Variant report

Variant	rs73419545
Chromosome Location	chr18:13123318-13123319
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:13122649..13124818-chr18:13125733..13129086,3	K562	blood:
2	chr18:13099273..13102130-chr18:13123064..13124628,2	MCF-7	breast:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10164063	1.00[EUR][1000 genomes]
rs11080631	1.00[EUR][1000 genomes]
rs1613375	1.00[EUR][1000 genomes]
rs1628961	1.00[EUR][1000 genomes]
rs1786993	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1893324	1.00[EUR][1000 genomes]
rs1893325	1.00[EUR][1000 genomes]
rs1945136	1.00[EUR][1000 genomes]
rs2027693	1.00[EUR][1000 genomes]
rs2027694	1.00[EUR][1000 genomes]
rs2155864	1.00[EUR][1000 genomes]
rs28579212	1.00[EUR][1000 genomes]
rs4239310	1.00[EUR][1000 genomes]
rs478502	1.00[EUR][1000 genomes]
rs4796970	1.00[EUR][1000 genomes]
rs482642	1.00[EUR][1000 genomes]
rs483647	1.00[EUR][1000 genomes]
rs486976	1.00[EUR][1000 genomes]
rs506877	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs533010	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs543201	1.00[EUR][1000 genomes]
rs547479	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs569831	1.00[EUR][1000 genomes]
rs575250	1.00[EUR][1000 genomes]
rs57580816	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58839955	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7229440	1.00[EUR][1000 genomes]
rs7238800	1.00[EUR][1000 genomes]
rs73407719	1.00[EUR][1000 genomes]
rs73407722	1.00[EUR][1000 genomes]
rs73407750	1.00[EUR][1000 genomes]
rs73407763	1.00[EUR][1000 genomes]
rs73407884	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73419110	1.00[EUR][1000 genomes]
rs8083404	1.00[EUR][1000 genomes]
rs9945456	1.00[EUR][1000 genomes]
rs9946422	1.00[EUR][1000 genomes]
rs9953795	1.00[EUR][1000 genomes]
rs9958518	1.00[EUR][1000 genomes]
rs9964950	1.00[EUR][1000 genomes]
rs9965936	1.00[EUR][1000 genomes]
rs9966740	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv1057083	chr18:12916779-13207538	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats 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	46 gene(s)	inside rSNPs	diseases
4	nsv576524	chr18:12918318-13183609	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv1056593	chr18:12926314-13183383	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv1064364	chr18:12926314-13207686	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	nsv833591	chr18:13093777-13253748	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv515878	chr18:13122618-13142415	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv909408	chr18:13122618-13308950	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr18:13086400-13128000	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr18:13099200-13124800	Strong transcription	Fetal Thymus	thymus
3	chr18:13099200-13127800	Strong transcription	Dnd41	blood
4	chr18:13099200-13128200	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr18:13099400-13129400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr18:13106200-13130000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr18:13106800-13135400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr18:13107000-13130400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr18:13109600-13126600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr18:13112200-13125600	Weak transcription	Fetal Brain Female	brain
11	chr18:13115600-13125400	Weak transcription	Colon Smooth Muscle	Colon
12	chr18:13116200-13126200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr18:13116200-13126800	Weak transcription	Esophagus	oesophagus
14	chr18:13116200-13128800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr18:13116200-13130000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr18:13118000-13126400	Weak transcription	Pancreas	Pancrea
17	chr18:13118000-13126400	Weak transcription	Right Ventricle	heart
18	chr18:13118000-13126800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr18:13118000-13126800	Weak transcription	Aorta	Aorta
20	chr18:13118000-13130000	Weak transcription	Small Intestine	intestine
21	chr18:13118200-13126800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr18:13118200-13132600	Weak transcription	HepG2	liver
23	chr18:13118400-13124400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr18:13118400-13135600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr18:13118400-13136200	Weak transcription	Psoas Muscle	Psoas
26	chr18:13118800-13126400	Weak transcription	Lung	lung
27	chr18:13118800-13130600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr18:13118800-13136800	Weak transcription	HSMMtube	muscle
29	chr18:13119000-13126400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr18:13119000-13127200	Weak transcription	Colonic Mucosa	Colon
31	chr18:13119000-13130800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr18:13119000-13133400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr18:13119000-13134200	Weak transcription	Fetal Lung	lung
34	chr18:13119000-13136400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr18:13119200-13123400	Weak transcription	Left Ventricle	heart
36	chr18:13119200-13123400	Weak transcription	HSMM	muscle
37	chr18:13119200-13124600	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr18:13119200-13124800	Weak transcription	Fetal Heart	heart
39	chr18:13119200-13126400	Weak transcription	Spleen	Spleen
40	chr18:13119200-13126800	Weak transcription	Fetal Muscle Leg	muscle
41	chr18:13119200-13135800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr18:13119200-13136400	Weak transcription	Rectal Smooth Muscle	rectum
43	chr18:13119400-13123400	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr18:13119400-13124000	Weak transcription	Duodenum Mucosa	Duodenum
45	chr18:13119400-13124200	Weak transcription	Liver	Liver
46	chr18:13119400-13124400	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr18:13119400-13126400	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr18:13119400-13126600	Weak transcription	Stomach Smooth Muscle	stomach
49	chr18:13119400-13127000	Weak transcription	NHLF	lung
50	chr18:13119400-13130000	Weak transcription	A549	lung

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