Variant report

Variant	rs72939216
Chromosome Location	chr18:9234856-9234857
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	chr18:9226679..9228840-chr18:9232606..9235189,3	K562	blood:
2	chr18:9215514..9219729-chr18:9232451..9235496,3	K562	blood:

Variant related genes	Relation type
ENSG00000101745	Chromatin interaction

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs1046483	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10502391	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[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];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1443597	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1443598	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16954886	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16954905	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16954914	1.00[ASN][1000 genomes]
rs17413344	0.84[AFR][1000 genomes]
rs17498752	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17498969	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17499116	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1899668	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2120316	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2298548	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28520663	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28578690	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs28619483	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28637808	0.93[ASN][1000 genomes]
rs2864515	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28820062	0.86[ASN][1000 genomes]
rs28844999	0.86[ASN][1000 genomes]
rs3213925	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3744822	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3744823	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4356535	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4449017	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4490062	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5011606	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56996721	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57567668	0.93[ASN][1000 genomes]
rs58350342	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59018067	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59616258	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59633812	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59864974	0.93[ASN][1000 genomes]
rs59983698	0.84[AFR][1000 genomes]
rs60119987	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60143204	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60354371	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62085951	0.93[ASN][1000 genomes]
rs6506651	0.86[ASN][1000 genomes]
rs7229105	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7234017	0.86[ASN][1000 genomes]
rs7235358	0.89[AMR][1000 genomes];0.94[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]
rs72935229	0.84[AFR][1000 genomes]
rs72935233	0.84[AFR][1000 genomes]
rs72935236	0.84[AFR][1000 genomes]
rs72935249	0.84[AFR][1000 genomes]
rs72935251	0.84[AFR][1000 genomes]
rs72935258	0.84[AFR][1000 genomes]
rs72935260	0.82[ASN][1000 genomes]
rs72935263	0.82[ASN][1000 genomes]
rs72935265	0.82[ASN][1000 genomes]
rs72935266	0.82[ASN][1000 genomes]
rs72935267	0.82[ASN][1000 genomes]
rs72935274	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72937244	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72937245	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72937248	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72937250	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72937257	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72937258	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72937259	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72937263	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72937267	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72937270	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72937287	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72937291	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72937297	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72937301	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72937302	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72939207	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72939211	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72939219	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72939220	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72939221	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72939224	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72939227	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72939230	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72939231	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72939232	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72939235	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72939239	0.89[AMR][1000 genomes];0.94[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];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7506561	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8089057	0.86[ASN][1000 genomes]
rs8094979	0.89[AMR][1000 genomes];0.87[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];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8099583	1.00[ASN][1000 genomes]
rs9652921	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9675513	0.84[AFR][1000 genomes]
rs9748482	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9748485	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9748751	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9192200-9284000	Weak transcription	NHEK	skin
2	chr18:9211800-9254800	Weak transcription	NH-A	brain
3	chr18:9212200-9254200	Weak transcription	Hela-S3	cervix
4	chr18:9216000-9250000	Weak transcription	Small Intestine	intestine
5	chr18:9216000-9289600	Weak transcription	HMEC	breast
6	chr18:9223000-9241400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr18:9224400-9240600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr18:9226800-9238000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr18:9228200-9258000	Weak transcription	Fetal Heart	heart
10	chr18:9230600-9241800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr18:9231000-9235400	Strong transcription	Placenta	Placenta
12	chr18:9232400-9235200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr18:9232400-9240800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr18:9232600-9235200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
15	chr18:9232600-9239400	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr18:9232600-9254200	Weak transcription	HUVEC	blood vessel
17	chr18:9232600-9261400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr18:9232800-9237800	Strong transcription	Adipose Nuclei	Adipose
19	chr18:9232800-9238600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr18:9232800-9241400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr18:9232800-9242000	Strong transcription	Primary T cells from cord blood	blood
22	chr18:9232800-9243200	Weak transcription	HSMMtube	muscle
23	chr18:9232800-9248000	Weak transcription	Fetal Brain Male	brain
24	chr18:9232800-9273000	Weak transcription	Fetal Kidney	kidney
25	chr18:9233000-9235000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr18:9233000-9235400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr18:9233000-9235400	Strong transcription	Duodenum Mucosa	Duodenum
28	chr18:9233000-9236400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr18:9233000-9237200	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr18:9233000-9244800	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr18:9233200-9235200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr18:9233200-9235600	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr18:9233200-9235800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr18:9233200-9236200	Strong transcription	Dnd41	blood
35	chr18:9233200-9236800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr18:9233200-9236800	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr18:9233200-9237000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr18:9233200-9237400	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr18:9233200-9242400	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr18:9233200-9244800	Strong transcription	Liver	Liver
41	chr18:9233200-9245000	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr18:9233200-9249600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr18:9233200-9264200	Weak transcription	Brain Anterior Caudate	brain
44	chr18:9233400-9235400	Strong transcription	Skeletal Muscle Male	skeletal muscle
45	chr18:9233400-9236400	Strong transcription	Colon Smooth Muscle	Colon
46	chr18:9233400-9236600	Strong transcription	Primary hematopoietic stem cells	blood
47	chr18:9233400-9238000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr18:9233400-9238200	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr18:9233400-9240800	Strong transcription	Primary B cells from peripheral blood	blood
50	chr18:9233400-9241000	Strong transcription	Duodenum Smooth Muscle	Duodenum

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