Variant report

Variant	rs12933292
Chromosome Location	chr16:69566309-69566310
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:69458458..69460462-chr16:69566272..69568616,2	MCF-7	breast:
2	chr16:69524110..69526061-chr16:69563586..69566437,2	K562	blood:
3	chr16:69561206..69567755-chr16:69595684..69602877,15	K562	blood:
4	chr16:69563843..69566440-chr16:69590440..69592219,2	K562	blood:
5	chr16:69561256..69567897-chr16:69597498..69602280,7	MCF-7	breast:
6	chr16:69564473..69570135-chr16:69596661..69601236,6	MCF-7	breast:
7	chr16:69566255..69568646-chr16:69598529..69601107,2	K562	blood:

Variant related genes	Relation type
ENSG00000223109	Chromatin interaction
ENSG00000103018	Chromatin interaction
ENSG00000102908	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11646575	0.95[AFR][1000 genomes]
rs12599391	0.89[EUR][1000 genomes]
rs12923231	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12924872	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12929503	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13330951	0.98[ASN][1000 genomes]
rs1364063	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1972659	0.90[AFR][1000 genomes]
rs2032912	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs244415	0.82[EUR][1000 genomes]
rs244418	0.86[EUR][1000 genomes]
rs244420	0.83[EUR][1000 genomes]
rs35967356	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4783721	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4783722	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56096139	0.97[ASN][1000 genomes]
rs62052815	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62052816	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs669696	0.87[EUR][1000 genomes]
rs862320	0.82[EUR][1000 genomes]
rs889398	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs889399	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][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	nsv431514	chr16:69428599-69581699	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv906821	chr16:69509506-69576894	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1852	chr16:69566121-69610962	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	17 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69563200-69566400	Enhancers	NHDF-Ad	bronchial
2	chr16:69564000-69566600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr16:69564600-69566800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr16:69564800-69566800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr16:69564800-69569200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr16:69564800-69569400	Weak transcription	Lung	lung
7	chr16:69564800-69569400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr16:69565000-69566400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr16:69565000-69566600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr16:69565000-69567000	Enhancers	NHEK	skin
11	chr16:69565000-69567200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr16:69565000-69568800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr16:69565000-69569200	Weak transcription	Esophagus	oesophagus
14	chr16:69565000-69569400	Weak transcription	Spleen	Spleen
15	chr16:69565000-69570000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr16:69565000-69570000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr16:69565000-69571200	Weak transcription	Right Atrium	heart
18	chr16:69565200-69566400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr16:69565200-69566400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr16:69565200-69566400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr16:69565200-69566400	Weak transcription	HepG2	liver
22	chr16:69565200-69566400	Weak transcription	HSMM	muscle
23	chr16:69565200-69566600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr16:69565200-69566600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr16:69565200-69566600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr16:69565200-69566600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr16:69565200-69566600	Enhancers	A549	lung
28	chr16:69565200-69566600	Enhancers	Hela-S3	cervix
29	chr16:69565200-69566600	Weak transcription	HSMMtube	muscle
30	chr16:69565200-69566600	Weak transcription	NHLF	lung
31	chr16:69565200-69566800	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr16:69565200-69566800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr16:69565200-69568800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr16:69565200-69568800	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr16:69565200-69568800	Weak transcription	NH-A	brain
36	chr16:69565200-69568800	Weak transcription	Osteobl	bone
37	chr16:69565200-69569000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr16:69565200-69570600	Weak transcription	GM12878-XiMat	blood
39	chr16:69565400-69566400	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr16:69565400-69566400	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr16:69565400-69567600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr16:69565400-69568800	Weak transcription	HUVEC	blood vessel
43	chr16:69565600-69566400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr16:69565600-69566800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr16:69565800-69566600	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr16:69565800-69566600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr16:69565800-69566800	Enhancers	K562	blood
48	chr16:69565800-69569000	Weak transcription	Placenta	Placenta
49	chr16:69566200-69566600	Weak transcription	HMEC	breast
50	chr16:69566200-69568600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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