Variant report

Variant	rs6414967
Chromosome Location	chr5:75472916-75472917
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:75369710..75371593-chr5:75472300..75473889,2	K562	blood:

Variant related genes	Relation type
ENSG00000249777	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10038253	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10040232	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10064352	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10474464	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11742697	0.87[ASN][1000 genomes]
rs12152728	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12153073	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12522434	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13153946	0.87[ASN][1000 genomes]
rs13158110	0.87[ASN][1000 genomes]
rs13174339	0.87[ASN][1000 genomes]
rs13178459	0.87[ASN][1000 genomes]
rs1553324	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1553325	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17651115	0.87[ASN][1000 genomes]
rs34476924	1.00[ASN][1000 genomes]
rs35357454	0.81[ASN][1000 genomes]
rs4532342	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4582256	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4703696	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4703697	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4704283	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4704284	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4704285	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4704286	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58628146	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62361382	0.87[ASN][1000 genomes]
rs62363488	0.87[ASN][1000 genomes]
rs62363490	0.87[ASN][1000 genomes]
rs6414968	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6453205	0.87[ASN][1000 genomes]
rs6453206	0.87[ASN][1000 genomes]
rs6453208	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6859434	0.87[ASN][1000 genomes]
rs6866404	0.87[ASN][1000 genomes]
rs6881418	0.87[ASN][1000 genomes]
rs72771998	0.81[ASN][1000 genomes]
rs736005	0.87[ASN][1000 genomes]
rs7710307	0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7719752	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7732173	1.00[ASN][1000 genomes]
rs7732692	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7734441	0.81[ASN][1000 genomes]
rs9293675	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1033350	chr5:75367809-75538460	Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1034853	chr5:75382047-75534981	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv462212	chr5:75388834-75534570	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv598676	chr5:75388834-75534570	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv526084	chr5:75410511-75530494	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	esv2757119	chr5:75426863-75474780	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	esv2759351	chr5:75426863-75474780	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	esv34958	chr5:75429015-75474921	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 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	chr5:75470600-75476400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:75471000-75474200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr5:75471800-75477000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:75472200-75473000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr5:75472400-75477000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr5:75472600-75475800	Enhancers	GM12878-XiMat	blood
7	chr5:75472600-75476200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr5:75472600-75476800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr5:75472600-75477000	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr5:75472600-75477000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr5:75472800-75473200	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr5:75472800-75473200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr5:75472800-75473200	Weak transcription	K562	blood
14	chr5:75472800-75473200	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr5:75472800-75476400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr5:75472800-75476600	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr5:75472800-75476600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr5:75472800-75476800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr5:75472800-75477000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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