Variant report

Variant	rs9922477
Chromosome Location	chr16:48158750-48158751
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	chr16:47176430..47179232-chr16:48155249..48159394,3	K562	blood:
2	chr16:47176198..47179127-chr16:48158467..48161279,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260281	Chromatin interaction
ENSG00000171208	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs13335175	1.00[AMR][1000 genomes]
rs13336203	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13336441	1.00[AMR][1000 genomes]
rs13336832	1.00[AMR][1000 genomes]
rs28361908	1.00[AMR][1000 genomes]
rs28379458	1.00[AMR][1000 genomes]
rs28539217	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28599555	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28661941	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28848294	1.00[AMR][1000 genomes]
rs9889104	1.00[AMR][1000 genomes]
rs9926437	1.00[AMR][1000 genomes]
rs9927124	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9928527	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9929780	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9931267	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9931866	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9932677	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9934175	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9934459	1.00[AMR][1000 genomes]
rs9934918	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9936494	1.00[AMR][1000 genomes]
rs9938115	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9938350	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9938594	1.00[AMR][1000 genomes]
rs9940237	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520355	chr16:47424828-48164777	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1059259	chr16:48113396-48304404	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv542916	chr16:48113396-48304404	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr16:48146400-48160600	Weak transcription	Right Atrium	heart
2	chr16:48147600-48160600	Weak transcription	Psoas Muscle	Psoas
3	chr16:48151600-48159200	Weak transcription	Right Ventricle	heart
4	chr16:48152200-48160600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr16:48153600-48160600	Weak transcription	Pancreas	Pancrea
6	chr16:48155200-48159000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr16:48155200-48159400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr16:48155200-48159600	Enhancers	NHDF-Ad	bronchial
9	chr16:48155200-48163200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr16:48155800-48159000	Enhancers	HMEC	breast
11	chr16:48156200-48159800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr16:48156400-48163000	Enhancers	NH-A	brain
13	chr16:48156400-48163200	Enhancers	HSMM	muscle
14	chr16:48156400-48163400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr16:48156600-48158800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr16:48157200-48159000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr16:48157600-48159400	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr16:48157600-48159600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr16:48157600-48160600	Weak transcription	Hela-S3	cervix
20	chr16:48157600-48160800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr16:48157800-48160800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr16:48158000-48160400	Enhancers	A549	lung
23	chr16:48158000-48160600	Weak transcription	HUVEC	blood vessel
24	chr16:48158000-48160800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr16:48158000-48161200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr16:48158200-48159000	Enhancers	HSMMtube	muscle
27	chr16:48158200-48160600	Weak transcription	NHEK	skin
28	chr16:48158200-48160800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr16:48158200-48161800	Enhancers	Left Ventricle	heart
30	chr16:48158400-48159200	Weak transcription	Lung	lung
31	chr16:48158400-48159800	Weak transcription	Osteobl	bone
32	chr16:48158400-48160400	Weak transcription	NHLF	lung
33	chr16:48158600-48159400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr16:48158600-48159800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr16:48158600-48160200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr16:48158600-48160600	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr16:48158600-48161200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr16:48158600-48161200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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