Variant report

Variant	rs11039507
Chromosome Location	chr11:48081659-48081660
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:48072810..48075370-chr11:48080373..48082997,2	K562	blood:
2	chr11:48075993..48078690-chr11:48080770..48083090,2	MCF-7	breast:
3	chr11:48072741..48074310-chr11:48080242..48082997,2	K562	blood:
4	chr11:48077913..48080280-chr11:48080886..48083753,2	K562	blood:
5	chr11:48080961..48082777-chr11:48083891..48085697,2	MCF-7	breast:
6	chr11:48081533..48083185-chr11:48091579..48093994,2	MCF-7	breast:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11039489	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs11039492	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs11039506	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11039549	1.00[YRI][hapmap]
rs11039554	1.00[YRI][hapmap]
rs11822835	1.00[AMR][1000 genomes]
rs11825374	1.00[AMR][1000 genomes]
rs12272622	1.00[AMR][1000 genomes]
rs12275069	0.88[YRI][hapmap]
rs12275893	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12279082	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1228003	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1228011	1.00[AMR][1000 genomes]
rs1228016	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1228027	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1228029	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1228037	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1228045	1.00[AMR][1000 genomes]
rs1228051	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs12282960	0.88[YRI][hapmap]
rs12288995	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12290640	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs12293503	0.87[YRI][hapmap]
rs12294321	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12294477	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12295345	0.88[YRI][hapmap]
rs1681606	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1681638	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2697809	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2930185	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2930187	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2950886	0.87[AFR][1000 genomes]
rs2950889	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4387319	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7102191	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7941419	1.00[AMR][1000 genomes]
rs900700	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs922959	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052397	chr11:47675470-48594256	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv530620	chr11:47765455-48664555	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/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
3	nsv1036992	chr11:47794621-48666024	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv1036451	chr11:47902321-48616646	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS 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	26 gene(s)	inside rSNPs	diseases
5	nsv541037	chr11:47902321-48616646	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS 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 miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv1047490	chr11:47916708-48388686	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1044266	chr11:47929586-48276132	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers 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 miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv541038	chr11:47929586-48276132	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv1053145	chr11:47967902-48086950	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv870381	chr11:47989434-48142648	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
11	esv3396029	chr11:47993857-48241494	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Active TSS 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	6 gene(s)	inside rSNPs	diseases
12	nsv897327	chr11:48004369-48911660	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
13	nsv869124	chr11:48014539-48783113	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
14	nsv1051805	chr11:48016488-48378048	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
15	nsv428573	chr11:48032457-48152344	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
16	nsv897328	chr11:48043053-48901553	Strong transcription Enhancers Genic enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
17	nsv897329	chr11:48052676-48319974	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
18	nsv1048554	chr11:48062861-48388686	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
19	nsv1038210	chr11:48068862-48388686	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
20	nsv1052076	chr11:48077864-48702549	ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:48070800-48083400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr11:48074600-48081800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr11:48074600-48082400	Weak transcription	Hela-S3	cervix
4	chr11:48074600-48084200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr11:48074600-48085000	Weak transcription	Left Ventricle	heart
6	chr11:48077400-48082400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:48077400-48083000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr11:48077400-48085000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr11:48077400-48085200	Weak transcription	Adipose Nuclei	Adipose
10	chr11:48077400-48088600	Weak transcription	Right Atrium	heart
11	chr11:48077600-48082400	Weak transcription	Placenta	Placenta
12	chr11:48077600-48082800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:48077600-48082800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr11:48077600-48083000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:48077600-48084400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr11:48077800-48082800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:48077800-48082800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:48077800-48082800	Genic enhancers	A549	lung
19	chr11:48077800-48082800	Weak transcription	NHLF	lung
20	chr11:48077800-48083800	Weak transcription	HSMM	muscle
21	chr11:48077800-48085600	Weak transcription	Fetal Intestine Large	intestine
22	chr11:48077800-48088800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:48078000-48081800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr11:48078000-48082400	Weak transcription	Brain Substantia Nigra	brain
25	chr11:48078000-48082800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr11:48078000-48082800	Weak transcription	Osteobl	bone
27	chr11:48078000-48083000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr11:48078000-48083000	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr11:48078000-48084200	Weak transcription	NHEK	skin
30	chr11:48078000-48086000	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr11:48078200-48082200	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr11:48078200-48083600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr11:48078200-48084200	Weak transcription	Fetal Kidney	kidney
34	chr11:48078200-48084200	Weak transcription	NH-A	brain
35	chr11:48078200-48085000	Weak transcription	Brain Anterior Caudate	brain
36	chr11:48078200-48085000	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr11:48078200-48090600	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr11:48078400-48082000	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr11:48078400-48083600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr11:48078600-48082000	Weak transcription	Thymus	Thymus
41	chr11:48078600-48082800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr11:48078600-48086400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr11:48078600-48088600	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr11:48078800-48084200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr11:48078800-48085600	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr11:48078800-48093000	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr11:48079000-48085200	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr11:48079200-48082400	Weak transcription	Brain Hippocampus Middle	brain
49	chr11:48079200-48083600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr11:48079200-48085800	Weak transcription	Rectal Mucosa Donor 29	rectum

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