Variant report

Variant	rs11188809
Chromosome Location	chr10:98275970-98275971
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:98275700-98276541	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr10:98275741-98276420	HCT-116	colon:	n/a	n/a
3	POLR2A	chr10:98275641-98276048	K562	blood:	n/a	n/a
4	POLR2A	chr10:98274761-98279712	HepG2	liver:	n/a	n/a
5	FOSL2	chr10:98275776-98276573	HepG2	liver:	n/a	n/a
6	POLR2A	chr10:98274807-98276631	PFSK-1	brain:	n/a	n/a
7	POLR2A	chr10:98275860-98276700	HL-60	blood:	n/a	n/a
8	POLR2A	chr10:98275826-98276475	GM12878	blood:	n/a	n/a
9	NFATC1	chr10:98275816-98276610	GM12878	blood:	n/a	n/a
10	POLR2A	chr10:98273498-98281377	K562	blood:	n/a	n/a
11	NFATC1	chr10:98275786-98276559	GM12878	blood:	n/a	n/a
12	POLR2A	chr10:98275895-98276652	GM12891	blood:	n/a	n/a
13	POLR2A	chr10:98275665-98276675	PANC-1	pancreas:	n/a	n/a
14	POLR2A	chr10:98274770-98278497	A549	lung:	n/a	n/a
15	MTA3	chr10:98275959-98276534	GM12878	blood:	n/a	n/a
16	POLR2A	chr10:98275744-98276281	HUVEC	blood vessel:	n/a	n/a
17	POLR2A	chr10:98274907-98276544	K562	blood:	n/a	n/a
18	POLR2A	chr10:98274228-98276144	PFSK-1	brain:	n/a	n/a
19	POLR2A	chr10:98275777-98276496	GM12878	blood:	n/a	n/a
20	POLR2A	chr10:98272897-98276825	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr10:98275835-98277678	GM12891	blood:	n/a	n/a
22	STAT5A	chr10:98275961-98276373	GM12878	blood:	n/a	chr10:98276117-98276125

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:98275887..98277539-chr10:98291073..98293689,2	K562	blood:
2	chr10:98275547..98277639-chr10:98319561..98321420,2	K562	blood:
3	chr10:98273766..98276351-chr10:98285561..98287495,2	K562	blood:

No data

Variant related genes	Relation type
TLL2	TF binding region
ENSG00000235677	Chromatin interaction

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10128106	0.94[ASN][1000 genomes]
rs1018604	0.82[ASN][1000 genomes]
rs1018605	0.82[ASN][1000 genomes]
rs1051450	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1063605	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10882809	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10882811	0.94[ASN][1000 genomes]
rs10882813	0.94[ASN][1000 genomes]
rs10882815	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10882817	0.94[ASN][1000 genomes]
rs10882821	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10882827	0.83[AMR][1000 genomes]
rs11188810	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188811	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188813	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188814	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188815	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188817	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188821	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188822	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188825	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188827	0.91[ASN][1000 genomes]
rs11188831	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11188832	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11188833	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11188840	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11188842	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11188844	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11188847	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11188848	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11188858	0.81[AMR][1000 genomes]
rs1132913	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1132914	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1156035	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1156036	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11814010	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12218847	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12219275	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12220047	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12221143	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12221262	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12413053	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12414612	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12415048	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12416646	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12761817	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12766248	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12775533	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12776810	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12779720	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1324255	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1324256	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1324259	0.82[ASN][1000 genomes]
rs1408367	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17391547	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17482382	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2011190	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2025451	0.82[ASN][1000 genomes]
rs2031326	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2031329	0.94[ASN][1000 genomes]
rs33964467	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35779764	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36098523	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3689	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3748236	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3748237	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3748238	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3789957	0.94[ASN][1000 genomes]
rs3789958	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3818389	0.94[ASN][1000 genomes]
rs4485036	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4534508	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4919029	0.94[ASN][1000 genomes]
rs4919032	0.85[ASN][1000 genomes]
rs4919037	0.82[ASN][1000 genomes]
rs58305369	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs61858194	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61858494	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61859300	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7069429	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7070686	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7071044	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7071224	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7071881	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7073017	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7073682	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7074516	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7082873	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7085389	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7086213	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7086240	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7087478	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7091606	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7097291	0.82[ASN][1000 genomes]
rs713251	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7448	0.82[ASN][1000 genomes]
rs7919739	0.94[ASN][1000 genomes]
rs8578	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9633703	0.85[ASN][1000 genomes]
rs9664749	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9664955	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3413353	chr10:98039370-98561524	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:98274000-98282800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr10:98274000-98285800	Weak transcription	Aorta	Aorta
3	chr10:98274200-98276000	Weak transcription	Psoas Muscle	Psoas
4	chr10:98274200-98276200	Weak transcription	Esophagus	oesophagus
5	chr10:98274200-98276400	Weak transcription	Right Atrium	heart
6	chr10:98274200-98277200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr10:98274200-98277400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr10:98274200-98277600	Weak transcription	NH-A	brain
9	chr10:98274200-98280400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr10:98274200-98280600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr10:98274200-98281400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr10:98274200-98284600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr10:98274200-98285400	Weak transcription	Colonic Mucosa	Colon
14	chr10:98274200-98285600	Weak transcription	Gastric	stomach
15	chr10:98274200-98285600	Weak transcription	Left Ventricle	heart
16	chr10:98274200-98285600	Weak transcription	Lung	lung
17	chr10:98274200-98285600	Weak transcription	Ovary	ovary
18	chr10:98274200-98285600	Weak transcription	Right Ventricle	heart
19	chr10:98274200-98303600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr10:98274200-98314000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr10:98274200-98328600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr10:98274200-98328600	Weak transcription	Pancreas	Pancrea
23	chr10:98274200-98331200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr10:98274400-98276000	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr10:98274400-98276400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr10:98274400-98277600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr10:98274400-98278000	Weak transcription	Liver	Liver
28	chr10:98274400-98278000	Weak transcription	Duodenum Mucosa	Duodenum
29	chr10:98274400-98280000	Weak transcription	HMEC	breast
30	chr10:98274400-98280200	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr10:98274400-98280400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr10:98274400-98280400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr10:98274400-98280400	Weak transcription	Placenta	Placenta
34	chr10:98274400-98280400	Weak transcription	NHLF	lung
35	chr10:98274400-98280600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr10:98274400-98280600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr10:98274400-98280800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr10:98274400-98280800	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr10:98274400-98281200	Weak transcription	NHEK	skin
40	chr10:98274400-98281600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr10:98274400-98281600	Weak transcription	Brain Cingulate Gyrus	brain
42	chr10:98274400-98285000	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr10:98274400-98285000	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr10:98274400-98285000	Weak transcription	Stomach Smooth Muscle	stomach
45	chr10:98274400-98285600	Weak transcription	Brain Angular Gyrus	brain
46	chr10:98274400-98285600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr10:98274400-98285600	Weak transcription	Spleen	Spleen
48	chr10:98274400-98285800	Weak transcription	Brain Substantia Nigra	brain
49	chr10:98274400-98286000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr10:98274400-98287200	Weak transcription	Colon Smooth Muscle	Colon

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