Variant report

Variant	rs1784223
Chromosome Location	chr11:65380248-65380249
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:65380118-65382306	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr11:65380014-65384391	K562	blood:	n/a	n/a
3	POLR2A	chr11:65379608-65384450	HepG2	liver:	n/a	n/a
4	MAZ	chr11:65378522-65380333	IMR90	lung:	n/a	n/a
5	ZNF263	chr11:65380070-65380263	HEK293-T-REx	kidney:	n/a	chr11:65380138-65380159 chr11:65380140-65380149

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65336061..65346997-chr11:65371025..65390625,42	MCF-7	breast:
2	chr11:65335401..65344755-chr11:65379602..65385163,20	K562	blood:
3	chr11:65379507..65381898-chr11:65478593..65480836,3	MCF-7	breast:
4	chr11:65377447..65384699-chr11:65622853..65629192,15	MCF-7	breast:
5	chr11:65313091..65315677-chr11:65380016..65384543,4	K562	blood:
6	chr11:65379754..65386537-chr11:65415130..65425067,26	MCF-7	breast:
7	chr11:65362693..65364278-chr11:65379857..65381562,2	MCF-7	breast:
8	chr11:65186294..65191468-chr11:65379126..65384544,8	MCF-7	breast:
9	chr11:65379382..65381095-chr17:60730050..60732492,2	MCF-7	breast:

No data

Variant related genes	Relation type
MAP3K11	TF binding region
PCNXL3	TF binding region
ENSG00000176973	Chromatin interaction
ENSG00000245532	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000260233	Chromatin interaction
ENSG00000172977	Chromatin interaction
ENSG00000213445	Chromatin interaction
ENSG00000173442	Chromatin interaction
ENSG00000265874	Chromatin interaction
ENSG00000168056	Chromatin interaction
ENSG00000173338	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000173465	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10896027	0.81[EUR][1000 genomes]
rs10896043	0.85[CHB][hapmap]
rs11227249	0.82[EUR][1000 genomes]
rs11227250	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11227261	0.85[CHB][hapmap];0.85[CHD][hapmap];0.90[MEX][hapmap];0.87[TSI][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11227302	0.85[CHB][hapmap]
rs1151488	1.00[CHB][hapmap]
rs1193851	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1205259	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12281400	0.86[ASN][1000 genomes]
rs1787034	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2298615	0.85[CHB][hapmap]
rs2448490	0.90[MEX][hapmap];0.80[EUR][1000 genomes]
rs2509948	0.91[GIH][hapmap];0.89[MEX][hapmap]
rs3372	0.85[CHB][hapmap];0.85[CHD][hapmap];0.90[MEX][hapmap];0.82[TSI][hapmap]
rs34007146	0.86[ASN][1000 genomes]
rs34462081	0.81[EUR][1000 genomes]
rs4930156	0.91[GIH][hapmap];0.90[MEX][hapmap]
rs4930304	0.85[CHD][hapmap];0.88[MEX][hapmap];0.87[TSI][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs494003	0.85[CHB][hapmap]
rs58950470	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7122657	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7944860	1.00[CHB][hapmap];0.85[CHD][hapmap];0.91[GIH][hapmap];0.90[MEX][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 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	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	esv2761680	chr11:65344328-65391317	Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	46 gene(s)	inside rSNPs	diseases
25	nsv897746	chr11:65349756-65427346	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
26	nsv897747	chr11:65353906-65481166	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65376000-65380600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:65376600-65381000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr11:65376800-65380400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:65376800-65380400	Genic enhancers	Primary B cells from peripheral blood	blood
5	chr11:65376800-65380600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
6	chr11:65376800-65381800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr11:65377400-65380600	Genic enhancers	Placenta Amnion	Placenta Amnion
8	chr11:65377400-65381000	Flanking Active TSS	HUVEC	blood vessel
9	chr11:65377800-65380600	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
10	chr11:65378000-65380400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:65378000-65380600	Transcr. at gene 5' and 3'	Fetal Muscle Trunk	muscle
12	chr11:65378000-65380800	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
13	chr11:65378000-65380800	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
14	chr11:65378000-65381000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr11:65378000-65381200	Enhancers	Fetal Heart	heart
16	chr11:65378000-65381600	Enhancers	Fetal Brain Male	brain
17	chr11:65378000-65381800	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr11:65378200-65381000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr11:65378200-65381200	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr11:65378200-65381400	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
21	chr11:65378200-65382800	Active TSS	Right Atrium	heart
22	chr11:65378400-65380400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr11:65378400-65380400	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr11:65378400-65380800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:65378400-65380800	Transcr. at gene 5' and 3'	Fetal Adrenal Gland	Adrenal Gland
26	chr11:65378400-65380800	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
27	chr11:65378400-65380800	Transcr. at gene 5' and 3'	Spleen	Spleen
28	chr11:65378400-65381000	Flanking Active TSS	NH-A	brain
29	chr11:65378400-65384200	Active TSS	Psoas Muscle	Psoas
30	chr11:65378600-65380600	Enhancers	H1 Cell Line	embryonic stem cell
31	chr11:65378600-65380600	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
32	chr11:65378600-65380600	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
33	chr11:65378600-65380800	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr11:65378600-65381000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr11:65378600-65381200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr11:65378600-65381200	Flanking Active TSS	Liver	Liver
37	chr11:65378800-65380600	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
38	chr11:65378800-65380800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:65378800-65380800	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
40	chr11:65378800-65381000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr11:65378800-65381000	Flanking Active TSS	Brain Hippocampus Middle	brain
42	chr11:65378800-65381600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
43	chr11:65378800-65384000	Active TSS	H9 Cell Line	embryonic stem cell
44	chr11:65379000-65381200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr11:65379000-65384400	Active TSS	Fetal Kidney	kidney
46	chr11:65379200-65380400	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr11:65379200-65380400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr11:65379200-65380800	Transcr. at gene 5' and 3'	Thymus	Thymus
49	chr11:65379200-65381000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr11:65379400-65380400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood

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