Variant report

Variant	rs11042252
Chromosome Location	chr11:9285736-9285737
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:9283842..9286911-chr11:9307794..9310804,4	K562	blood:
2	chr11:9284942..9289829-chr11:9481407..9484206,5	MCF-7	breast:
3	chr11:9285385..9287169-chr11:9480610..9482898,2	K562	blood:
4	chr11:9283945..9288774-chr11:9332278..9339081,12	K562	blood:
5	chr11:9285208..9288330-chr11:9480610..9483327,3	K562	blood:
6	chr11:9282323..9285944-chr11:9290054..9293255,4	K562	blood:
7	chr11:9283600..9286553-chr11:9290163..9293255,5	K562	blood:
8	chr11:9285399..9287969-chr11:9480073..9484247,5	MCF-7	breast:
9	chr11:9284656..9288251-chr11:9406150..9408599,6	K562	blood:
10	chr11:9260075..9262921-chr11:9283995..9286236,2	K562	blood:
11	chr11:9276956..9280134-chr11:9283960..9286247,3	K562	blood:
12	chr11:9285630..9286461-chr11:9482670..9483270,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000205339	Chromatin interaction
ENSG00000268403	Chromatin interaction
ENSG00000166471	Chromatin interaction
ENSG00000254884	Chromatin interaction
ENSG00000166478	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10743104	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10770000	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10770001	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10770002	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10770003	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10770004	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10770006	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10770008	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10770009	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10770010	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10770013	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10840194	0.84[ASN][1000 genomes]
rs10840196	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10840199	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10840200	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10840204	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10840205	0.83[ASN][1000 genomes]
rs10840207	0.81[ASN][1000 genomes]
rs11042245	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11042256	0.91[ASN][1000 genomes]
rs11042262	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11042264	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11042265	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11042266	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11042267	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11042269	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11042274	0.85[ASN][1000 genomes]
rs11500788	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11602591	0.92[ASN][1000 genomes]
rs12574882	0.83[ASN][1000 genomes]
rs12796666	0.87[ASN][1000 genomes]
rs12801814	0.90[ASN][1000 genomes]
rs2133216	0.91[ASN][1000 genomes]
rs34446443	0.90[ASN][1000 genomes]
rs34494849	0.90[ASN][1000 genomes]
rs34716494	0.92[ASN][1000 genomes]
rs35381016	0.91[ASN][1000 genomes]
rs35686957	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4325312	0.82[ASN][1000 genomes]
rs4343026	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4369406	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4447178	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4570580	0.81[ASN][1000 genomes]
rs4601779	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4641476	0.80[ASN][1000 genomes]
rs5014247	0.90[ASN][1000 genomes]
rs61875672	0.92[ASN][1000 genomes]
rs61875673	0.91[ASN][1000 genomes]
rs61877916	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6486210	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6486215	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6486231	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7101432	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7109911	0.87[AMR][1000 genomes]
rs7112540	0.88[AMR][1000 genomes]
rs7114688	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7116459	0.91[ASN][1000 genomes]
rs7121013	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7123342	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7124178	0.97[ASN][1000 genomes]
rs71476818	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7358313	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7358392	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7396439	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs770	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7933448	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7941520	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7951700	0.86[ASN][1000 genomes]
rs7952508	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9736263	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9282800-9285800	Weak transcription	Spleen	Spleen
2	chr11:9283600-9287000	Active TSS	GM12878-XiMat	blood
3	chr11:9284400-9287600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr11:9284600-9287600	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr11:9284800-9287000	Active TSS	Hela-S3	cervix
6	chr11:9284800-9287000	Active TSS	HSMM	muscle
7	chr11:9284800-9287200	Active TSS	Osteobl	bone
8	chr11:9284800-9287600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:9284800-9287600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr11:9284800-9287600	Active TSS	NHDF-Ad	bronchial
11	chr11:9284800-9287800	Active TSS	Brain Anterior Caudate	brain
12	chr11:9285000-9287000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr11:9285000-9287000	Active TSS	Muscle Satellite Cultured Cells	--
14	chr11:9285000-9287000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:9285000-9287000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr11:9285000-9287200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:9285000-9287200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr11:9285000-9287200	Active TSS	Brain Hippocampus Middle	brain
19	chr11:9285000-9287200	Active TSS	Placenta	Placenta
20	chr11:9285000-9287200	Active TSS	Psoas Muscle	Psoas
21	chr11:9285000-9287200	Active TSS	Monocytes-CD14+_RO01746	blood
22	chr11:9285000-9287400	Active TSS	Left Ventricle	heart
23	chr11:9285000-9287400	Active TSS	Right Atrium	heart
24	chr11:9285000-9287400	Active TSS	Right Ventricle	heart
25	chr11:9285200-9285800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr11:9285400-9285800	Active TSS	Primary T cells fromperipheralblood	blood
27	chr11:9285400-9285800	Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr11:9285400-9285800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
29	chr11:9285400-9285800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr11:9285400-9285800	Flanking Active TSS	Brain Angular Gyrus	brain
31	chr11:9285400-9285800	Flanking Active TSS	Colon Smooth Muscle	Colon
32	chr11:9285400-9285800	Flanking Active TSS	Fetal Muscle Leg	muscle
33	chr11:9285400-9285800	Flanking Active TSS	NHEK	skin
34	chr11:9285400-9286000	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr11:9285400-9286000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr11:9285400-9286000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr11:9285400-9286000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr11:9285400-9286000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:9285400-9286200	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr11:9285400-9286200	Flanking Active TSS	Primary B cells from peripheral blood	blood
41	chr11:9285400-9286200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
42	chr11:9285400-9286200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr11:9285400-9286200	Active TSS	Colonic Mucosa	Colon
44	chr11:9285400-9287000	Active TSS	Liver	Liver
45	chr11:9285400-9287000	Active TSS	Fetal Muscle Trunk	muscle
46	chr11:9285400-9287000	Active TSS	Rectal Mucosa Donor 31	rectum
47	chr11:9285400-9287000	Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr11:9285400-9287000	Active TSS	Stomach Smooth Muscle	stomach
49	chr11:9285400-9287000	Active TSS	HMEC	breast
50	chr11:9285400-9287000	Active TSS	HSMMtube	muscle

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