Variant report

Variant	rs60747434
Chromosome Location	chr16:48392551-48392552
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:48392029..48394915-chr16:48416777..48418892,2	MCF-7	breast:
2	chr16:48387428..48394420-chr16:48394893..48400608,15	K562	blood:
3	chr16:48388703..48393705-chr16:48416034..48420195,6	K562	blood:
4	chr16:48390430..48396082-chr16:48398412..48402671,6	MCF-7	breast:
5	chr16:48388635..48393801-chr16:48416034..48420195,7	K562	blood:
6	chr16:48387681..48390464-chr16:48390829..48394141,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PHKB-5	chr16:48392349-48392738	ENSG00000248379

No data

Variant related genes	Relation type
ENSG00000196470	Chromatin interaction
ENSG00000102910	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs35374298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57503116	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57833761	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57937994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60654623	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60778835	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7192772	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73550078	1.00[AMR][1000 genomes]
rs73550084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73550090	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73550093	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73550096	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73550097	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73550099	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551446	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551462	1.00[AMR][1000 genomes]
rs73551474	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551482	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73552007	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73555664	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73562026	1.00[AMR][1000 genomes]
rs73562044	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73562047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73562067	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73562076	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8048632	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8053521	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8056369	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8056984	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv833219	chr16:48290595-48459301	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1061708	chr16:48304343-48482594	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv542917	chr16:48304343-48482594	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	esv2758424	chr16:48329437-48479754	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	esv2758645	chr16:48329437-48479754	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS 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	32 gene(s)	inside rSNPs	diseases
8	esv1837150	chr16:48375777-48470715	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48352200-48395400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:48370000-48398600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr16:48370400-48395000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr16:48370400-48399200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr16:48370600-48399200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr16:48370800-48395400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr16:48371000-48398200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr16:48371200-48395400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr16:48381200-48392800	Strong transcription	Dnd41	blood
10	chr16:48381400-48396400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr16:48381800-48393800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr16:48382800-48396800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr16:48383200-48399400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr16:48384000-48395000	Weak transcription	Fetal Brain Male	brain
15	chr16:48384000-48398800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr16:48385000-48395800	Weak transcription	Colonic Mucosa	Colon
17	chr16:48385200-48395800	Weak transcription	Aorta	Aorta
18	chr16:48385400-48399400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr16:48385600-48398800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr16:48385600-48399400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr16:48386200-48395600	Weak transcription	Fetal Kidney	kidney
22	chr16:48386800-48395200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr16:48386800-48395400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr16:48386800-48395400	Weak transcription	Brain Substantia Nigra	brain
25	chr16:48386800-48395400	Weak transcription	Colon Smooth Muscle	Colon
26	chr16:48386800-48395600	Weak transcription	Spleen	Spleen
27	chr16:48386800-48398400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr16:48386800-48398400	Weak transcription	Small Intestine	intestine
29	chr16:48386800-48399000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr16:48386800-48399200	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr16:48387000-48395200	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr16:48387000-48395400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr16:48387000-48395400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr16:48387000-48395400	Weak transcription	Brain Angular Gyrus	brain
35	chr16:48387000-48395400	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr16:48387000-48395600	Weak transcription	Esophagus	oesophagus
37	chr16:48387000-48395600	Weak transcription	Gastric	stomach
38	chr16:48387200-48395400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr16:48387200-48395400	Weak transcription	Pancreas	Pancrea
40	chr16:48387200-48398400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr16:48387400-48395400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr16:48387400-48395600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr16:48387400-48399000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr16:48387600-48395800	Weak transcription	Right Ventricle	heart
45	chr16:48387800-48395000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr16:48387800-48395400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr16:48387800-48397200	Weak transcription	Stomach Mucosa	stomach
48	chr16:48387800-48398400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr16:48387800-48399400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr16:48388000-48395400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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