Variant report

Variant	rs9555749
Chromosome Location	chr13:111597758-111597759
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:111596342..111598319-chr13:111607475..111610357,3	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs2001677	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2391883	0.93[CEU][hapmap]
rs4238281	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4773281	1.00[CEU][hapmap]
rs4773284	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4773285	0.95[EUR][1000 genomes]
rs7318697	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7330363	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7332577	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs7333318	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7334633	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7335159	0.95[EUR][1000 genomes]
rs7335325	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7336748	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7338011	0.83[AMR][1000 genomes]
rs7998138	1.00[CEU][hapmap]
rs9521997	0.82[AMR][1000 genomes]
rs9522001	0.94[CEU][hapmap]
rs9555744	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044340	chr13:111234073-111692994	Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	240 gene(s)	inside rSNPs	diseases
2	nsv1048700	chr13:111265350-111658617	Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	240 gene(s)	inside rSNPs	diseases
3	nsv1050379	chr13:111516429-111701302	Genic enhancers Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv541927	chr13:111516429-111701302	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv456121	chr13:111583422-111660113	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv563162	chr13:111583422-111660113	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv563163	chr13:111586298-111603888	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv563164	chr13:111595399-111625091	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv977280	chr13:111596117-111604319	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1045197	chr13:111596127-111642187	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv1048206	chr13:111596127-111651763	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv1037826	chr13:111596401-111639765	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111595800-111598600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr13:111596000-111597800	Enhancers	K562	blood
3	chr13:111596000-111598400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr13:111596000-111598400	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr13:111596200-111597800	Enhancers	Fetal Muscle Leg	muscle
6	chr13:111596600-111598000	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr13:111596600-111598800	Enhancers	Left Ventricle	heart
8	chr13:111596800-111598800	Enhancers	Stomach Mucosa	stomach
9	chr13:111596800-111598800	Enhancers	Spleen	Spleen
10	chr13:111597000-111598000	Weak transcription	Placenta	Placenta
11	chr13:111597000-111598200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr13:111597000-111598800	Enhancers	Right Ventricle	heart
13	chr13:111597000-111604200	Weak transcription	HMEC	breast
14	chr13:111597200-111597800	Enhancers	HUVEC	blood vessel
15	chr13:111597200-111598200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr13:111597200-111598800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr13:111597200-111603800	Weak transcription	GM12878-XiMat	blood
18	chr13:111597200-111606400	Weak transcription	NHLF	lung
19	chr13:111597400-111598000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr13:111597400-111598600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr13:111597600-111598200	Weak transcription	HSMMtube	muscle

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