386	chr4:127597069-127668828	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv1028609	chr4:127597319-127664629	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:127632400-127637600	Weak transcription	K562	blood
2	chr4:127635200-127637800	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr4:127635400-127637200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr4:127636000-127637400	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr4:127636000-127637400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr4:127636000-127638200	Weak transcription	Fetal Lung	lung
7	chr4:127636200-127637200	Enhancers	H1 Cell Line	embryonic stem cell
8	chr4:127636200-127637200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr4:127636400-127637200	Enhancers	H9 Cell Line	embryonic stem cell
10	chr4:127636600-127637200	Enhancers	HUES64 Cell Line	embryonic stem cell

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