Variant report

Variant	rs7117878
Chromosome Location	chr11:57421457-57421458
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:57421402-57422171	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr11:57421331-57421696	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr11:57421368-57421796	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:57415751..57417478-chr11:57419075..57422993,4	K562	blood:
2	chr11:57415734..57418167-chr11:57421184..57424253,3	K562	blood:
3	chr11:57419081..57422303-chr11:57422733..57426519,4	K562	blood:
4	chr11:57420796..57422353-chr11:57423420..57425537,2	K562	blood:

No data

Variant related genes	Relation type
YPEL4	TF binding region
CLP1	TF binding region
ENSG00000172409	Chromatin interaction
ENSG00000166793	Chromatin interaction
ENSG00000254602	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10792112	0.81[ASN][1000 genomes]
rs10896631	0.88[AFR][1000 genomes]
rs10896633	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10896636	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10896647	0.84[ASN][1000 genomes]
rs11229063	0.88[AFR][1000 genomes]
rs11229066	0.88[AFR][1000 genomes]
rs11229067	0.88[AFR][1000 genomes]
rs11229075	0.88[AFR][1000 genomes]
rs11229113	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11229116	0.88[ASN][1000 genomes]
rs11229130	0.81[ASN][1000 genomes]
rs11229131	0.81[ASN][1000 genomes]
rs11229148	0.84[ASN][1000 genomes]
rs11570190	0.81[ASN][1000 genomes]
rs11601449	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11602109	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11603020	0.88[AFR][1000 genomes]
rs11604325	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11604333	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11605731	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11606396	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11606677	0.93[AFR][1000 genomes]
rs11606706	0.93[AFR][1000 genomes]
rs11607056	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11820040	0.82[AFR][1000 genomes]
rs12146541	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12362166	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12785533	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12790196	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12804972	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12805841	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12807250	0.81[ASN][1000 genomes]
rs1647395	0.89[ASN][1000 genomes]
rs1647405	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17455520	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2081361	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs28362947	0.88[AFR][1000 genomes]
rs28362948	0.88[AFR][1000 genomes]
rs28362949	0.88[AFR][1000 genomes]
rs28362950	0.82[AFR][1000 genomes]
rs28362951	0.88[AFR][1000 genomes]
rs2847308	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2926656	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34052104	0.88[AFR][1000 genomes]
rs35808061	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3824988	0.88[AFR][1000 genomes]
rs4827	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs488769	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4926	0.93[AFR][1000 genomes]
rs499188	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs527528	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs543725	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs547891	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55649513	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs55920079	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs576859	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs708228	0.84[ASN][1000 genomes]
rs7116341	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7121169	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7129727	0.81[EUR][1000 genomes]
rs71484461	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs731384	0.93[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs7932091	0.84[ASN][1000 genomes]
rs7938083	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7949841	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9420	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv832163	chr11:57299354-57481050	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers 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 miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv1040913	chr11:57315006-57696122	Active TSS Flanking Active TSS Weak transcription Enhancers 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	93 gene(s)	inside rSNPs	diseases
6	nsv832164	chr11:57407617-57578825	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer 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 miRNA target site	87 gene(s)	inside rSNPs	diseases
7	nsv508633	chr11:57419585-57560045	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57417800-57424600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:57417800-57424600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:57418000-57424200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr11:57418000-57424200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr11:57418000-57424200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr11:57418000-57424200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr11:57418000-57424400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr11:57418000-57424600	Weak transcription	Right Atrium	heart
9	chr11:57418000-57424600	Weak transcription	HSMM	muscle
10	chr11:57418200-57424200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr11:57418200-57424200	Weak transcription	Brain Hippocampus Middle	brain
12	chr11:57418200-57424400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr11:57418400-57424600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:57418600-57424200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:57418600-57424600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:57418800-57424600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr11:57419600-57422600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr11:57419800-57421600	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr11:57420200-57421600	Weak transcription	Placenta	Placenta
20	chr11:57420200-57424200	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr11:57420400-57424400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr11:57420400-57424400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr11:57420400-57424400	Weak transcription	Thymus	Thymus
24	chr11:57420600-57421600	Enhancers	Primary hematopoietic stem cells	blood
25	chr11:57420600-57424000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr11:57420600-57424000	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr11:57420600-57424000	Weak transcription	Dnd41	blood
28	chr11:57420600-57424200	Weak transcription	Primary T cells from cord blood	blood
29	chr11:57420600-57424200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr11:57420600-57424200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr11:57420600-57424400	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr11:57420600-57424400	Weak transcription	NHLF	lung
33	chr11:57420800-57424000	Weak transcription	Duodenum Mucosa	Duodenum
34	chr11:57420800-57424200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr11:57420800-57424200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr11:57420800-57424200	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr11:57420800-57424200	Weak transcription	Adipose Nuclei	Adipose
38	chr11:57420800-57424200	Weak transcription	K562	blood
39	chr11:57420800-57424400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr11:57420800-57424400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr11:57420800-57424400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr11:57420800-57424400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr11:57420800-57424400	Weak transcription	Osteobl	bone
44	chr11:57421000-57422000	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr11:57421000-57424200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr11:57421000-57424400	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr11:57421200-57421800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr11:57421400-57421600	Bivalent Enhancer	Fetal Muscle Leg	muscle
49	chr11:57421400-57424200	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr11:57421400-57424200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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