Variant report

Variant	rs4550324
Chromosome Location	chr13:96491197-96491198
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:96488916..96491538-chr13:96492775..96495359,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10467347	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs17878797	0.84[ASN][1000 genomes]
rs17880519	0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap]
rs28503176	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28625167	0.82[AFR][1000 genomes]
rs28631067	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3125431	0.85[CHB][hapmap]
rs4406928	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58509921	0.85[ASN][1000 genomes]
rs61422359	0.89[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs61975190	0.80[ASN][1000 genomes]
rs61975193	0.84[ASN][1000 genomes]
rs6492817	0.85[CHB][hapmap]
rs7318577	1.00[ASW][hapmap];0.95[LWK][hapmap];0.95[MKK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs7318647	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7324577	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7327257	1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap]
rs7330135	0.89[AFR][1000 genomes]
rs73554913	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7988464	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7990333	0.89[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7990743	0.89[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs7993991	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7994177	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs9561965	0.85[YRI][hapmap]
rs9584318	0.84[ASN][1000 genomes]
rs9584321	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.84[ASN][1000 genomes]
rs9584326	0.86[ASW][hapmap];0.85[YRI][hapmap]
rs9584331	0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs9584332	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap]
rs9590318	0.85[CHB][hapmap]
rs9590319	0.82[ASN][1000 genomes]
rs9590320	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9590323	0.84[ASN][1000 genomes]
rs9590329	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9590331	0.85[CHB][hapmap]
rs9590335	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9590337	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9590338	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9590340	0.87[ASN][1000 genomes]
rs9590341	0.83[ASN][1000 genomes]
rs9590352	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap]
rs9590353	0.92[CHB][hapmap];0.86[JPT][hapmap]
rs9590356	0.81[LWK][hapmap]
rs9590357	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832690	chr13:96330757-96508077	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	esv3509289	chr13:96461000-96505090	ZNF genes & repeats Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv3509290	chr13:96461000-96505090	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv832691	chr13:96478098-96659823	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv527566	chr13:96485609-96497070	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:96476000-96502600	Weak transcription	Fetal Heart	heart
2	chr13:96478000-96498200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:96478000-96502600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr13:96478000-96502600	Weak transcription	Left Ventricle	heart
5	chr13:96478000-96568400	Weak transcription	Placenta	Placenta
6	chr13:96478200-96493600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr13:96478200-96495000	Weak transcription	Lung	lung
8	chr13:96478200-96502200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr13:96478200-96502600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr13:96478200-96502600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr13:96478200-96502600	Weak transcription	Aorta	Aorta
12	chr13:96478200-96502600	Weak transcription	Fetal Stomach	stomach
13	chr13:96478200-96502600	Weak transcription	Gastric	stomach
14	chr13:96478200-96502600	Weak transcription	Ovary	ovary
15	chr13:96478600-96491400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr13:96486400-96502400	Weak transcription	Osteobl	bone
17	chr13:96486400-96502600	Weak transcription	Hela-S3	cervix
18	chr13:96486400-96502600	Weak transcription	NHLF	lung
19	chr13:96486400-96503000	Weak transcription	NHDF-Ad	bronchial
20	chr13:96486600-96491400	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr13:96486600-96491800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr13:96486600-96502200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr13:96486600-96502200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr13:96486600-96502400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr13:96486600-96502400	Weak transcription	HMEC	breast
26	chr13:96486600-96502600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr13:96486600-96502600	Weak transcription	NH-A	brain
28	chr13:96486800-96493400	Weak transcription	HSMM	muscle
29	chr13:96487000-96510000	Weak transcription	HUVEC	blood vessel
30	chr13:96490400-96502200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr13:96491000-96502200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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