Variant report

Variant	rs320112
Chromosome Location	chr11:63758061-63758062
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:63757630..63760434-chr11:63765175..63767799,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000133315	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11822339	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11827620	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1392118	1.00[AMR][1000 genomes]
rs2133547	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2133548	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs320117	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs320124	0.87[ASN][1000 genomes]
rs56781057	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs57899119	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs59818390	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6591831	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6591832	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7106236	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7127354	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7130187	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73496067	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73496068	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer 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	100 gene(s)	inside rSNPs	diseases
2	nsv468590	chr11:63639881-63783352	Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv555181	chr11:63639881-63783352	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription 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
4	nsv897629	chr11:63664882-63866959	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv897630	chr11:63664882-63924446	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh 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	46 gene(s)	inside rSNPs	diseases
6	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
7	nsv897639	chr11:63691049-63844683	Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	esv1849906	chr11:63719273-63880383	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv1042075	chr11:63732454-63813164	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	esv29993	chr11:63738642-63864211	Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
11	nsv897640	chr11:63744152-63835611	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
12	nsv897641	chr11:63744152-63844683	Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
13	nsv897642	chr11:63744152-63866959	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
14	esv1802079	chr11:63746066-64151373	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	247 gene(s)	inside rSNPs	diseases
15	nsv897643	chr11:63754986-63844683	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
16	nsv897644	chr11:63754986-63849330	Bivalent Enhancer Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
17	nsv897645	chr11:63754986-63859751	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
18	nsv897646	chr11:63754986-64150370	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
19	nsv897647	chr11:63755961-63835611	Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak 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	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63754600-63758600	Weak transcription	Aorta	Aorta
2	chr11:63754800-63767600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:63755000-63766600	Weak transcription	Right Atrium	heart
4	chr11:63755000-63769000	Weak transcription	Fetal Kidney	kidney
5	chr11:63755200-63761200	Weak transcription	HUVEC	blood vessel
6	chr11:63755200-63762000	Weak transcription	Small Intestine	intestine
7	chr11:63755200-63766600	Weak transcription	Stomach Mucosa	stomach
8	chr11:63755200-63775200	Weak transcription	Psoas Muscle	Psoas
9	chr11:63755400-63758400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:63755400-63758400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr11:63755400-63758400	Weak transcription	NHDF-Ad	bronchial
12	chr11:63755400-63758600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr11:63755400-63759000	Weak transcription	Colonic Mucosa	Colon
14	chr11:63755400-63759400	Strong transcription	H9 Cell Line	embryonic stem cell
15	chr11:63755400-63759600	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr11:63755400-63759600	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr11:63755400-63760400	Weak transcription	Brain Angular Gyrus	brain
18	chr11:63755400-63762400	Weak transcription	Brain Substantia Nigra	brain
19	chr11:63755400-63765400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr11:63755400-63765400	Strong transcription	Fetal Stomach	stomach
21	chr11:63755400-63765600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:63755400-63766200	Strong transcription	Fetal Muscle Leg	muscle
23	chr11:63755400-63766200	Strong transcription	Fetal Thymus	thymus
24	chr11:63755400-63766400	Strong transcription	NHLF	lung
25	chr11:63755400-63766600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr11:63755600-63758600	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr11:63755600-63759200	Strong transcription	Adipose Nuclei	Adipose
28	chr11:63755600-63759600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr11:63755600-63759800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:63755600-63764800	Weak transcription	Fetal Brain Male	brain
31	chr11:63755600-63765800	Strong transcription	NHEK	skin
32	chr11:63755600-63766000	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr11:63755600-63766400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr11:63755800-63759400	Strong transcription	Primary B cells from peripheral blood	blood
35	chr11:63755800-63759400	Strong transcription	Brain Inferior Temporal Lobe	brain
36	chr11:63755800-63759400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr11:63755800-63759400	Strong transcription	Ovary	ovary
38	chr11:63755800-63759600	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr11:63755800-63760600	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr11:63755800-63760800	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr11:63755800-63761000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr11:63755800-63761000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr11:63755800-63762200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:63755800-63764800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr11:63755800-63765000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr11:63755800-63766200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr11:63756000-63758400	Strong transcription	Brain Hippocampus Middle	brain
48	chr11:63756000-63759200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr11:63756000-63759200	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr11:63756000-63759200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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