Variant report

Variant	rs3125434
Chromosome Location	chr13:96493319-96493320
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	chr13:96488916..96491538-chr13:96492775..96495359,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2389568	0.80[AFR][1000 genomes]
rs3099361	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7982873	0.80[AFR][1000 genomes]
rs9525075	0.80[AFR][1000 genomes]
rs9525076	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:33 , 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	chr13:96486400-96502400	Weak transcription	Osteobl	bone
16	chr13:96486400-96502600	Weak transcription	Hela-S3	cervix
17	chr13:96486400-96502600	Weak transcription	NHLF	lung
18	chr13:96486400-96503000	Weak transcription	NHDF-Ad	bronchial
19	chr13:96486600-96502200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr13:96486600-96502200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr13:96486600-96502400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr13:96486600-96502400	Weak transcription	HMEC	breast
23	chr13:96486600-96502600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr13:96486600-96502600	Weak transcription	NH-A	brain
25	chr13:96486800-96493400	Weak transcription	HSMM	muscle
26	chr13:96487000-96510000	Weak transcription	HUVEC	blood vessel
27	chr13:96490400-96502200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr13:96491000-96502200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr13:96491600-96500200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr13:96492200-96500000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr13:96492400-96493600	Weak transcription	Fetal Muscle Leg	muscle
32	chr13:96492800-96493600	Weak transcription	Pancreas	Pancrea
33	chr13:96492800-96493800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell

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