Variant report

Variant	rs73494422
Chromosome Location	chr11:65662002-65662003
allele	A/G
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:65661660..65664635-chr11:65790065..65792086,2	K562	blood:
2	chr11:65650579..65663306-chr11:65677153..65690311,39	MCF-7	breast:
3	chr11:65473150..65475653-chr11:65659973..65662538,2	K562	blood:
4	chr11:65541575..65543140-chr11:65661807..65663676,2	K562	blood:
5	chr11:65564975..65566477-chr11:65661433..65663002,2	K562	blood:
6	chr11:65537505..65539315-chr11:65661843..65663867,2	MCF-7	breast:
7	chr11:65472457..65475716-chr11:65659486..65662901,4	K562	blood:
8	chr11:64509223..64512126-chr11:65661954..65663646,2	K562	blood:
9	chr11:65661368..65662904-chr11:65817968..65820375,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000087365	Chromatin interaction
ENSG00000175550	Chromatin interaction
ENSG00000175573	Chromatin interaction
ENSG00000068831	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2231891	1.00[AMR][1000 genomes]
rs2234467	1.00[AMR][1000 genomes]
rs34255955	1.00[AMR][1000 genomes]
rs34359217	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35496887	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73494420	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
3	esv2758274	chr11:65559893-65722363	Genic enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
4	esv2759834	chr11:65559893-65722363	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS 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 lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv427890	chr11:65559893-65722363	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Genic enhancers 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 target site	178 gene(s)	inside rSNPs	diseases
6	nsv897761	chr11:65580638-65738566	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases
7	nsv555215	chr11:65581579-65676516	Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
8	nsv897762	chr11:65613218-65758854	Active TSS Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	185 gene(s)	inside rSNPs	diseases
9	nsv897764	chr11:65613348-65695222	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
10	nsv897765	chr11:65623708-65758854	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
11	nsv832191	chr11:65632329-65806120	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65655000-65662200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr11:65656200-65662200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr11:65658600-65662200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr11:65659000-65662200	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
5	chr11:65659000-65662200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:65659000-65662200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:65659200-65662200	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
8	chr11:65659800-65665800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr11:65659800-65665800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr11:65660200-65662200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:65660200-65662200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr11:65660200-65662800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr11:65660200-65665800	Genic enhancers	K562	blood
14	chr11:65660600-65666600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:65660600-65666600	Weak transcription	Pancreas	Pancrea
16	chr11:65660800-65662200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr11:65660800-65663000	Genic enhancers	Osteobl	bone
18	chr11:65661200-65662200	Flanking Active TSS	GM12878-XiMat	blood
19	chr11:65661200-65663200	Weak transcription	Psoas Muscle	Psoas
20	chr11:65661200-65666600	Weak transcription	Small Intestine	intestine
21	chr11:65661400-65666400	Weak transcription	Stomach Mucosa	stomach
22	chr11:65661600-65663000	Genic enhancers	NHEK	skin
23	chr11:65661600-65663800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr11:65661800-65662200	Enhancers	Primary B cells from peripheral blood	blood
25	chr11:65661800-65662200	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr11:65661800-65662200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr11:65661800-65662200	Enhancers	Fetal Thymus	thymus
28	chr11:65661800-65662400	Enhancers	Primary T cells fromperipheralblood	blood
29	chr11:65661800-65662400	Enhancers	Fetal Muscle Trunk	muscle
30	chr11:65661800-65662800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr11:65661800-65663000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr11:65661800-65663000	Weak transcription	HepG2	liver
33	chr11:65661800-65663200	Genic enhancers	HMEC	breast
34	chr11:65661800-65663600	Weak transcription	Lung	lung
35	chr11:65661800-65664800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr11:65661800-65666600	Weak transcription	Right Atrium	heart
37	chr11:65662000-65662200	Enhancers	Primary B cells from cord blood	blood
38	chr11:65662000-65662200	Enhancers	Primary T cells from cord blood	blood
39	chr11:65662000-65662200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr11:65662000-65662200	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr11:65662000-65662200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr11:65662000-65662200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr11:65662000-65662200	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr11:65662000-65662200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr11:65662000-65662200	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr11:65662000-65662200	Enhancers	Duodenum Mucosa	Duodenum
47	chr11:65662000-65662200	Strong transcription	NHLF	lung
48	chr11:65662000-65662400	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr11:65662000-65662400	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr11:65662000-65662400	Enhancers	Primary hematopoietic stem cells	blood

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