Variant report

Variant	rs11227217
Chromosome Location	chr11:65307402-65307403
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65306570..65308318-chr11:65381821..65384190,3	K562	blood:
2	chr11:65307335..65308296-chr17:73775501..73776065,2	HCT-116	colon:
3	chr11:65307252..65310035-chr11:65625535..65628177,3	K562	blood:
4	chr11:65306856..65307488-chr17:73150357..73151051,2	Hela-S3	cervix:
5	chr11:65187744..65191441-chr11:65307194..65309813,3	MCF-7	breast:
6	chr11:65306479..65309303-chr5:10247983..10249958,2	MCF-7	breast:
7	chr11:65262833..65264423-chr11:65305627..65307751,2	K562	blood:
8	chr11:65263261..65267812-chr11:65306192..65309215,4	MCF-7	breast:
9	chr11:65183635..65190622-chr11:65305653..65310980,8	MCF-7	breast:
10	chr11:65307310..65307872-chr11:65360978..65361533,2	MCF-7	breast:
11	chr11:65266245..65270118-chr11:65305867..65309860,5	MCF-7	breast:
12	chr11:65307312..65308926-chr11:65339023..65340083,15	MCF-7	breast:
13	chr11:65189854..65192035-chr11:65305464..65309123,3	K562	blood:
14	chr11:65306623..65309907-chr11:65380382..65384254,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000132475	Chromatin interaction
ENSG00000173338	Chromatin interaction
ENSG00000245532	Chromatin interaction
ENSG00000176973	Chromatin interaction
ENSG00000189159	Chromatin interaction
ENSG00000270117	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000251562	Chromatin interaction
ENSG00000248968	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000173327	Chromatin interaction
ENSG00000197136	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1144928	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1783541	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2846139	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58621819	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7931311	0.82[AMR][1000 genomes]
rs947791	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897715	chr11:65083491-65427346	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' 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	984 gene(s)	inside rSNPs	diseases
2	nsv897716	chr11:65083491-65481166	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS 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	999 gene(s)	inside rSNPs	diseases
3	esv1829999	chr11:65136686-65343124	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	963 gene(s)	inside rSNPs	diseases
4	nsv897718	chr11:65140209-65577516	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer 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	1003 gene(s)	inside rSNPs	diseases
5	nsv541067	chr11:65142779-65313799	Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	950 gene(s)	inside rSNPs	diseases
6	nsv541068	chr11:65142779-65331136	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	953 gene(s)	inside rSNPs	diseases
7	nsv541069	chr11:65142779-65368787	Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	965 gene(s)	inside rSNPs	diseases
8	nsv541070	chr11:65142779-65397058	Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	972 gene(s)	inside rSNPs	diseases
9	nsv541071	chr11:65142779-65429352	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
10	nsv897719	chr11:65157094-65335705	Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	949 gene(s)	inside rSNPs	diseases
11	nsv541072	chr11:65171202-65313799	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers 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	946 gene(s)	inside rSNPs	diseases
12	nsv541073	chr11:65171202-65331136	Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	949 gene(s)	inside rSNPs	diseases
13	nsv541074	chr11:65171202-65368787	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	961 gene(s)	inside rSNPs	diseases
14	nsv541075	chr11:65210592-65331136	Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	620 gene(s)	inside rSNPs	diseases
15	nsv541076	chr11:65210592-65397058	Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	645 gene(s)	inside rSNPs	diseases
16	nsv897720	chr11:65213434-65445950	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	665 gene(s)	inside rSNPs	diseases
17	nsv897721	chr11:65278461-65422853	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
18	nsv897722	chr11:65278461-65436888	Genic enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
19	nsv897723	chr11:65294830-65481166	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
20	nsv897724	chr11:65300252-65309514	Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
21	nsv897725	chr11:65300252-65311405	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
22	nsv897726	chr11:65300252-65318871	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases
23	nsv555212	chr11:65302893-65307856	Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
24	nsv897727	chr11:65302893-65311405	Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
25	nsv897728	chr11:65302893-65318871	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases
26	nsv897729	chr11:65302893-65322548	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases
27	nsv897730	chr11:65302893-65376484	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS 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 target site	58 gene(s)	inside rSNPs	diseases
28	esv3413523	chr11:65302976-65308274	Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
29	nsv897731	chr11:65304592-65318871	Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
30	esv3411132	chr11:65305401-65308149	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65293600-65307600	Weak transcription	Small Intestine	intestine
2	chr11:65297400-65311200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:65300200-65307600	Weak transcription	Fetal Kidney	kidney
4	chr11:65300200-65307600	Weak transcription	K562	blood
5	chr11:65300600-65307600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr11:65301200-65307800	Weak transcription	HSMMtube	muscle
7	chr11:65302000-65309600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr11:65304200-65307800	Weak transcription	Fetal Lung	lung
9	chr11:65304200-65307800	Weak transcription	HSMM	muscle
10	chr11:65304200-65307800	Weak transcription	NH-A	brain
11	chr11:65304600-65311800	Weak transcription	HepG2	liver
12	chr11:65304800-65307600	Weak transcription	Brain Angular Gyrus	brain
13	chr11:65305000-65307600	Weak transcription	Ovary	ovary
14	chr11:65305200-65309200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:65306200-65307600	Bivalent Enhancer	Fetal Brain Male	brain
16	chr11:65306200-65308600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
17	chr11:65306200-65308600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
18	chr11:65306200-65308600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
19	chr11:65306200-65308800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
20	chr11:65306400-65307600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:65306400-65307600	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr11:65306400-65307600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr11:65306400-65307800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr11:65306400-65307800	Weak transcription	Brain Substantia Nigra	brain
25	chr11:65306400-65308200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
26	chr11:65306400-65308400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr11:65306400-65308600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
28	chr11:65306400-65308600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
29	chr11:65306400-65308800	Active TSS	H9 Cell Line	embryonic stem cell
30	chr11:65306400-65308800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
31	chr11:65306600-65307600	Weak transcription	Aorta	Aorta
32	chr11:65306600-65307600	Weak transcription	Brain Anterior Caudate	brain
33	chr11:65306600-65307800	Enhancers	Fetal Heart	heart
34	chr11:65306600-65308600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr11:65306800-65307600	Enhancers	Primary T cells fromperipheralblood	blood
36	chr11:65306800-65307600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr11:65307000-65307600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr11:65307000-65307600	Enhancers	Primary hematopoietic stem cells	blood
39	chr11:65307000-65307600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr11:65307000-65307600	Enhancers	Liver	Liver
41	chr11:65307000-65307600	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
42	chr11:65307000-65307600	Enhancers	Fetal Muscle Trunk	muscle
43	chr11:65307000-65307600	Enhancers	Fetal Thymus	thymus
44	chr11:65307000-65307600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
45	chr11:65307000-65307600	Strong transcription	A549	lung
46	chr11:65307000-65308000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr11:65307000-65308000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr11:65307000-65308200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
49	chr11:65307000-65308800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr11:65307000-65309600	Flanking Active TSS	HMEC	breast

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