Variant report

Variant	rs12649618
Chromosome Location	chr4:127610601-127610602
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:127609056..127611061-chr4:127617103..127618757,2	K562	blood:
2	chr4:127605644..127607876-chr4:127610185..127613110,2	K562	blood:
3	chr4:127605123..127609029-chr4:127609783..127616585,6	K562	blood:
4	chr4:127608126..127611667-chr4:127611827..127616357,6	K562	blood:
5	chr4:127599658..127603060-chr4:127607594..127612436,4	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11098889	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11730456	0.83[ASN][1000 genomes]
rs12642270	0.84[ASN][1000 genomes]
rs12642385	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12644037	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12648195	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12651202	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13137093	0.83[ASN][1000 genomes]
rs1491136	0.83[AMR][1000 genomes]
rs1491137	0.83[AMR][1000 genomes]
rs1503620	0.83[AMR][1000 genomes]
rs17011377	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17011393	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17011398	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17011450	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17011452	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17011495	0.83[AMR][1000 genomes]
rs170197	0.88[ASN][1000 genomes]
rs2008243	0.83[AMR][1000 genomes]
rs313041	0.86[ASN][1000 genomes]
rs313043	0.83[ASN][1000 genomes]
rs313045	0.83[ASN][1000 genomes]
rs313108	0.81[ASN][1000 genomes]
rs313110	0.81[ASN][1000 genomes]
rs313111	0.81[ASN][1000 genomes]
rs313112	0.81[ASN][1000 genomes]
rs313121	0.93[ASN][1000 genomes]
rs313124	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs313129	0.88[ASN][1000 genomes]
rs4146615	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs57259679	1.00[AMR][1000 genomes]
rs57840308	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs60412879	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7660412	0.83[AMR][1000 genomes]
rs7683495	0.83[AMR][1000 genomes]
rs7697724	0.84[JPT][hapmap]

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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:127608400-127611200	Enhancers	Fetal Lung	lung
2	chr4:127608800-127612600	Strong transcription	K562	blood
3	chr4:127609400-127616200	Weak transcription	NHDF-Ad	bronchial
4	chr4:127609400-127618800	Weak transcription	NHLF	lung

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