Variant report

Variant	rs13250057
Chromosome Location	chr8:130691533-130691534
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:128746982..128749099-chr8:130690329..130692917,2	K562	blood:
2	chr8:130690016..130691591-chr8:130697534..130699622,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GSDMC-1	chr8:130691381-130691566	ENSG00000254223

Variant related genes	Relation type
ENSG00000136997	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12707937	1.00[AFR][1000 genomes]
rs13250001	1.00[AFR][1000 genomes]
rs13256760	1.00[AFR][1000 genomes]
rs13263733	1.00[AFR][1000 genomes]
rs13264700	1.00[AFR][1000 genomes]
rs13265576	1.00[AFR][1000 genomes]
rs13267746	1.00[AFR][1000 genomes]
rs34092021	1.00[AFR][1000 genomes]
rs34390591	0.83[AFR][1000 genomes]
rs34716000	1.00[AFR][1000 genomes]
rs34728826	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34865413	1.00[AFR][1000 genomes]
rs35125576	0.83[AFR][1000 genomes]
rs35509786	1.00[AFR][1000 genomes]
rs35778967	1.00[AFR][1000 genomes]
rs56049814	1.00[AFR][1000 genomes]
rs59225459	1.00[AFR][1000 genomes]
rs60812642	0.83[AFR][1000 genomes]
rs66910128	1.00[AFR][1000 genomes]
rs7004790	1.00[AFR][1000 genomes]
rs9918807	1.00[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891446	chr8:130656205-130710638	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130682600-130694000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:130688200-130693800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr8:130689200-130694000	Weak transcription	Osteobl	bone
4	chr8:130689400-130697400	Weak transcription	HMEC	breast
5	chr8:130689600-130694200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:130689800-130692600	Enhancers	Primary hematopoietic stem cells	blood
7	chr8:130689800-130694000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr8:130689800-130694000	Enhancers	Dnd41	blood
9	chr8:130690000-130691600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr8:130690000-130694000	Weak transcription	Colon Smooth Muscle	Colon
11	chr8:130690200-130691800	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr8:130690200-130692000	Enhancers	Placenta	Placenta
13	chr8:130690400-130692600	Enhancers	Fetal Muscle Leg	muscle
14	chr8:130690800-130692000	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr8:130691000-130691600	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr8:130691000-130691800	Enhancers	Fetal Muscle Trunk	muscle
17	chr8:130691000-130692000	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr8:130691000-130692000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr8:130691000-130692400	Enhancers	Psoas Muscle	Psoas
20	chr8:130691000-130692600	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr8:130691200-130691600	Enhancers	Primary B cells from peripheral blood	blood
22	chr8:130691200-130691800	Enhancers	Left Ventricle	heart
23	chr8:130691200-130691800	Enhancers	Placenta Amnion	Placenta Amnion
24	chr8:130691200-130691800	Enhancers	Spleen	Spleen
25	chr8:130691200-130691800	Enhancers	GM12878-XiMat	blood
26	chr8:130691200-130692000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:130691200-130692400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr8:130691200-130692600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr8:130691200-130692600	Enhancers	Right Atrium	heart
30	chr8:130691200-130692600	Enhancers	Right Ventricle	heart
31	chr8:130691200-130692800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr8:130691200-130692800	Enhancers	Fetal Stomach	stomach
33	chr8:130691200-130693200	Enhancers	Fetal Lung	lung
34	chr8:130691200-130693800	Weak transcription	A549	lung
35	chr8:130691200-130694800	Enhancers	NHDF-Ad	bronchial
36	chr8:130691400-130691600	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr8:130691400-130691600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr8:130691400-130691800	Enhancers	Lung	lung
39	chr8:130691400-130692400	Enhancers	Fetal Thymus	thymus
40	chr8:130691400-130692600	Enhancers	NHLF	lung
41	chr8:130691400-130693200	Enhancers	HSMM	muscle
42	chr8:130691400-130694200	Enhancers	K562	blood

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