Variant report

Variant	rs11984721
Chromosome Location	chr8:130723282-130723283
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:130710996..130713027-chr8:130721393..130723665,2	K562	blood:
2	chr8:130707905..130710506-chr8:130721790..130724532,3	K562	blood:
3	chr8:130700888..130706431-chr8:130718980..130724092,7	K562	blood:
4	chr8:130717459..130720769-chr8:130721541..130726036,4	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10094846	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4130414	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56672921	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs57161806	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7014958	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7017564	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73406807	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7815332	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7821538	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7831774	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7835795	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7836015	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7836171	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][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	nsv8387	chr8:130711059-130756654	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr8:130719200-130723400	Enhancers	HMEC	breast
2	chr8:130719200-130723600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr8:130719200-130723800	Flanking Active TSS	A549	lung
4	chr8:130719600-130723400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:130719800-130723600	Enhancers	NHDF-Ad	bronchial
6	chr8:130719800-130725600	Enhancers	K562	blood
7	chr8:130720000-130723400	Enhancers	Fetal Intestine Large	intestine
8	chr8:130720000-130723400	Enhancers	HSMM	muscle
9	chr8:130720200-130723800	Enhancers	Placenta Amnion	Placenta Amnion
10	chr8:130720400-130723600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:130720600-130723600	Enhancers	NHEK	skin
12	chr8:130720600-130724800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr8:130720800-130723400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:130720800-130723600	Enhancers	Osteobl	bone
15	chr8:130720800-130725600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:130721000-130723600	Enhancers	Hela-S3	cervix
17	chr8:130721000-130723600	Enhancers	HUVEC	blood vessel
18	chr8:130721000-130724600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr8:130721400-130723600	Enhancers	Muscle Satellite Cultured Cells	--
20	chr8:130721600-130725400	Weak transcription	HSMMtube	muscle
21	chr8:130721600-130725600	Weak transcription	Fetal Stomach	stomach
22	chr8:130721800-130723400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr8:130721800-130723400	Enhancers	Placenta	Placenta
24	chr8:130722000-130724000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:130722200-130723400	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr8:130722200-130724600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr8:130722400-130723600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr8:130722400-130725000	Weak transcription	Fetal Lung	lung
29	chr8:130722600-130723400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr8:130722600-130723400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:130722600-130723400	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr8:130722600-130723400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr8:130722600-130723400	Enhancers	Fetal Intestine Small	intestine
34	chr8:130722600-130723400	Enhancers	Pancreas	Pancrea
35	chr8:130722600-130724000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr8:130722800-130724000	Enhancers	NH-A	brain
37	chr8:130723000-130724000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr8:130723200-130734600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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