Variant report

Variant	rs11235885
Chromosome Location	chr11:73450839-73450840
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 92 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs1043234	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10501412	0.94[AMR][1000 genomes]
rs10898943	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10898947	0.84[AMR][1000 genomes]
rs10898949	0.84[AMR][1000 genomes]
rs11235844	0.80[AFR][1000 genomes]
rs11235850	0.80[AFR][1000 genomes]
rs11235851	0.80[AFR][1000 genomes]
rs11235852	0.84[EUR][1000 genomes]
rs11235859	0.90[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs11235860	0.84[EUR][1000 genomes]
rs11235864	0.86[EUR][1000 genomes]
rs11235875	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11235881	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11235882	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11235886	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11235887	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11235888	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11235898	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11235905	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11235907	0.97[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11235908	0.97[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11235910	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11235913	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11235914	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11235915	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11235920	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11235922	0.94[AMR][1000 genomes]
rs11235925	0.88[AMR][1000 genomes]
rs11235927	0.88[AMR][1000 genomes]
rs11235931	0.84[AMR][1000 genomes]
rs11235933	0.84[AMR][1000 genomes]
rs11235934	0.84[AMR][1000 genomes]
rs11235939	0.84[AMR][1000 genomes]
rs11235947	0.84[AMR][1000 genomes]
rs12365044	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12365080	0.88[AMR][1000 genomes]
rs12366033	0.80[AFR][1000 genomes]
rs12420099	0.84[AMR][1000 genomes]
rs12420751	0.84[AMR][1000 genomes]
rs12421077	0.84[AMR][1000 genomes]
rs12421900	0.88[AMR][1000 genomes]
rs17132369	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17132397	0.84[AMR][1000 genomes]
rs17132403	0.84[AMR][1000 genomes]
rs17132411	0.84[AMR][1000 genomes]
rs1723840	0.91[ASN][1000 genomes]
rs1814547	0.94[AMR][1000 genomes]
rs1830069	0.88[ASN][1000 genomes]
rs1869433	0.94[AMR][1000 genomes]
rs2037710	0.83[EUR][1000 genomes]
rs2140892	0.88[ASN][1000 genomes]
rs3211165	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3741137	0.84[AMR][1000 genomes]
rs4537782	0.82[AMR][1000 genomes]
rs4944028	0.86[EUR][1000 genomes]
rs4944029	0.90[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs4944032	0.86[EUR][1000 genomes]
rs4944033	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4944034	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4944856	0.84[EUR][1000 genomes]
rs4944862	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4944868	0.94[AMR][1000 genomes]
rs4944869	0.84[AMR][1000 genomes]
rs55910552	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58862453	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60020777	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs60074535	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60239378	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66481935	0.80[AFR][1000 genomes]
rs66556722	0.90[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs66610247	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs66626689	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67167213	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67488767	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs68128239	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs7115166	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7119528	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72974866	0.86[EUR][1000 genomes]
rs72974869	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72976852	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72982926	0.84[AMR][1000 genomes]
rs72982937	0.84[AMR][1000 genomes]
rs72989228	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7929705	0.97[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7939193	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3395161	chr11:73084616-73461577	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv1045149	chr11:73314565-73581908	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv530641	chr11:73358393-73638725	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv897912	chr11:73436008-73477045	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11235885	RP11-707G14.1	cis	Thyroid	GTEx

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73411000-73460000	Weak transcription	Colonic Mucosa	Colon
2	chr11:73413400-73470800	Weak transcription	Esophagus	oesophagus
3	chr11:73415000-73470200	Weak transcription	Aorta	Aorta
4	chr11:73417200-73469600	Weak transcription	Fetal Kidney	kidney
5	chr11:73418400-73463200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr11:73422400-73454000	Weak transcription	Gastric	stomach
7	chr11:73428400-73469800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:73430000-73451600	Weak transcription	HSMMtube	muscle
9	chr11:73430000-73460800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr11:73430600-73456800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr11:73430600-73460800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr11:73430600-73462800	Weak transcription	HMEC	breast
13	chr11:73430600-73468800	Weak transcription	NHLF	lung
14	chr11:73430800-73470600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr11:73432000-73460600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr11:73432000-73460600	Weak transcription	Placenta	Placenta
17	chr11:73432000-73462200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr11:73432000-73465200	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr11:73432000-73465200	Weak transcription	NHEK	skin
20	chr11:73432600-73453400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr11:73436600-73460600	Weak transcription	Small Intestine	intestine
22	chr11:73436800-73458600	Weak transcription	K562	blood
23	chr11:73436800-73458800	Weak transcription	A549	lung
24	chr11:73436800-73461000	Weak transcription	Primary hematopoietic stem cells	blood
25	chr11:73437000-73451000	Weak transcription	Liver	Liver
26	chr11:73437000-73461000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr11:73437000-73469400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr11:73437600-73468600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr11:73441000-73458800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr11:73441200-73451400	Weak transcription	Fetal Lung	lung
31	chr11:73441200-73462800	Weak transcription	Fetal Thymus	thymus
32	chr11:73441200-73464000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr11:73441200-73468600	Weak transcription	Dnd41	blood
34	chr11:73441200-73470000	Weak transcription	Stomach Smooth Muscle	stomach
35	chr11:73441600-73456600	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr11:73441800-73462600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr11:73442200-73458600	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr11:73442200-73469600	Weak transcription	HSMM	muscle
39	chr11:73442400-73461600	Weak transcription	HUVEC	blood vessel
40	chr11:73442400-73469800	Weak transcription	Primary B cells from cord blood	blood
41	chr11:73442600-73460800	Weak transcription	Pancreas	Pancrea
42	chr11:73443400-73452200	Weak transcription	Right Atrium	heart
43	chr11:73446000-73451400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr11:73446400-73451200	Weak transcription	Brain Angular Gyrus	brain
45	chr11:73446400-73453600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr11:73446400-73459000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr11:73446400-73468400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr11:73446400-73468600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr11:73446600-73452400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr11:73446600-73456200	Weak transcription	Brain Cingulate Gyrus	brain

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