Variant report

Variant	rs1783523
Chromosome Location	chr11:64551443-64551444
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	11:64544826-64559210..11:64658316-64660295	GM12878	blood:
2	chr11:64548398..64551598-chr11:64553767..64558292,4	K562	blood:
3	chr11:64544649..64548185-chr11:64548246..64551443,5	K562	blood:
4	chr11:64549169..64551642-chr11:64554588..64557105,4	MCF-7	breast:
5	chr11:64550123..64552250-chr11:64566649..64568263,2	K562	blood:
6	chr11:64546739..64549569-chr11:64549814..64552601,2	MCF-7	breast:
7	chr11:64550295..64559770-chr11:64606799..64612778,15	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168066	Chromatin interaction
ENSG00000207648	Chromatin interaction
ENSG00000168067	Chromatin interaction
ENSG00000267804	Chromatin interaction
ENSG00000171219	Chromatin interaction
ENSG00000269038	Chromatin interaction
ENSG00000229719	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12272531	1.00[AMR][1000 genomes]
rs484886	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs505985	0.81[YRI][hapmap]
rs523964	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs534221	0.88[YRI][hapmap]
rs556356	0.88[YRI][hapmap]
rs561158	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs575375	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs577879	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897694	chr11:64334114-64584959	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv528506	chr11:64345448-64701030	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
3	nsv555196	chr11:64357072-64559898	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
4	nsv897695	chr11:64357072-64701030	Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
5	nsv555198	chr11:64373899-64573589	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
6	nsv897697	chr11:64447420-64584959	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
7	nsv897698	chr11:64447420-64621573	Active TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
8	nsv897699	chr11:64447420-64638041	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
9	nsv897700	chr11:64447420-64701030	Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' 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	1071 gene(s)	inside rSNPs	diseases
10	nsv555202	chr11:64477050-64573589	Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
11	nsv468597	chr11:64477050-64584959	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
12	nsv468598	chr11:64477050-64584959	Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
13	nsv555203	chr11:64477050-64584959	Strong transcription Genic enhancers Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
14	nsv1049744	chr11:64486615-64630149	Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
15	nsv832189	chr11:64487183-64620199	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
16	nsv469962	chr11:64527080-64621573	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
17	nsv897702	chr11:64532579-64584231	Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
18	nsv897703	chr11:64538346-64574200	Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
19	nsv519117	chr11:64546391-64573589	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
20	nsv519478	chr11:64546391-64584987	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64546000-64556000	Weak transcription	Gastric	stomach
2	chr11:64546200-64556200	Weak transcription	Ovary	ovary
3	chr11:64546400-64555800	Weak transcription	Lung	lung
4	chr11:64546600-64555400	Weak transcription	Spleen	Spleen
5	chr11:64547200-64553800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:64547200-64553800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr11:64547200-64554600	Weak transcription	Fetal Brain Male	brain
8	chr11:64547200-64555000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:64547200-64555000	Weak transcription	Brain Angular Gyrus	brain
10	chr11:64547200-64555200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:64547200-64555800	Weak transcription	Fetal Lung	lung
12	chr11:64547200-64556000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr11:64547200-64556200	Weak transcription	Esophagus	oesophagus
14	chr11:64547200-64556400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr11:64547200-64556600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr11:64547200-64556600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr11:64547200-64557200	Weak transcription	Aorta	Aorta
18	chr11:64547200-64557400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr11:64547200-64561000	Weak transcription	Fetal Heart	heart
20	chr11:64547200-64563200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr11:64547200-64569600	Weak transcription	Small Intestine	intestine
22	chr11:64547200-64569600	Weak transcription	NH-A	brain
23	chr11:64547200-64569800	Weak transcription	Osteobl	bone
24	chr11:64547200-64570000	Weak transcription	Fetal Kidney	kidney
25	chr11:64547400-64551800	Enhancers	Primary B cells from peripheral blood	blood
26	chr11:64547400-64551800	Weak transcription	HSMM	muscle
27	chr11:64547400-64552600	Weak transcription	Colonic Mucosa	Colon
28	chr11:64547400-64553800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr11:64547400-64553800	Weak transcription	Brain Germinal Matrix	brain
30	chr11:64547400-64555000	Weak transcription	Liver	Liver
31	chr11:64547400-64555000	Weak transcription	Brain Substantia Nigra	brain
32	chr11:64547400-64555200	Weak transcription	A549	lung
33	chr11:64547400-64556000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr11:64547400-64556000	Weak transcription	Adipose Nuclei	Adipose
35	chr11:64547400-64556000	Weak transcription	Brain Anterior Caudate	brain
36	chr11:64547400-64556200	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr11:64547400-64556200	Weak transcription	Stomach Smooth Muscle	stomach
38	chr11:64547400-64557000	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr11:64547400-64557200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr11:64547400-64557200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr11:64547400-64557400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr11:64547400-64557400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr11:64547400-64563200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr11:64547400-64563200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr11:64547400-64563800	Weak transcription	NHLF	lung
46	chr11:64547400-64569600	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr11:64547400-64569800	Weak transcription	NHEK	skin
48	chr11:64547600-64551600	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr11:64547600-64552200	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr11:64547600-64553800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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