Variant report

Variant	rs57330554
Chromosome Location	chr16:48286457-48286458
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	chr16:48278117..48282206-chr16:48283249..48287536,6	K562	blood:

Variant related genes	Relation type
ENSG00000102910	Chromatin interaction
ENSG00000121270	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17750580	0.82[AFR][1000 genomes]
rs57154096	1.00[AMR][1000 genomes]
rs59029650	0.83[AFR][1000 genomes]
rs59953548	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61258375	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8063594	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv1061316	chr16:48264175-48594219	Weak transcription Strong transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	esv1821072	chr16:48268318-48504364	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48279000-48287000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr16:48279400-48312600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:48279600-48286600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr16:48279600-48286600	Weak transcription	Fetal Thymus	thymus
5	chr16:48279600-48287400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr16:48279600-48292200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr16:48279600-48292600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr16:48279600-48293400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr16:48279600-48293400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr16:48279600-48294200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr16:48279600-48297200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr16:48279600-48311200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr16:48279600-48320200	Weak transcription	Spleen	Spleen
14	chr16:48280000-48286600	Weak transcription	Primary B cells from cord blood	blood
15	chr16:48280000-48287400	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr16:48280000-48288000	Weak transcription	Fetal Muscle Leg	muscle
17	chr16:48280200-48288000	Weak transcription	A549	lung
18	chr16:48280400-48286800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr16:48280400-48287000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr16:48280400-48287600	Weak transcription	NH-A	brain
21	chr16:48280400-48288600	Weak transcription	Fetal Heart	heart
22	chr16:48280400-48288600	Weak transcription	Fetal Kidney	kidney
23	chr16:48280400-48288600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr16:48280400-48289000	Weak transcription	HUVEC	blood vessel
25	chr16:48280400-48292800	Weak transcription	NHDF-Ad	bronchial
26	chr16:48280400-48293400	Weak transcription	Colonic Mucosa	Colon
27	chr16:48280400-48293400	Weak transcription	Thymus	Thymus
28	chr16:48280400-48293400	Weak transcription	HSMMtube	muscle
29	chr16:48280400-48295400	Weak transcription	Brain Germinal Matrix	brain
30	chr16:48280400-48296000	Weak transcription	Fetal Brain Male	brain
31	chr16:48280400-48309400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr16:48280600-48287000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr16:48280600-48288000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr16:48280800-48286800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr16:48280800-48287000	Weak transcription	Fetal Intestine Small	intestine
36	chr16:48280800-48288600	Weak transcription	Fetal Lung	lung
37	chr16:48280800-48292200	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr16:48280800-48304000	Weak transcription	Hela-S3	cervix
39	chr16:48281200-48287600	Weak transcription	Stomach Smooth Muscle	stomach
40	chr16:48281200-48291600	Weak transcription	Fetal Brain Female	brain
41	chr16:48281400-48287000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr16:48281400-48288200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr16:48281400-48289000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr16:48281400-48313200	Weak transcription	Right Atrium	heart
45	chr16:48281600-48287000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr16:48281600-48287400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr16:48281600-48288000	Weak transcription	HSMM	muscle
48	chr16:48281600-48289000	Weak transcription	Right Ventricle	heart
49	chr16:48281600-48290600	Weak transcription	GM12878-XiMat	blood
50	chr16:48281600-48291000	Weak transcription	Ovary	ovary

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