Variant report

Variant	rs73562044
Chromosome Location	chr16:48388947-48388948
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:48388295-48389667	GM12878	blood:	n/a	n/a
2	STAT3	chr16:48388920-48389011	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr16:48382423-48397803	K562	blood:	n/a	n/a
4	POLR2A	chr16:48388615-48389520	U87	brain:	n/a	n/a
5	POLR2A	chr16:48388942-48389006	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr16:48388882-48389603	HepG2	liver:	n/a	n/a
7	POLR2A	chr16:48388336-48390326	GM12891	blood:	n/a	n/a
8	POLR2A	chr16:48388625-48389711	HepG2	liver:	n/a	n/a
9	POLR2A	chr16:48388351-48394774	HepG2	liver:	n/a	n/a
10	POLR2A	chr16:48388818-48389224	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr16:48388362-48390235	A549	lung:	n/a	n/a
12	FOSL2	chr16:48388307-48389666	HepG2	liver:	n/a	n/a
13	POLR2A	chr16:48388346-48390395	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr16:48388918-48389403	HL-60	blood:	n/a	n/a
15	POLR2A	chr16:48388811-48389739	GM12892	blood:	n/a	n/a
16	POLR2A	chr16:48388621-48389372	U87	brain:	n/a	n/a
17	POLR2A	chr16:48388161-48389647	GM12892	blood:	n/a	n/a
18	POLR2A	chr16:48388725-48389679	GM12891	blood:	n/a	n/a
19	POLR2A	chr16:48388894-48389260	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr16:48388381-48389651	GM12891	blood:	n/a	n/a
21	POLR2A	chr16:48388814-48389152	U87	brain:	n/a	n/a
22	POLR2A	chr16:48388880-48389337	PFSK-1	brain:	n/a	n/a
23	POLR2A	chr16:48388204-48389636	GM12878	blood:	n/a	n/a
24	CTCF	chr16:48388920-48389070	HCPEpiC	choroid plexus:	n/a	n/a
25	POLR2A	chr16:48388875-48389330	GM12891	blood:	n/a	n/a
26	POLR2A	chr16:48388721-48389614	HepG2	liver:	n/a	n/a
27	POLR2A	chr16:48388492-48392547	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:48380606..48384347-chr16:48387756..48392206,4	K562	blood:
2	chr16:48387428..48394420-chr16:48394893..48400608,15	K562	blood:
3	chr16:48387740..48389456-chr16:48418204..48422150,3	MCF-7	breast:
4	chr16:48388703..48393705-chr16:48416034..48420195,6	K562	blood:
5	chr16:48388635..48393801-chr16:48416034..48420195,7	K562	blood:

No data

Variant related genes	Relation type
LONP2	TF binding region
ENSG00000102910	Chromatin interaction
ENSG00000196470	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	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57503116	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57833761	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57937994	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60654623	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60747434	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60778835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7192772	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73550078	1.00[AMR][1000 genomes]
rs73550084	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73550090	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73550093	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73550096	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73550097	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73550099	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551446	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551462	1.00[AMR][1000 genomes]
rs73551474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73552007	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73555664	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73562026	1.00[AMR][1000 genomes]
rs73562047	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73562067	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73562076	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8048632	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8053521	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8056369	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8056984	1.00[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	chr16:48365200-48392400	Strong transcription	Liver	Liver
3	chr16:48370000-48398600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr16:48370400-48389800	Weak transcription	Psoas Muscle	Psoas
5	chr16:48370400-48395000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr16:48370400-48399200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr16:48370600-48399200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr16:48370800-48395400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr16:48371000-48398200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr16:48371200-48395400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr16:48380600-48389400	Strong transcription	Fetal Stomach	stomach
12	chr16:48380800-48389200	Strong transcription	Fetal Muscle Trunk	muscle
13	chr16:48381200-48392800	Strong transcription	Dnd41	blood
14	chr16:48381400-48396400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr16:48381800-48393800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr16:48382000-48390200	Strong transcription	Fetal Intestine Large	intestine
17	chr16:48382200-48390000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr16:48382800-48396800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr16:48383200-48399400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr16:48384000-48395000	Weak transcription	Fetal Brain Male	brain
21	chr16:48384000-48398800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr16:48385000-48395800	Weak transcription	Colonic Mucosa	Colon
23	chr16:48385200-48389000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr16:48385200-48395800	Weak transcription	Aorta	Aorta
25	chr16:48385400-48399400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr16:48385600-48398800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr16:48385600-48399400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr16:48386200-48389800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr16:48386200-48395600	Weak transcription	Fetal Kidney	kidney
30	chr16:48386600-48389000	Weak transcription	Ovary	ovary
31	chr16:48386600-48390000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr16:48386600-48390200	Strong transcription	NHEK	skin
33	chr16:48386800-48389000	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr16:48386800-48391000	Weak transcription	Primary B cells from cord blood	blood
35	chr16:48386800-48395200	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr16:48386800-48395400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr16:48386800-48395400	Weak transcription	Brain Substantia Nigra	brain
38	chr16:48386800-48395400	Weak transcription	Colon Smooth Muscle	Colon
39	chr16:48386800-48395600	Weak transcription	Spleen	Spleen
40	chr16:48386800-48398400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr16:48386800-48398400	Weak transcription	Small Intestine	intestine
42	chr16:48386800-48399000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr16:48386800-48399200	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr16:48387000-48389000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr16:48387000-48389000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr16:48387000-48389000	Weak transcription	Stomach Smooth Muscle	stomach
47	chr16:48387000-48389000	Weak transcription	Thymus	Thymus
48	chr16:48387000-48389000	Weak transcription	Hela-S3	cervix
49	chr16:48387000-48389000	Weak transcription	NHDF-Ad	bronchial
50	chr16:48387000-48389000	Weak transcription	NHLF	lung

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