Variant report

Variant	rs651283
Chromosome Location	chr11:65155184-65155185
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr11:65153382-65155193	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:65154772..65156605-chr11:65625973..65627767,2	MCF-7	breast:
2	chr11:65116402..65157784-chr11:65261420..65278410,154	K562	blood:
3	chr11:65153863..65156638-chr11:65338515..65340857,2	MCF-7	breast:
4	chr11:65153842..65155849-chr17:56735396..56736913,2	MCF-7	breast:

Variant related genes	Relation type
SLC25A45	TF binding region
ENSG00000251562	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000270117	Chromatin interaction
ENSG00000176973	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000202077	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2073800	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4930154	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs547221	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs578270	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs585210	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs652501	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs681309	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic 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	1539 gene(s)	inside rSNPs	diseases
2	esv2422285	chr11:65013294-65254540	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong 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	474 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv541065	chr11:65117387-65271894	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	835 gene(s)	inside rSNPs	diseases
6	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
7	nsv897717	chr11:65140209-65278461	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS 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	942 gene(s)	inside rSNPs	diseases
8	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
9	nsv541066	chr11:65142779-65271894	Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers 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	833 gene(s)	inside rSNPs	diseases
10	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
11	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
12	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
13	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
14	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

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65153600-65155800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
2	chr11:65153800-65155400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr11:65154000-65155200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr11:65154000-65155200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr11:65154000-65155200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:65154000-65155400	Active TSS	Muscle Satellite Cultured Cells	--
7	chr11:65154000-65155400	Active TSS	HSMM	muscle
8	chr11:65154000-65155400	Active TSS	Osteobl	bone
9	chr11:65154000-65155600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr11:65154400-65155200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr11:65154400-65155200	Flanking Active TSS	Brain Hippocampus Middle	brain
12	chr11:65154400-65155200	Flanking Active TSS	Duodenum Mucosa	Duodenum
13	chr11:65154400-65155200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr11:65154400-65155600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr11:65154400-65156000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr11:65154600-65155200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:65154600-65155200	Flanking Active TSS	HUVEC	blood vessel
18	chr11:65154600-65155400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr11:65154600-65155400	Flanking Active TSS	Dnd41	blood
20	chr11:65154600-65155600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr11:65154600-65155600	Flanking Active TSS	Hela-S3	cervix
22	chr11:65154600-65156600	Enhancers	Gastric	stomach
23	chr11:65154600-65157200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:65154800-65155200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr11:65154800-65155400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr11:65154800-65155400	Weak transcription	Left Ventricle	heart
27	chr11:65154800-65155400	Weak transcription	Right Atrium	heart
28	chr11:65154800-65155400	Weak transcription	Small Intestine	intestine
29	chr11:65154800-65155400	Weak transcription	Stomach Mucosa	stomach
30	chr11:65154800-65155600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr11:65154800-65155600	Enhancers	Fetal Muscle Leg	muscle
32	chr11:65154800-65155600	Enhancers	Spleen	Spleen
33	chr11:65154800-65155800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr11:65154800-65155800	Enhancers	Placenta	Placenta
35	chr11:65154800-65155800	Enhancers	Fetal Thymus	thymus
36	chr11:65154800-65156000	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr11:65154800-65156000	Enhancers	Colonic Mucosa	Colon
38	chr11:65154800-65156400	Weak transcription	Ovary	ovary
39	chr11:65154800-65157200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr11:65154800-65157400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr11:65154800-65157400	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr11:65154800-65157400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr11:65154800-65157800	Weak transcription	Fetal Heart	heart
44	chr11:65154800-65161000	Weak transcription	Aorta	Aorta
45	chr11:65154800-65164800	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr11:65155000-65155200	Enhancers	Colon Smooth Muscle	Colon
47	chr11:65155000-65155200	Enhancers	Fetal Brain Female	brain
48	chr11:65155000-65155200	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr11:65155000-65155200	Weak transcription	Right Ventricle	heart
50	chr11:65155000-65155200	Enhancers	Thymus	Thymus

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