Variant report

Variant	rs72939211
Chromosome Location	chr18:9233636-9233637
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9226679..9228840-chr18:9232606..9235189,3	K562	blood:
2	chr18:9232336..9233961-chr18:9235891..9237458,2	K562	blood:
3	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	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10502391	0.80[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	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1443597	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1443598	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16954886	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16954905	0.90[AFR][1000 genomes];0.90[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	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17498969	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17499116	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1899668	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2120316	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2298548	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28520663	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28578690	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28619483	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28637808	0.93[ASN][1000 genomes]
rs2864515	0.90[AFR][1000 genomes];0.85[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	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3744822	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3744823	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4356535	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4449017	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4490062	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5011606	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56996721	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57567668	0.93[ASN][1000 genomes]
rs58350342	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59018067	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59616258	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59633812	0.80[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	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60143204	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60354371	0.90[AFR][1000 genomes];0.90[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	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7234017	0.86[ASN][1000 genomes]
rs7235358	0.90[AFR][1000 genomes];0.90[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	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72937244	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72937245	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72937248	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72937250	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72937257	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72937258	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72937259	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72937263	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72937267	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72937270	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72937287	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72937291	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72937297	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72937301	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72937302	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72939207	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72939216	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72939219	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72939220	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72939221	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72939224	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72939227	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72939230	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72939231	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72939232	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72939235	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72939239	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7505002	0.86[ASN][1000 genomes]
rs7506375	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7506561	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8089057	0.86[ASN][1000 genomes]
rs8094979	0.90[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	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8099583	1.00[ASN][1000 genomes]
rs9652921	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9675513	0.80[EUR][1000 genomes]
rs9748482	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9748485	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9748751	0.85[AMR][1000 genomes];0.85[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:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9184600-9233800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr18:9185200-9233800	Weak transcription	Right Ventricle	heart
3	chr18:9189200-9233800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr18:9192200-9284000	Weak transcription	NHEK	skin
5	chr18:9202200-9234000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr18:9211800-9254800	Weak transcription	NH-A	brain
7	chr18:9212200-9254200	Weak transcription	Hela-S3	cervix
8	chr18:9215800-9233800	Weak transcription	Aorta	Aorta
9	chr18:9216000-9250000	Weak transcription	Small Intestine	intestine
10	chr18:9216000-9289600	Weak transcription	HMEC	breast
11	chr18:9217000-9233800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr18:9222600-9234000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr18:9223000-9241400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr18:9224400-9240600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr18:9226600-9233800	Weak transcription	Left Ventricle	heart
16	chr18:9226800-9233800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr18:9226800-9238000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr18:9227800-9234400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr18:9228000-9234200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
20	chr18:9228200-9233800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr18:9228200-9258000	Weak transcription	Fetal Heart	heart
22	chr18:9228400-9233800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr18:9228400-9233800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr18:9229800-9233800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr18:9230600-9234000	ZNF genes & repeats	Fetal Intestine Small	intestine
26	chr18:9230600-9241800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr18:9231000-9233800	ZNF genes & repeats	GM12878-XiMat	blood
28	chr18:9231000-9234600	Strong transcription	HSMM	muscle
29	chr18:9231000-9234600	Strong transcription	Osteobl	bone
30	chr18:9231000-9235400	Strong transcription	Placenta	Placenta
31	chr18:9231200-9233800	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
32	chr18:9231400-9233800	ZNF genes & repeats	Fetal Intestine Large	intestine
33	chr18:9231600-9233800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
34	chr18:9232000-9234400	ZNF genes & repeats	Brain Germinal Matrix	brain
35	chr18:9232200-9233800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
36	chr18:9232200-9234400	ZNF genes & repeats	Ovary	ovary
37	chr18:9232200-9234800	Strong transcription	NHLF	lung
38	chr18:9232400-9234000	ZNF genes & repeats	Thymus	Thymus
39	chr18:9232400-9234600	Strong transcription	Colonic Mucosa	Colon
40	chr18:9232400-9235200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr18:9232400-9240800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr18:9232600-9233800	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr18:9232600-9233800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr18:9232600-9233800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr18:9232600-9234000	Weak transcription	Psoas Muscle	Psoas
46	chr18:9232600-9235200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
47	chr18:9232600-9239400	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr18:9232600-9254200	Weak transcription	HUVEC	blood vessel
49	chr18:9232600-9261400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr18:9232800-9233800	Weak transcription	Stomach Smooth Muscle	stomach

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