Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:39659021..39661410-chr14:39671300..39673162,2	K562	blood:
2	chr14:39659557..39662468-chr14:39664703..39667964,3	K562	blood:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs17108984	1.00[AMR][1000 genomes]
rs58306156	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58506434	1.00[AMR][1000 genomes]
rs59045671	1.00[AMR][1000 genomes]
rs59143464	1.00[AMR][1000 genomes]
rs6571902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6571903	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7146968	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7150534	1.00[AMR][1000 genomes]
rs7154840	1.00[AMR][1000 genomes]
rs7158581	1.00[AFR][1000 genomes]
rs7158832	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs73291602	1.00[AMR][1000 genomes]
rs73293324	1.00[AMR][1000 genomes]
rs8006043	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8010195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8010944	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8011297	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8013863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8014741	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs8018947	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1246	chr14:39656597-39701520	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1053133	chr14:39657535-39770729	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39651000-39661600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr14:39651000-39662000	Weak transcription	Pancreas	Pancrea
3	chr14:39653000-39662000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr14:39653200-39661600	Weak transcription	Right Ventricle	heart
5	chr14:39653400-39662000	Weak transcription	NHDF-Ad	bronchial
6	chr14:39654400-39661600	Weak transcription	Left Ventricle	heart
7	chr14:39654400-39661800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr14:39654400-39661800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr14:39654400-39672000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr14:39654600-39661600	Weak transcription	Psoas Muscle	Psoas
11	chr14:39654800-39662000	Weak transcription	Liver	Liver
12	chr14:39655200-39661600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr14:39655400-39661600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr14:39655400-39662800	Weak transcription	Fetal Intestine Small	intestine
15	chr14:39657200-39662600	Weak transcription	HSMM	muscle
16	chr14:39657400-39661000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr14:39658000-39672400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr14:39658200-39663000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

Quick Search: