Variant report

Variant	rs2236684
Chromosome Location	chr11:65338944-65338945
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:65338759-65339154	K562	blood:	n/a	n/a
2	MXI1	chr11:65338853-65345385	IMR90	lung:	n/a	chr11:65342308-65342323 chr11:65339691-65339700
3	MAX	chr11:65338727-65339227	K562	blood:	n/a	n/a
4	POLR2A	chr11:65338780-65338970	HepG2	liver:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65336849..65339116-chr11:65404161..65406035,2	K562	blood:
2	chr11:65185945..65193560-chr11:65336627..65344485,19	K562	blood:
3	chr11:65336349..65338989-chr11:65428353..65432348,4	MCF-7	breast:
4	chr11:65153863..65156638-chr11:65338515..65340857,2	MCF-7	breast:
5	chr11:65182317..65198249-chr11:65333937..65346467,45	MCF-7	breast:
6	chr11:65335401..65344755-chr11:65379602..65385163,20	K562	blood:
7	chr11:65262109..65269742-chr11:65336183..65344125,16	MCF-7	breast:
8	chr11:65263786..65274103-chr11:65335962..65346813,28	MCF-7	breast:
9	chr11:65109918..65112567-chr11:65337864..65339971,2	K562	blood:
10	chr11:65263724..65269268-chr11:65338505..65344270,10	K562	blood:
11	chr11:65336222..65339291-chr11:65623626..65626992,4	K562	blood:
12	chr11:65336061..65346997-chr11:65371025..65390625,42	MCF-7	breast:
13	chr11:65160499..65162253-chr11:65337171..65339326,2	K562	blood:

No data

Variant related genes	Relation type
SSSCA1-AS1	TF binding region
FAM89B	TF binding region
EHBP1L1	TF binding region
ENSG00000173327	Chromatin interaction
ENSG00000245532	Chromatin interaction
ENSG00000173039	Chromatin interaction
ENSG00000126391	Chromatin interaction
ENSG00000213445	Chromatin interaction
ENSG00000133884	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000197136	Chromatin interaction
ENSG00000251562	Chromatin interaction
ENSG00000270117	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10896017	0.95[ASN][1000 genomes]
rs11227223	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11227226	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11227227	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1144927	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12224858	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4099470	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs602922	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs619586	0.82[CHB][hapmap]
rs648578	0.83[CHB][hapmap]
rs664589	0.83[CHB][hapmap]

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	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	nsv468599	chr11:65335705-65427346	ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
16	nsv555213	chr11:65335705-65427346	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
17	nsv897732	chr11:65335705-65427346	Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Active 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	78 gene(s)	inside rSNPs	diseases
18	nsv468600	chr11:65335705-65431360	Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
19	nsv555214	chr11:65335705-65431360	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
20	nsv897733	chr11:65335705-65431360	Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Weak transcription 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	92 gene(s)	inside rSNPs	diseases
21	nsv897734	chr11:65335705-65436888	Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
22	nsv897735	chr11:65335705-65481166	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
23	nsv897736	chr11:65335705-65676516	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic 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	227 gene(s)	inside rSNPs	diseases
24	nsv897737	chr11:65337714-65361765	Weak transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
25	nsv897738	chr11:65337714-65380248	Genic enhancers Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
26	nsv897739	chr11:65337714-65388300	Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
27	nsv897740	chr11:65338589-65371604	Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
28	nsv897741	chr11:65338589-65376484	Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
29	nsv897742	chr11:65338589-65380248	Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
30	nsv897743	chr11:65338589-65382564	Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65336600-65339800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
2	chr11:65336600-65340800	Active TSS	H9 Cell Line	embryonic stem cell
3	chr11:65337000-65339000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:65337000-65339000	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr11:65337000-65339000	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr11:65337000-65340400	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr11:65337200-65339200	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr11:65337800-65340000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr11:65338000-65339000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr11:65338000-65339800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:65338000-65339800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr11:65338000-65339800	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr11:65338000-65339800	Flanking Active TSS	Colonic Mucosa	Colon
14	chr11:65338000-65339800	Flanking Active TSS	Stomach Smooth Muscle	stomach
15	chr11:65338000-65340000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
16	chr11:65338000-65340000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr11:65338000-65340000	Flanking Active TSS	Primary B cells from cord blood	blood
18	chr11:65338000-65340000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr11:65338000-65340000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr11:65338000-65341600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr11:65338000-65345600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:65338200-65339000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:65338200-65339000	Flanking Active TSS	Fetal Lung	lung
24	chr11:65338200-65339200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
25	chr11:65338200-65339600	Flanking Active TSS	Brain Germinal Matrix	brain
26	chr11:65338200-65339800	Flanking Active TSS	Primary T cells from cord blood	blood
27	chr11:65338200-65339800	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr11:65338200-65339800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
29	chr11:65338200-65339800	Flanking Active TSS	Brain Angular Gyrus	brain
30	chr11:65338200-65339800	Flanking Active TSS	Brain Cingulate Gyrus	brain
31	chr11:65338200-65339800	Flanking Active TSS	Brain Hippocampus Middle	brain
32	chr11:65338200-65339800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr11:65338200-65339800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr11:65338200-65339800	Flanking Active TSS	Fetal Muscle Trunk	muscle
35	chr11:65338200-65339800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
36	chr11:65338200-65340000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr11:65338200-65340000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr11:65338200-65340000	Flanking Active TSS	Liver	Liver
39	chr11:65338200-65340000	Flanking Active TSS	Fetal Thymus	thymus
40	chr11:65338200-65340000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr11:65338400-65339000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr11:65338400-65339000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr11:65338400-65339000	Flanking Active TSS	Fetal Intestine Large	intestine
44	chr11:65338400-65339200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr11:65338400-65339600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr11:65338400-65339600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr11:65338400-65339600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr11:65338400-65339600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr11:65338400-65339600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
50	chr11:65338400-65339600	Flanking Active TSS	Fetal Brain Female	brain

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