Variant report

Variant	rs10742194
Chromosome Location	chr11:3953708-3953709
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:3952774..3955430-chr11:3970846..3973149,2	K562	blood:
2	chr11:3946137..3948260-chr11:3950901..3953972,3	MCF-7	breast:
3	chr11:3952025..3954655-chr11:3956750..3959173,2	MCF-7	breast:
4	chr11:3953433..3955295-chr11:3966912..3968910,2	K562	blood:

Variant related genes	Relation type
ENSG00000167323	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10734400	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10742207	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10742229	0.90[YRI][hapmap]
rs10767775	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10767827	0.97[YRI][hapmap]
rs10835500	0.87[EUR][1000 genomes]
rs11030584	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11030814	0.94[YRI][hapmap]
rs1442725	0.93[YRI][hapmap]
rs1465952	0.86[YRI][hapmap]
rs2289570	0.93[YRI][hapmap]
rs2860454	1.00[JPT][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2898950	0.93[YRI][hapmap]
rs2923946	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2923951	0.83[YRI][hapmap]
rs2923958	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[YRI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2959058	0.89[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2959059	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2959061	0.93[YRI][hapmap]
rs2959072	0.87[YRI][hapmap]
rs2959073	0.94[YRI][hapmap]
rs2959080	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4379839	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4910588	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910595	0.93[YRI][hapmap]
rs4910874	0.93[YRI][hapmap]
rs4910881	1.00[YRI][hapmap]
rs6578430	0.80[EUR][1000 genomes]
rs6578440	0.90[YRI][hapmap]
rs727152	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7928763	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7945918	0.93[YRI][hapmap]
rs894455	0.94[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049560	chr11:3678259-3980746	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv540907	chr11:3678259-3980746	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1052744	chr11:3739162-4017601	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats 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 miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1047025	chr11:3750969-4017601	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv1046065	chr11:3808818-4049150	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv540909	chr11:3808818-4049150	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv869701	chr11:3879297-3973762	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	nsv1043039	chr11:3903226-3955159	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	nsv896895	chr11:3942001-3972236	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3938400-3956400	Weak transcription	Dnd41	blood
2	chr11:3939000-3956000	Weak transcription	Esophagus	oesophagus
3	chr11:3943400-3954800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr11:3948200-3955800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr11:3948200-3955800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr11:3948400-3960400	Weak transcription	NHEK	skin
7	chr11:3948600-3955600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr11:3948800-3954400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr11:3948800-3960800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:3949000-3961400	Weak transcription	Right Atrium	heart
11	chr11:3949200-3954200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr11:3949400-3959400	Weak transcription	Fetal Lung	lung
13	chr11:3950000-3957600	Weak transcription	GM12878-XiMat	blood
14	chr11:3950400-3972200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr11:3950800-3956200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr11:3951000-3954600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr11:3951000-3955600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr11:3951000-3957400	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr11:3951000-3960600	Weak transcription	Stomach Mucosa	stomach
20	chr11:3951200-3954800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr11:3951200-3965400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr11:3951200-3967600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr11:3951400-3954000	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr11:3951400-3955000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr11:3951400-3955600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr11:3951400-3955800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:3951400-3955800	Weak transcription	Fetal Stomach	stomach
28	chr11:3951400-3956000	Weak transcription	Aorta	Aorta
29	chr11:3951400-3956000	Weak transcription	Gastric	stomach
30	chr11:3951400-3956400	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr11:3951400-3959000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr11:3951400-3959200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr11:3951400-3959800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr11:3951400-3961400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr11:3951400-3963400	Weak transcription	A549	lung
36	chr11:3951400-3963600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr11:3951600-3954000	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr11:3951600-3954800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr11:3951600-3955400	Weak transcription	Right Ventricle	heart
40	chr11:3951600-3959800	Weak transcription	Adipose Nuclei	Adipose
41	chr11:3951600-3963400	Weak transcription	Brain Hippocampus Middle	brain
42	chr11:3951800-3954200	Weak transcription	K562	blood
43	chr11:3951800-3956000	Weak transcription	Left Ventricle	heart
44	chr11:3951800-3959600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr11:3952000-3955400	Weak transcription	Colon Smooth Muscle	Colon
46	chr11:3952000-3955600	Weak transcription	Rectal Smooth Muscle	rectum
47	chr11:3952000-3963400	Weak transcription	Pancreas	Pancrea
48	chr11:3952200-3954400	Weak transcription	Liver	Liver
49	chr11:3952200-3955000	Weak transcription	Primary B cells from peripheral blood	blood
50	chr11:3952200-3961000	Weak transcription	Fetal Muscle Leg	muscle

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