Variant report

Variant	rs2742482
Chromosome Location	chr11:8991942-8991943
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:8985985..8989879-chr11:8990022..8995135,9	K562	blood:
2	chr11:8991559..8993834-chr11:9003227..9005288,2	MCF-7	breast:
3	chr11:8989184..8992438-chr11:8993740..8997240,3	MCF-7	breast:
4	chr11:8984840..8989436-chr11:8990874..8994927,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254860	Chromatin interaction
ENSG00000175348	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10769982	1.00[AMR][1000 genomes]
rs10840149	1.00[EUR][1000 genomes]
rs10840152	0.89[AMR][1000 genomes]
rs11042155	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1989143	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2195812	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2256067	1.00[EUR][1000 genomes]
rs2262323	1.00[EUR][1000 genomes]
rs2436178	1.00[EUR][1000 genomes]
rs2568021	1.00[EUR][1000 genomes]
rs2568023	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2568024	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2568026	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2568027	1.00[EUR][1000 genomes]
rs2568030	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2568041	1.00[EUR][1000 genomes]
rs2568046	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2568055	1.00[EUR][1000 genomes]
rs2568058	1.00[EUR][1000 genomes]
rs2568060	1.00[EUR][1000 genomes]
rs2568063	1.00[EUR][1000 genomes]
rs2568072	1.00[EUR][1000 genomes]
rs2568083	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2653561	1.00[EUR][1000 genomes]
rs2653563	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2653571	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2653579	0.89[AMR][1000 genomes]
rs2653583	1.00[EUR][1000 genomes]
rs2653584	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2653585	1.00[EUR][1000 genomes]
rs2653592	0.91[AFR][1000 genomes]
rs2653600	1.00[EUR][1000 genomes]
rs2653608	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2653614	1.00[EUR][1000 genomes]
rs2653615	1.00[EUR][1000 genomes]
rs2742469	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2742479	1.00[EUR][1000 genomes]
rs2742507	1.00[EUR][1000 genomes]
rs2742508	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2742518	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2742526	1.00[EUR][1000 genomes]
rs2742527	1.00[EUR][1000 genomes]
rs2742539	1.00[EUR][1000 genomes]
rs2742543	1.00[EUR][1000 genomes]
rs2742551	1.00[EUR][1000 genomes]
rs6416158	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6416159	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7104415	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73410028	1.00[EUR][1000 genomes]
rs73410031	1.00[EUR][1000 genomes]
rs73410040	1.00[EUR][1000 genomes]
rs7395934	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7396042	1.00[EUR][1000 genomes]
rs7396427	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7479998	1.00[EUR][1000 genomes]
rs7932678	1.00[EUR][1000 genomes]
rs7936297	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7950826	1.00[AMR][1000 genomes];1.00[EUR][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	esv2758256	chr11:8784813-9009573	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv2759803	chr11:8784813-9009573	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv435923	chr11:8839325-9000602	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv832062	chr11:8849295-9009472	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv896984	chr11:8988550-9090408	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8986800-8993600	Weak transcription	Aorta	Aorta
2	chr11:8986800-8994400	Weak transcription	Ovary	ovary
3	chr11:8986800-8995000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr11:8986800-8996600	Weak transcription	Spleen	Spleen
5	chr11:8987000-8992400	Weak transcription	Esophagus	oesophagus
6	chr11:8987000-8993600	Weak transcription	Left Ventricle	heart
7	chr11:8987000-8994200	Weak transcription	Psoas Muscle	Psoas
8	chr11:8987000-8994800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr11:8987000-8995000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr11:8987000-9007200	Weak transcription	Brain Germinal Matrix	brain
11	chr11:8987000-9007200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr11:8987000-9010200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:8987000-9011000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr11:8987200-8993800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr11:8987400-8992800	Weak transcription	Primary B cells from cord blood	blood
16	chr11:8987600-8992000	Weak transcription	Fetal Kidney	kidney
17	chr11:8987600-8992200	Weak transcription	Brain Hippocampus Middle	brain
18	chr11:8987600-8993400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr11:8987600-9005000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr11:8987600-9006400	Weak transcription	Colon Smooth Muscle	Colon
21	chr11:8987600-9010000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:8987600-9010000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr11:8987800-8993200	Weak transcription	Liver	Liver
24	chr11:8987800-8993200	Weak transcription	Right Ventricle	heart
25	chr11:8987800-8994400	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr11:8987800-8994400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr11:8987800-8999000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:8987800-9005000	Weak transcription	Brain Angular Gyrus	brain
29	chr11:8987800-9010200	Weak transcription	NHDF-Ad	bronchial
30	chr11:8987800-9012000	Weak transcription	Stomach Smooth Muscle	stomach
31	chr11:8988600-8992800	Weak transcription	K562	blood
32	chr11:8989200-8999000	Weak transcription	Fetal Intestine Small	intestine
33	chr11:8989600-8994600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr11:8989600-8997000	Weak transcription	Primary hematopoietic stem cells	blood
35	chr11:8989600-8997400	Weak transcription	Primary T cells from cord blood	blood
36	chr11:8989600-9001400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr11:8989600-9002400	Weak transcription	Fetal Muscle Trunk	muscle
38	chr11:8989600-9003400	Weak transcription	Fetal Stomach	stomach
39	chr11:8989600-9010000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:8989600-9011200	Weak transcription	Brain Anterior Caudate	brain
41	chr11:8989600-9019600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr11:8990800-8992400	Strong transcription	Placenta	Placenta
43	chr11:8991400-8992000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr11:8991800-9015600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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