Variant report

Variant	rs12272798
Chromosome Location	chr11:67251035-67251036
allele	C/T
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:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:67250774..67252740-chr11:67267582..67269484,2	MCF-7	breast:
2	chr11:67249912..67253635-chr11:67270546..67273534,5	K562	blood:
3	chr11:67230145..67233819-chr11:67248914..67252066,4	K562	blood:
4	chr11:67158455..67160000-chr11:67249177..67251202,2	MCF-7	breast:
5	chr11:67222200..67224356-chr11:67249381..67251101,2	MCF-7	breast:
6	chr11:67230622..67232854-chr11:67248914..67251189,3	MCF-7	breast:
7	chr11:67250656..67253599-chr11:67256113..67260551,5	K562	blood:
8	chr11:67231198..67233116-chr11:67249356..67252066,3	K562	blood:
9	chr11:67138872..67142169-chr11:67249496..67254071,4	MCF-7	breast:
10	chr11:67204772..67206774-chr11:67250564..67253520,2	K562	blood:
11	chr11:67187290..67189722-chr11:67250373..67251986,2	K562	blood:
12	chr11:67171679..67173695-chr11:67249098..67251684,2	MCF-7	breast:
13	chr11:67168541..67170644-chr11:67250058..67251865,2	MCF-7	breast:
14	chr11:67121864..67124508-chr11:67250272..67251792,2	K562	blood:
15	chr11:67247191..67252288-chr11:67270350..67277699,12	MCF-7	breast:
16	chr11:67167204..67171216-chr11:67247088..67251861,5	K562	blood:
17	chr11:67234942..67238660-chr11:67246245..67252394,7	MCF-7	breast:
18	chr11:67250658..67253558-chr11:67351233..67353250,2	K562	blood:
19	chr11:67176577..67178931-chr11:67250966..67253943,2	MCF-7	breast:
20	chr11:67174480..67177168-chr11:67249396..67252040,3	MCF-7	breast:
21	chr11:67250117..67252279-chr11:67255664..67259072,3	MCF-7	breast:
22	chr11:67250506..67252570-chr11:67374037..67375559,2	K562	blood:
23	chr11:67167204..67172690-chr11:67247088..67251861,6	K562	blood:
24	chr11:67235776..67238484-chr11:67248509..67251813,3	K562	blood:
25	chr11:67249454..67253550-chr11:67271231..67274487,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000172508	Chromatin interaction
ENSG00000167797	Chromatin interaction
ENSG00000175463	Chromatin interaction
ENSG00000175544	Chromatin interaction
ENSG00000084207	Chromatin interaction
ENSG00000172663	Chromatin interaction
ENSG00000213402	Chromatin interaction
ENSG00000256514	Chromatin interaction
ENSG00000110711	Chromatin interaction
ENSG00000167792	Chromatin interaction
ENSG00000172531	Chromatin interaction
ENSG00000172613	Chromatin interaction
ENSG00000110697	Chromatin interaction
ENSG00000184224	Chromatin interaction
ENSG00000175505	Chromatin interaction
ENSG00000175482	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11227873	1.00[MEX][hapmap]
rs11548606	1.00[AMR][1000 genomes]
rs2514034	1.00[MEX][hapmap]
rs7101647	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
3	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
4	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats 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	236 gene(s)	inside rSNPs	diseases
5	nsv1048230	chr11:67058231-67252397	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
6	nsv1039205	chr11:67135246-67252397	Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
7	esv1818769	chr11:67138811-67300457	Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
8	esv1798859	chr11:67139954-67272983	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
9	nsv897805	chr11:67155210-67283891	ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
10	nsv897806	chr11:67155210-67294308	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
11	nsv897807	chr11:67155210-67414492	Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
12	nsv897808	chr11:67155210-67419855	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
13	nsv897809	chr11:67156875-67276235	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
14	nsv555254	chr11:67164495-67288594	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
15	nsv534229	chr11:67164667-67411909	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
16	nsv897813	chr11:67175692-67283891	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription 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	132 gene(s)	inside rSNPs	diseases
17	nsv521723	chr11:67175692-67311258	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription 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	132 gene(s)	inside rSNPs	diseases
18	nsv468604	chr11:67186000-67283891	Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
19	nsv555256	chr11:67186000-67283891	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
20	nsv527056	chr11:67207426-67294308	Genic enhancers Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	115 gene(s)	inside rSNPs	diseases
21	nsv983155	chr11:67220251-67251432	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
22	esv2422195	chr11:67234322-67626901	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
23	nsv1067892	chr11:67249418-67255234	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67249800-67251200	Active TSS	Brain Germinal Matrix	brain
2	chr11:67249800-67251400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr11:67249800-67251400	Active TSS	A549	lung
4	chr11:67249800-67251400	Active TSS	HSMM	muscle
5	chr11:67249800-67251600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:67249800-67251600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr11:67250000-67251200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:67250000-67251200	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr11:67250000-67251200	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr11:67250000-67251200	Active TSS	Aorta	Aorta
11	chr11:67250000-67251200	Active TSS	Thymus	Thymus
12	chr11:67250000-67251400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:67250000-67251400	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr11:67250000-67251400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
15	chr11:67250000-67251400	Active TSS	Fetal Kidney	kidney
16	chr11:67250200-67251200	Active TSS	H9 Cell Line	embryonic stem cell
17	chr11:67250200-67251200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr11:67250200-67251200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:67250200-67251200	Active TSS	Small Intestine	intestine
20	chr11:67250400-67253000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
21	chr11:67250600-67251200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:67250600-67251200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr11:67250600-67251200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
24	chr11:67250600-67251200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr11:67250600-67251200	Flanking Active TSS	Placenta	Placenta
26	chr11:67250600-67251200	Flanking Active TSS	Pancreas	Pancrea
27	chr11:67250600-67251200	Flanking Active TSS	HMEC	breast
28	chr11:67250600-67251400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr11:67250600-67251400	Flanking Active TSS	Liver	Liver
30	chr11:67250600-67251400	Flanking Active TSS	Fetal Muscle Trunk	muscle
31	chr11:67250600-67251400	Flanking Active TSS	Placenta Amnion	Placenta Amnion
32	chr11:67250600-67251600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr11:67250600-67251600	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr11:67250600-67251600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
35	chr11:67250600-67251600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr11:67250600-67251600	Flanking Active TSS	HepG2	liver
37	chr11:67250600-67251800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr11:67250600-67251800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr11:67250600-67252000	Flanking Active TSS	Fetal Thymus	thymus
40	chr11:67250600-67252000	Flanking Active TSS	K562	blood
41	chr11:67250600-67252200	Flanking Active TSS	Dnd41	blood
42	chr11:67250600-67252600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr11:67250600-67252600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr11:67250600-67252600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
45	chr11:67250600-67252600	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr11:67250600-67252800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
47	chr11:67250600-67253000	Flanking Active TSS	Primary B cells from cord blood	blood
48	chr11:67250600-67253000	Flanking Active TSS	Primary B cells from peripheral blood	blood
49	chr11:67250600-67253000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
50	chr11:67250600-67253000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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