Variant report

Variant	rs57301833
Chromosome Location	chr16:70530384-70530385
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr16:70530280-70530430	GM12875	blood:	n/a	n/a
2	CTCF	chr16:70530280-70530430	GM12864	blood:	n/a	n/a
3	CTCF	chr16:70530300-70530450	A549	lung:	n/a	n/a
4	CTCF	chr16:70530308-70530427	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr16:70530280-70530430	K562	blood:	n/a	n/a
6	CTCF	chr16:70530300-70530450	WERI-Rb-1	eye:	n/a	n/a
7	CTCF	chr16:70530260-70530410	MCF-7	breast:	n/a	n/a
8	CTCF	chr16:70530300-70530450	GM12868	blood:	n/a	n/a
9	CTCF	chr16:70530340-70530490	GM12873	blood:	n/a	n/a
10	CTCF	chr16:70530340-70530490	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr16:70530320-70530470	HEK293	kidney:	n/a	n/a
12	CTCF	chr16:70530340-70530490	GM12864	blood:	n/a	n/a
13	CTCF	chr16:70530300-70530450	GM12871	blood:	n/a	n/a
14	CTCF	chr16:70530240-70530390	MCF-7	breast:	n/a	n/a
15	POLR2A	chr16:70530262-70530413	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:70528428..70531300-chr16:70556164..70557770,2	MCF-7	breast:

Variant related genes	Relation type
COG4	TF binding region
ENSG00000189091	Chromatin interaction
ENSG00000103051	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12102388	0.87[AMR][1000 genomes]
rs12325225	1.00[AMR][1000 genomes]
rs13330945	0.87[AMR][1000 genomes]
rs13334712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13337689	0.87[AMR][1000 genomes]
rs1979594	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28613466	0.87[AMR][1000 genomes]
rs56990872	0.87[AMR][1000 genomes]
rs60575688	0.87[AMR][1000 genomes]
rs60828997	1.00[EUR][1000 genomes]
rs7193598	1.00[EUR][1000 genomes]
rs7200034	1.00[EUR][1000 genomes]
rs7200891	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7202133	0.87[AMR][1000 genomes]
rs8045340	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8057766	0.87[AMR][1000 genomes]
rs891138	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9921696	0.87[AMR][1000 genomes]
rs9924352	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9925510	0.87[AMR][1000 genomes]
rs9927480	1.00[EUR][1000 genomes]
rs9934707	1.00[EUR][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	nsv833272	chr16:70369769-70569723	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
2	esv2830027	chr16:70473934-70558039	Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70489400-70556400	Weak transcription	Stomach Mucosa	stomach
2	chr16:70501200-70535800	Strong transcription	Fetal Intestine Small	intestine
3	chr16:70501400-70535200	Strong transcription	Fetal Intestine Large	intestine
4	chr16:70501400-70536400	Strong transcription	Fetal Stomach	stomach
5	chr16:70504200-70532000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr16:70504400-70535200	Strong transcription	Liver	Liver
7	chr16:70506400-70535200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr16:70506600-70535400	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr16:70511800-70535600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr16:70512000-70535400	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr16:70512800-70533600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr16:70512800-70556400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr16:70513800-70532200	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr16:70517600-70538800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr16:70518000-70545800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr16:70519800-70532200	Strong transcription	Primary T cells from cord blood	blood
17	chr16:70519800-70533400	Strong transcription	Duodenum Mucosa	Duodenum
18	chr16:70522200-70532000	Strong transcription	Fetal Lung	lung
19	chr16:70522800-70531800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr16:70522800-70532200	Strong transcription	Stomach Smooth Muscle	stomach
21	chr16:70523200-70535200	Strong transcription	Brain Germinal Matrix	brain
22	chr16:70523200-70542400	Weak transcription	Hela-S3	cervix
23	chr16:70523400-70535200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr16:70523400-70535200	Strong transcription	Dnd41	blood
25	chr16:70524000-70532200	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr16:70524400-70542400	Weak transcription	Fetal Brain Male	brain
27	chr16:70524600-70532000	Strong transcription	Lung	lung
28	chr16:70524600-70535200	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr16:70525200-70535200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr16:70525400-70535800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr16:70525600-70532000	Strong transcription	Placenta Amnion	Placenta Amnion
32	chr16:70525600-70533400	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr16:70525600-70534000	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr16:70525600-70535400	Strong transcription	Fetal Muscle Leg	muscle
35	chr16:70525600-70535800	Strong transcription	Fetal Muscle Trunk	muscle
36	chr16:70525600-70538200	Strong transcription	Fetal Thymus	thymus
37	chr16:70525800-70533200	Strong transcription	Osteobl	bone
38	chr16:70525800-70533400	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr16:70525800-70533800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr16:70525800-70535200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr16:70525800-70535200	Strong transcription	Adipose Nuclei	Adipose
42	chr16:70525800-70535600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr16:70525800-70535600	Strong transcription	Placenta	Placenta
44	chr16:70525800-70535800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr16:70525800-70537000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr16:70526000-70539000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr16:70526600-70532000	Strong transcription	Brain Hippocampus Middle	brain
48	chr16:70526600-70532000	Strong transcription	Esophagus	oesophagus
49	chr16:70526600-70532000	Strong transcription	Spleen	Spleen
50	chr16:70526600-70533400	Strong transcription	Ovary	ovary

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