Variant report

Variant	rs58558999
Chromosome Location	chr18:13125570-13125571
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	chr18:13124233..13126010-chr18:13129729..13132355,2	K562	blood:

Extended variants
information (count: 105 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs11080624	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11080626	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11080627	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11080628	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11659468	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11660634	0.81[AMR][1000 genomes]
rs11660908	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11661802	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11662528	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11663369	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11663399	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11663455	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11663521	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11664958	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11665378	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11665394	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12604624	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12606033	0.91[AFR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12607152	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12607203	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12607323	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12607329	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12607661	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12607682	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2282542	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3786160	0.95[ASN][1000 genomes]
rs3786162	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3786163	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3786164	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3809907	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3809908	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56913743	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57292913	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57448401	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57906042	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58158805	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58322002	0.88[ASN][1000 genomes]
rs58343237	0.88[ASN][1000 genomes]
rs58554306	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58820551	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59278606	0.88[ASN][1000 genomes]
rs59557962	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59962936	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60015020	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60281669	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60444886	0.89[ASN][1000 genomes]
rs60669993	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60685477	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60710487	0.88[ASN][1000 genomes]
rs60827697	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60945352	0.81[AMR][1000 genomes]
rs60989271	0.88[ASN][1000 genomes]
rs61364693	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62095829	0.88[ASN][1000 genomes]
rs66470739	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs66494849	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6650609	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6650616	0.91[ASN][1000 genomes]
rs6650617	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66559751	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66685204	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66688868	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66929859	0.88[ASN][1000 genomes]
rs66935882	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67084247	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67258461	0.83[ASN][1000 genomes]
rs67334724	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67357574	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67432911	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67565680	0.88[ASN][1000 genomes]
rs67675517	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67765196	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67838921	0.83[ASN][1000 genomes]
rs67863818	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67868710	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67955156	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67996007	0.85[AMR][1000 genomes]
rs68169869	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7228940	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7233578	0.88[ASN][1000 genomes]
rs7236172	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7236987	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7243276	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7243536	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7243597	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72636760	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72636761	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8084728	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8088543	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8090759	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8091992	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8092992	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8093363	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8093650	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8094351	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9952452	0.93[ASN][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:118 , 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	chr18:13099200-13127800	Strong transcription	Dnd41	blood
3	chr18:13099200-13128200	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr18:13099400-13129400	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr18:13106200-13130000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr18:13106800-13135400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr18:13107000-13130400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr18:13109600-13126600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr18:13112200-13125600	Weak transcription	Fetal Brain Female	brain
10	chr18:13116200-13126200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr18:13116200-13126800	Weak transcription	Esophagus	oesophagus
12	chr18:13116200-13128800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr18:13116200-13130000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr18:13118000-13126400	Weak transcription	Pancreas	Pancrea
15	chr18:13118000-13126400	Weak transcription	Right Ventricle	heart
16	chr18:13118000-13126800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr18:13118000-13126800	Weak transcription	Aorta	Aorta
18	chr18:13118000-13130000	Weak transcription	Small Intestine	intestine
19	chr18:13118200-13126800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr18:13118200-13132600	Weak transcription	HepG2	liver
21	chr18:13118400-13135600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr18:13118400-13136200	Weak transcription	Psoas Muscle	Psoas
23	chr18:13118800-13126400	Weak transcription	Lung	lung
24	chr18:13118800-13130600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr18:13118800-13136800	Weak transcription	HSMMtube	muscle
26	chr18:13119000-13126400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr18:13119000-13127200	Weak transcription	Colonic Mucosa	Colon
28	chr18:13119000-13130800	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr18:13119000-13133400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr18:13119000-13134200	Weak transcription	Fetal Lung	lung
31	chr18:13119000-13136400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr18:13119200-13126400	Weak transcription	Spleen	Spleen
33	chr18:13119200-13126800	Weak transcription	Fetal Muscle Leg	muscle
34	chr18:13119200-13135800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr18:13119200-13136400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr18:13119400-13126400	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr18:13119400-13126600	Weak transcription	Stomach Smooth Muscle	stomach
38	chr18:13119400-13127000	Weak transcription	NHLF	lung
39	chr18:13119400-13130000	Weak transcription	A549	lung
40	chr18:13119400-13133600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr18:13119600-13135400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr18:13120600-13127600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr18:13121000-13126000	Weak transcription	Placenta	Placenta
44	chr18:13121000-13127400	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr18:13121000-13127600	Strong transcription	Fetal Muscle Trunk	muscle
46	chr18:13121000-13127600	Strong transcription	Thymus	Thymus
47	chr18:13121200-13125600	Strong transcription	Fetal Intestine Small	intestine
48	chr18:13121200-13136400	Weak transcription	NHDF-Ad	bronchial
49	chr18:13121400-13126800	Weak transcription	Brain Cingulate Gyrus	brain
50	chr18:13121400-13134000	Weak transcription	HMEC	breast

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