Variant report

Variant	rs11042254
Chromosome Location	chr11:9292619-9292620
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:9290328..9292720-chr11:9293368..9296005,3	K562	blood:
2	chr11:9282323..9285944-chr11:9290054..9293255,4	K562	blood:
3	chr11:9283600..9286553-chr11:9290163..9293255,5	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10743100	1.00[EUR][1000 genomes]
rs10743102	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10743103	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10840197	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10840198	1.00[EUR][1000 genomes]
rs10840203	0.83[AMR][1000 genomes]
rs12225143	1.00[EUR][1000 genomes]
rs1809855	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1874821	1.00[EUR][1000 genomes]
rs2016375	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4243946	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4331093	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4384389	0.85[AFR][1000 genomes]
rs4414214	1.00[EUR][1000 genomes]
rs4420271	1.00[EUR][1000 genomes]
rs4450172	1.00[EUR][1000 genomes]
rs4589301	1.00[EUR][1000 genomes]
rs4601780	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4625467	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4644643	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4910448	1.00[EUR][1000 genomes]
rs4993930	0.82[AFR][1000 genomes]
rs5025277	0.88[AFR][1000 genomes]
rs56306422	1.00[EUR][1000 genomes]
rs57052969	1.00[EUR][1000 genomes]
rs57655359	1.00[EUR][1000 genomes]
rs58309260	1.00[EUR][1000 genomes]
rs58361373	1.00[EUR][1000 genomes]
rs58795427	1.00[EUR][1000 genomes]
rs59398820	1.00[EUR][1000 genomes]
rs59400072	1.00[EUR][1000 genomes]
rs59618374	1.00[EUR][1000 genomes]
rs59984721	1.00[EUR][1000 genomes]
rs60542289	1.00[EUR][1000 genomes]
rs60602151	1.00[EUR][1000 genomes]
rs60731772	1.00[EUR][1000 genomes]
rs60960132	1.00[EUR][1000 genomes]
rs61217844	1.00[EUR][1000 genomes]
rs61379640	1.00[EUR][1000 genomes]
rs61409427	1.00[EUR][1000 genomes]
rs6486149	1.00[EUR][1000 genomes]
rs7119158	1.00[EUR][1000 genomes]
rs73402319	1.00[EUR][1000 genomes]
rs73402323	1.00[EUR][1000 genomes]
rs73402339	1.00[EUR][1000 genomes]
rs73402344	1.00[EUR][1000 genomes]
rs73402346	1.00[EUR][1000 genomes]
rs73402362	1.00[EUR][1000 genomes]
rs73402399	1.00[EUR][1000 genomes]
rs73404303	1.00[EUR][1000 genomes]
rs73404305	1.00[EUR][1000 genomes]
rs73412019	1.00[EUR][1000 genomes]
rs73412032	1.00[EUR][1000 genomes]
rs73416044	1.00[EUR][1000 genomes]
rs73416046	1.00[EUR][1000 genomes]
rs73416057	1.00[EUR][1000 genomes]
rs7927382	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7931491	1.00[EUR][1000 genomes]
rs7932136	1.00[EUR][1000 genomes]
rs7932954	1.00[EUR][1000 genomes]
rs7935518	1.00[EUR][1000 genomes]
rs7942119	1.00[EUR][1000 genomes]
rs7944130	1.00[EUR][1000 genomes]
rs7944713	1.00[EUR][1000 genomes]
rs7948651	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33264	chr11:9007612-9311131	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1040049	chr11:9152536-9363488	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats 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	24 gene(s)	inside rSNPs	diseases
3	nsv916534	chr11:9188436-9516241	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
4	nsv1053045	chr11:9208881-9363488	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv540947	chr11:9208881-9363488	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv1055078	chr11:9252857-9538877	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
7	nsv515891	chr11:9275898-9334961	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
8	nsv7669	chr11:9290376-9335028	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9287400-9301600	Weak transcription	Esophagus	oesophagus
2	chr11:9287400-9302000	Weak transcription	Spleen	Spleen
3	chr11:9287400-9319600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:9287400-9332600	Weak transcription	HMEC	breast
5	chr11:9287400-9333000	Weak transcription	Gastric	stomach
6	chr11:9287600-9293800	Weak transcription	Left Ventricle	heart
7	chr11:9287600-9295400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr11:9287600-9296200	Weak transcription	Fetal Lung	lung
9	chr11:9287600-9296200	Weak transcription	Right Ventricle	heart
10	chr11:9287600-9299800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:9287600-9301600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:9287600-9301800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr11:9287600-9302000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr11:9287600-9302000	Weak transcription	HSMM	muscle
15	chr11:9287600-9302000	Weak transcription	Osteobl	bone
16	chr11:9287600-9304800	Weak transcription	NHEK	skin
17	chr11:9287600-9319200	Weak transcription	NHLF	lung
18	chr11:9287800-9295800	Weak transcription	Lung	lung
19	chr11:9287800-9296200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr11:9287800-9296400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:9287800-9298000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:9287800-9298000	Weak transcription	Placenta	Placenta
23	chr11:9287800-9298200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:9287800-9298800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr11:9287800-9300800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr11:9287800-9301600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:9287800-9301600	Weak transcription	Fetal Intestine Large	intestine
28	chr11:9287800-9301800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr11:9287800-9301800	Weak transcription	Duodenum Mucosa	Duodenum
30	chr11:9287800-9302400	Weak transcription	Brain Germinal Matrix	brain
31	chr11:9287800-9305200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr11:9287800-9312200	Weak transcription	K562	blood
33	chr11:9287800-9328400	Weak transcription	A549	lung
34	chr11:9287800-9333800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr11:9288000-9296200	Weak transcription	Brain Angular Gyrus	brain
36	chr11:9288000-9301800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr11:9288000-9320400	Weak transcription	Fetal Kidney	kidney
38	chr11:9288200-9321200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:9288600-9323200	Weak transcription	Pancreas	Pancrea
40	chr11:9289600-9311600	Weak transcription	HepG2	liver
41	chr11:9289600-9314400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr11:9289800-9301200	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr11:9289800-9302000	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr11:9290000-9301600	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr11:9290000-9301600	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr11:9290000-9301600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr11:9290000-9301800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr11:9290000-9302000	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr11:9290000-9318000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr11:9291400-9295600	Weak transcription	Right Atrium	heart

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