Variant report

Variant	rs2120316
Chromosome Location	chr18:9205100-9205101
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9195200..9197082-chr18:9203483..9205198,2	K562	blood:
2	chr18:9007606..9010125-chr18:9203134..9206117,2	K562	blood:
3	chr18:9204077..9208041-chr18:9208940..9212355,4	K562	blood:

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

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs1046483	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10502391	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1114591	0.93[ASN][1000 genomes]
rs11659948	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12326829	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1443597	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1443598	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16954886	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16954905	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16954914	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17413344	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs17497377	1.00[GIH][hapmap]
rs17498752	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.90[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17498969	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17499116	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1899668	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2298548	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2377962	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs28520663	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28578690	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28619483	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28637808	0.93[ASN][1000 genomes]
rs2864515	0.82[AFR][1000 genomes];0.94[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	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3744822	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3744823	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4356535	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4449017	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4490062	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5011606	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56996721	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57567668	0.93[ASN][1000 genomes]
rs58350342	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59018067	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59616258	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59633812	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	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60143204	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60354371	0.82[AFR][1000 genomes];1.00[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	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7237039	0.86[ASN][1000 genomes]
rs7242002	1.00[CHB][hapmap];1.00[JPT][hapmap];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[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs72935258	0.82[EUR][1000 genomes]
rs72935260	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72935263	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72935265	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72935266	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72935267	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72935274	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72937244	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72937245	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72937248	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72937250	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72937257	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72937258	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72937259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72937263	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72937267	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72937270	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72937287	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72937291	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72937297	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72937301	0.89[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	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72939211	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72939216	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72939219	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72939220	0.87[AFR][1000 genomes];1.00[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	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72939227	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72939230	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72939231	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72939232	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72939235	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72939239	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7505002	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7505782	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7506375	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7506561	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8089057	0.86[ASN][1000 genomes]
rs8094979	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8096630	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs8098516	0.86[ASN][1000 genomes]
rs8098544	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8099583	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9652921	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9675513	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.80[EUR][1000 genomes]
rs9748482	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9748485	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9748751	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	esv3434971	chr18:9204811-9207263	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	n/a	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	chr18:9172000-9216200	Weak transcription	Fetal Brain Female	brain
2	chr18:9173000-9208400	Weak transcription	NHLF	lung
3	chr18:9174600-9233600	Weak transcription	Spleen	Spleen
4	chr18:9174800-9211000	Weak transcription	Hela-S3	cervix
5	chr18:9174800-9233600	Weak transcription	Pancreas	Pancrea
6	chr18:9178000-9221800	Weak transcription	Fetal Heart	heart
7	chr18:9180200-9214200	Weak transcription	A549	lung
8	chr18:9181600-9214200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr18:9183400-9211400	Weak transcription	Brain Germinal Matrix	brain
10	chr18:9183800-9225600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr18:9184600-9233800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr18:9185200-9233800	Weak transcription	Right Ventricle	heart
13	chr18:9185400-9214200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr18:9185400-9223400	Weak transcription	Stomach Mucosa	stomach
15	chr18:9185600-9211000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr18:9185600-9232400	Weak transcription	Colonic Mucosa	Colon
17	chr18:9185800-9215200	Weak transcription	Small Intestine	intestine
18	chr18:9186000-9214400	Weak transcription	Brain Angular Gyrus	brain
19	chr18:9187000-9221800	Weak transcription	Fetal Brain Male	brain
20	chr18:9188400-9214400	Weak transcription	Brain Anterior Caudate	brain
21	chr18:9188400-9233600	Weak transcription	Esophagus	oesophagus
22	chr18:9188600-9205400	Weak transcription	Colon Smooth Muscle	Colon
23	chr18:9188600-9233600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr18:9188800-9211600	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr18:9188800-9218200	Weak transcription	Thymus	Thymus
26	chr18:9189000-9208400	Weak transcription	HSMMtube	muscle
27	chr18:9189200-9208600	Weak transcription	Ovary	ovary
28	chr18:9189200-9233800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr18:9189400-9215000	Weak transcription	Aorta	Aorta
30	chr18:9192200-9210400	Weak transcription	Left Ventricle	heart
31	chr18:9192200-9215400	Weak transcription	Psoas Muscle	Psoas
32	chr18:9192200-9233600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr18:9192200-9284000	Weak transcription	NHEK	skin
34	chr18:9192400-9211600	Weak transcription	HMEC	breast
35	chr18:9192400-9214400	Weak transcription	Fetal Muscle Leg	muscle
36	chr18:9193000-9211400	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr18:9193200-9211200	Weak transcription	Stomach Smooth Muscle	stomach
38	chr18:9193400-9224800	Weak transcription	Lung	lung
39	chr18:9193400-9230600	Weak transcription	Fetal Stomach	stomach
40	chr18:9193800-9211600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr18:9194200-9206000	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr18:9194200-9211400	Weak transcription	NH-A	brain
43	chr18:9194800-9219400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr18:9195200-9214400	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr18:9195800-9211600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr18:9195800-9214400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr18:9196000-9208400	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr18:9196000-9208600	Weak transcription	Dnd41	blood
49	chr18:9196000-9209800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr18:9196200-9207800	Weak transcription	Muscle Satellite Cultured Cells	--

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