Variant report

Variant	rs59633812
Chromosome Location	chr18:9275542-9275543
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:9275475..9277686-chr18:9279833..9282533,2	K562	blood:

Extended variants
information (count: 112 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs1046483	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10502391	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1114591	0.93[ASN][1000 genomes]
rs11659948	1.00[ASN][1000 genomes]
rs12326829	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1443597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1443598	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16954886	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16954905	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16954914	1.00[ASN][1000 genomes]
rs17413344	0.80[EUR][1000 genomes]
rs17498752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17498969	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17499116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1899668	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2120316	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2298548	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28520663	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28578690	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28619483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28637808	0.93[ASN][1000 genomes]
rs2864515	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28820062	0.86[ASN][1000 genomes]
rs28844999	0.86[ASN][1000 genomes]
rs3213925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3744822	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3744823	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4356535	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4449017	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4490062	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5011606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56996721	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57567668	0.93[ASN][1000 genomes]
rs58350342	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59018067	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59616258	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59864974	0.93[ASN][1000 genomes]
rs59983698	0.80[EUR][1000 genomes]
rs60119987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60143204	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60354371	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62085951	0.93[ASN][1000 genomes]
rs6506651	0.86[ASN][1000 genomes]
rs7229105	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7234017	0.86[ASN][1000 genomes]
rs7235358	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7237039	0.86[ASN][1000 genomes]
rs7242002	0.86[ASN][1000 genomes]
rs7242624	0.86[ASN][1000 genomes]
rs72935233	0.80[EUR][1000 genomes]
rs72935236	0.80[EUR][1000 genomes]
rs72935248	0.82[EUR][1000 genomes]
rs72935249	0.82[EUR][1000 genomes]
rs72935251	0.82[EUR][1000 genomes]
rs72935253	0.82[EUR][1000 genomes]
rs72935258	0.82[EUR][1000 genomes]
rs72935260	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72935263	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72935265	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72935266	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72935267	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72935274	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72937244	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72937245	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72937248	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72937250	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72937257	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72937258	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72937259	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72937263	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72937267	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72937270	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72937287	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72937291	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72937297	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72937301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72937302	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72939207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72939211	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72939216	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72939219	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72939220	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72939221	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72939224	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72939227	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72939230	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72939231	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72939232	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72939235	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72939239	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7505002	0.86[ASN][1000 genomes]
rs7505671	0.82[AMR][1000 genomes]
rs7506375	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7506561	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8089057	0.86[ASN][1000 genomes]
rs8094979	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8096630	0.86[ASN][1000 genomes]
rs8098516	0.86[ASN][1000 genomes]
rs8098544	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8099583	1.00[ASN][1000 genomes]
rs9652921	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9675513	0.80[EUR][1000 genomes]
rs9748482	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9748485	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9748751	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv431971	chr18:9081185-9326852	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1056407	chr18:9144345-9553764	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1055696	chr18:9191679-9309805	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv458023	chr18:9240413-9357786	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv576447	chr18:9240413-9357786	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv2201	chr18:9247631-9279825	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr18:9192200-9284000	Weak transcription	NHEK	skin
2	chr18:9216000-9289600	Weak transcription	HMEC	breast
3	chr18:9234400-9280400	Weak transcription	Psoas Muscle	Psoas
4	chr18:9234600-9278000	Weak transcription	Brain Angular Gyrus	brain
5	chr18:9234800-9290000	Weak transcription	NHLF	lung
6	chr18:9235000-9285400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr18:9240600-9275800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr18:9240800-9279800	Weak transcription	Colon Smooth Muscle	Colon
9	chr18:9243600-9278000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr18:9243600-9283000	Weak transcription	Brain Substantia Nigra	brain
11	chr18:9254800-9280000	Weak transcription	Hela-S3	cervix
12	chr18:9255000-9281400	Weak transcription	HUVEC	blood vessel
13	chr18:9255000-9282600	Weak transcription	A549	lung
14	chr18:9255200-9275600	Weak transcription	NH-A	brain
15	chr18:9257000-9277800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr18:9258600-9279000	Weak transcription	Fetal Brain Male	brain
17	chr18:9260200-9285600	Weak transcription	Small Intestine	intestine
18	chr18:9261400-9283400	Weak transcription	Fetal Heart	heart
19	chr18:9262800-9276400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr18:9264600-9281600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr18:9265000-9275600	Weak transcription	Dnd41	blood
22	chr18:9265000-9275800	Weak transcription	GM12878-XiMat	blood
23	chr18:9265000-9276200	Weak transcription	NHDF-Ad	bronchial
24	chr18:9265000-9286000	Weak transcription	K562	blood
25	chr18:9265200-9275800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr18:9265200-9277000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr18:9265200-9278600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr18:9265200-9281200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr18:9265200-9281200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr18:9265200-9284200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr18:9265200-9286600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr18:9265400-9286800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr18:9265400-9287200	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr18:9265600-9275600	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr18:9265600-9275600	Weak transcription	Brain Anterior Caudate	brain
36	chr18:9265600-9275600	Weak transcription	Brain Hippocampus Middle	brain
37	chr18:9265600-9275600	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr18:9265600-9275800	Weak transcription	Brain Germinal Matrix	brain
39	chr18:9265600-9276000	Weak transcription	Lung	lung
40	chr18:9265600-9276400	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr18:9265600-9276400	Weak transcription	Thymus	Thymus
42	chr18:9265600-9278000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr18:9265600-9278000	Weak transcription	HepG2	liver
44	chr18:9265600-9278400	Weak transcription	Gastric	stomach
45	chr18:9265600-9278400	Weak transcription	Spleen	Spleen
46	chr18:9265600-9280000	Weak transcription	Colonic Mucosa	Colon
47	chr18:9265600-9282200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr18:9265600-9282600	Weak transcription	Right Ventricle	heart
49	chr18:9265600-9288400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr18:9265600-9289600	Weak transcription	Esophagus	oesophagus

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