Variant report

Variant	rs13135683
Chromosome Location	chr4:55434373-55434374
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	chr4:55429704..55431714-chr4:55433610..55435874,3	K562	blood:
2	chr4:55432509..55435392-chr4:55437347..55440504,3	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs13101303	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1848345	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2537873	0.81[ASN][1000 genomes]
rs2703469	0.81[ASN][1000 genomes]
rs2703481	0.81[ASN][1000 genomes]
rs28708475	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34106577	0.81[ASN][1000 genomes]
rs35743047	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35843662	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35927253	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71599644	0.81[ASN][1000 genomes]
rs7695210	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008793	chr4:55060925-55535807	Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv537098	chr4:55060925-55535807	Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv999400	chr4:55143598-55776995	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv997430	chr4:55253397-55529288	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55431200-55434600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr4:55432400-55434400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:55432600-55435600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:55433200-55434400	Weak transcription	Esophagus	oesophagus
5	chr4:55433400-55435600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:55433400-55435600	Enhancers	K562	blood
7	chr4:55433800-55434400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:55433800-55434800	Enhancers	Pancreas	Pancrea
9	chr4:55433800-55434800	Enhancers	Psoas Muscle	Psoas
10	chr4:55433800-55434800	Enhancers	NH-A	brain
11	chr4:55433800-55435000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr4:55433800-55435000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:55433800-55435000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:55433800-55435000	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr4:55433800-55435600	Enhancers	NHDF-Ad	bronchial
16	chr4:55434000-55434400	Enhancers	Hela-S3	cervix
17	chr4:55434000-55434600	Enhancers	Duodenum Mucosa	Duodenum
18	chr4:55434000-55434600	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr4:55434000-55434800	Enhancers	Muscle Satellite Cultured Cells	--
20	chr4:55434000-55434800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:55434000-55434800	Enhancers	Left Ventricle	heart
22	chr4:55434000-55434800	Enhancers	NHLF	lung
23	chr4:55434000-55435000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:55434000-55435400	Enhancers	Osteobl	bone
25	chr4:55434200-55434400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr4:55434200-55434400	Enhancers	Stomach Mucosa	stomach
27	chr4:55434200-55434600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr4:55434200-55434600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr4:55434200-55434600	Enhancers	Right Atrium	heart
30	chr4:55434200-55434800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr4:55434200-55434800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr4:55434200-55434800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr4:55434200-55434800	Enhancers	Aorta	Aorta
34	chr4:55434200-55434800	Enhancers	Right Ventricle	heart
35	chr4:55434200-55434800	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr4:55434200-55434800	Enhancers	NHEK	skin
37	chr4:55434200-55435000	Enhancers	Lung	lung
38	chr4:55434200-55435000	Enhancers	HMEC	breast

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