Variant report

Variant	rs12272630
Chromosome Location	chr11:34461665-34461666
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:34452352..34457130-chr11:34458043..34461797,6	K562	blood:
2	chr11:34460543..34462916-chr11:34471363..34474184,2	K562	blood:
3	chr11:34460644..34463318-chr11:34487662..34489990,2	K562	blood:
4	chr11:34381323..34383067-chr11:34461460..34463066,2	K562	blood:

Variant related genes	Relation type
ENSG00000216708	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11032656	0.92[EUR][1000 genomes]
rs11032672	0.94[EUR][1000 genomes]
rs11032702	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1107573	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs12269988	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12273124	1.00[CEU][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12275712	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12285026	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12285064	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12288793	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12293745	0.88[CEU][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12295136	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs16925514	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs17883208	0.89[EUR][1000 genomes]
rs17884086	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57360584	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58817388	0.97[EUR][1000 genomes]
rs59468184	0.97[EUR][1000 genomes]
rs7114869	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs7121907	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7125892	0.88[CEU][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73436768	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7926613	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7941147	0.85[CEU][hapmap];0.85[YRI][hapmap]
rs9282626	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897205	chr11:34248229-34507213	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv897207	chr11:34253683-34621004	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv897208	chr11:34257064-34562247	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv897209	chr11:34309519-34548906	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh 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	19 gene(s)	inside rSNPs	diseases
5	nsv832114	chr11:34424428-34607851	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34458800-34463200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr11:34459600-34461800	Active TSS	A549	lung
3	chr11:34459600-34462000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr11:34459600-34462000	Active TSS	Fetal Kidney	kidney
5	chr11:34459800-34461800	Active TSS	HSMM	muscle
6	chr11:34460600-34463200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr11:34460800-34461800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
8	chr11:34460800-34461800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
9	chr11:34460800-34462000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr11:34460800-34462200	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr11:34461000-34461800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr11:34461000-34461800	Flanking Active TSS	Primary T cells from cord blood	blood
13	chr11:34461000-34461800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr11:34461000-34461800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
15	chr11:34461000-34461800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
16	chr11:34461000-34461800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
17	chr11:34461000-34461800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:34461000-34461800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr11:34461000-34461800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:34461000-34461800	Flanking Active TSS	Brain Cingulate Gyrus	brain
21	chr11:34461000-34461800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
22	chr11:34461000-34461800	Flanking Active TSS	Fetal Muscle Leg	muscle
23	chr11:34461000-34461800	Enhancers	Placenta Amnion	Placenta Amnion
24	chr11:34461000-34461800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
25	chr11:34461000-34461800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr11:34461000-34461800	Flanking Active TSS	HMEC	breast
27	chr11:34461000-34462000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr11:34461000-34462000	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr11:34461000-34462000	Flanking Active TSS	Liver	Liver
30	chr11:34461000-34462000	Flanking Active TSS	Brain Germinal Matrix	brain
31	chr11:34461000-34462000	Flanking Active TSS	Brain Substantia Nigra	brain
32	chr11:34461000-34462000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr11:34461000-34462000	Flanking Active TSS	Fetal Brain Male	brain
34	chr11:34461000-34462000	Flanking Active TSS	Fetal Heart	heart
35	chr11:34461000-34462000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr11:34461000-34462000	Flanking Active TSS	Dnd41	blood
37	chr11:34461000-34462000	Flanking Active TSS	Hela-S3	cervix
38	chr11:34461000-34462000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr11:34461000-34462000	Flanking Active TSS	Osteobl	bone
40	chr11:34461000-34463400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
41	chr11:34461200-34461800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr11:34461200-34461800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr11:34461200-34461800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr11:34461200-34461800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr11:34461200-34461800	Flanking Active TSS	Brain Anterior Caudate	brain
46	chr11:34461200-34461800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
47	chr11:34461200-34461800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
48	chr11:34461200-34461800	Flanking Active TSS	Right Ventricle	heart
49	chr11:34461200-34461800	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr11:34461200-34461800	Flanking Active TSS	NHEK	skin

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