Variant report

Variant	rs56239996
Chromosome Location	chr11:65730003-65730004
allele	A/T
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65430022..65431720-chr11:65728429..65730460,2	MCF-7	breast:
2	chr11:65626619..65631270-chr11:65726316..65731782,7	MCF-7	breast:
3	chr11:65729174..65730832-chr11:65742979..65745166,3	MCF-7	breast:
4	chr11:65728121..65730647-chr11:66035766..66038196,2	MCF-7	breast:
5	chr11:65683165..65691632-chr11:65723620..65730701,28	MCF-7	breast:
6	chr11:65727969..65730897-chr11:65818847..65821349,3	MCF-7	breast:
7	chr11:65727817..65730505-chr11:65769706..65771571,3	MCF-7	breast:
8	chr11:65727706..65730705-chr11:65767958..65771448,5	K562	blood:
9	chr11:65638377..65641229-chr11:65727913..65730693,2	MCF-7	breast:
10	chr11:65665429..65670947-chr11:65725068..65731705,14	MCF-7	breast:
11	chr11:65477805..65481127-chr11:65728001..65731482,4	MCF-7	breast:
12	chr11:65563461..65568166-chr11:65728932..65730847,4	MCF-7	breast:
13	chr11:65654573..65660022-chr11:65726606..65732418,16	MCF-7	breast:
14	chr11:65684149..65688321-chr11:65727274..65731998,8	MCF-7	breast:
15	chr11:65650800..65661192-chr11:65726307..65736419,31	MCF-7	breast:
16	chr11:65728631..65731213-chr11:65769693..65771448,3	K562	blood:
17	chr11:65727757..65730728-chr11:65768462..65771270,6	MCF-7	breast:
18	chr11:65312318..65314153-chr11:65727479..65730326,3	MCF-7	breast:
19	chr11:65667872..65669981-chr11:65728331..65730041,2	MCF-7	breast:
20	chr11:65623212..65627104-chr11:65728021..65730947,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000173039	Chromatin interaction
ENSG00000172977	Chromatin interaction
ENSG00000175592	Chromatin interaction
ENSG00000175376	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000255404	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000175467	Chromatin interaction
ENSG00000175334	Chromatin interaction
ENSG00000175573	Chromatin interaction
ENSG00000175602	Chromatin interaction
ENSG00000174903	Chromatin interaction
ENSG00000168056	Chromatin interaction
ENSG00000087365	Chromatin interaction
ENSG00000238752	Chromatin interaction
ENSG00000172638	Chromatin interaction
ENSG00000172500	Chromatin interaction
ENSG00000175550	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11227368	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1151512	0.83[EUR][1000 genomes]
rs1204649	0.86[EUR][1000 genomes]
rs12792888	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12794370	0.82[EUR][1000 genomes]
rs12797319	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs14157	0.83[EUR][1000 genomes]
rs1786175	0.83[EUR][1000 genomes]
rs3016868	0.83[EUR][1000 genomes]
rs35049625	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs470192	0.90[EUR][1000 genomes]
rs491973	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs493899	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs503524	0.86[EUR][1000 genomes]
rs528736	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs538954	0.83[EUR][1000 genomes]
rs542332	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs550435	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs551659	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs556643	0.90[EUR][1000 genomes]
rs559078	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55928757	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56154109	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs566590	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs606978	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs613924	0.82[EUR][1000 genomes]
rs642293	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs649000	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs655744	0.82[EUR][1000 genomes]
rs659982	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs660118	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs679581	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7105628	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	nsv948711	chr11:65692760-65949674	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
7	nsv897768	chr11:65715210-65842064	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
8	nsv897769	chr11:65727799-65828625	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Active TSS 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	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65727600-65730200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:65728200-65730400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr11:65728200-65730600	Active TSS	HSMM	muscle
4	chr11:65728400-65730200	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr11:65728400-65730200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:65728400-65730200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:65728600-65730200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:65728600-65730200	Active TSS	Left Ventricle	heart
9	chr11:65728600-65730200	Active TSS	NHDF-Ad	bronchial
10	chr11:65728600-65730400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
11	chr11:65728600-65730600	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr11:65728800-65730200	Active TSS	Aorta	Aorta
13	chr11:65729600-65730200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
14	chr11:65729600-65730200	Flanking Active TSS	Primary B cells from peripheral blood	blood
15	chr11:65729600-65730200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr11:65729600-65730200	Enhancers	Spleen	Spleen
17	chr11:65729600-65730400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:65729600-65730400	Flanking Active TSS	Fetal Thymus	thymus
19	chr11:65729600-65730400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
20	chr11:65729600-65730600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr11:65729600-65730800	Flanking Active TSS	Primary T cells from cord blood	blood
22	chr11:65729600-65730800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
23	chr11:65729600-65730800	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr11:65729600-65730800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr11:65729600-65730800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr11:65729600-65730800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr11:65729600-65730800	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr11:65729600-65730800	Flanking Active TSS	Duodenum Mucosa	Duodenum
29	chr11:65729800-65730200	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:65729800-65730200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr11:65729800-65730400	Flanking Active TSS	H9 Cell Line	embryonic stem cell
32	chr11:65729800-65730400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr11:65729800-65730400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr11:65729800-65730400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
35	chr11:65729800-65730400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr11:65729800-65730400	Flanking Active TSS	Fetal Kidney	kidney
37	chr11:65729800-65730400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr11:65729800-65730400	Flanking Active TSS	Fetal Lung	lung
39	chr11:65729800-65730400	Flanking Active TSS	Placenta	Placenta
40	chr11:65729800-65730400	Flanking Active TSS	Fetal Stomach	stomach
41	chr11:65729800-65730400	Flanking Active TSS	Thymus	Thymus
42	chr11:65729800-65730400	Flanking Active TSS	Dnd41	blood
43	chr11:65729800-65730600	Flanking Active TSS	Primary B cells from cord blood	blood
44	chr11:65729800-65730600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr11:65729800-65730600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
46	chr11:65729800-65730600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
47	chr11:65729800-65730600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr11:65729800-65730600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr11:65729800-65730600	Flanking Active TSS	Brain Cingulate Gyrus	brain
50	chr11:65729800-65730600	Flanking Active TSS	Brain Hippocampus Middle	brain

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