Variant report

Variant	rs6590808
Chromosome Location	chr11:100559993-100559994
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	EBF1	chr11:100559912-100560137	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:100559088..100560635-chr11:100578926..100581208,2	K562	blood:

Variant related genes	Relation type
ENSG00000248027	TF binding region

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10160326	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10160408	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10160533	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10160586	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10160729	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1021794	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10895006	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10895007	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10895008	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11224367	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11224368	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11224369	0.87[ASN][1000 genomes]
rs11224376	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11224377	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11224378	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11224379	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11224380	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11224381	0.97[ASN][1000 genomes]
rs11224382	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11224387	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11224389	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12280935	0.85[ASN][1000 genomes]
rs4754693	0.82[ASN][1000 genomes]
rs6590807	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6590809	0.82[AFR][1000 genomes]
rs7107791	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7117419	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7127830	0.87[ASN][1000 genomes]
rs73573308	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7929942	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7947643	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7952198	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[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	nsv1053430	chr11:99888390-100629136	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1042067	chr11:99889697-100629136	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv556122	chr11:99893282-100585889	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1037689	chr11:99895378-100624599	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1040942	chr11:99895378-100629136	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1039852	chr11:99901695-100610533	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv541152	chr11:99901695-100610533	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1045190	chr11:99913193-100627395	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription 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	8 gene(s)	inside rSNPs	diseases
9	nsv541153	chr11:99913193-100627395	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv529454	chr11:99913394-100627255	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv520995	chr11:100163957-100681211	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv530643	chr11:100196082-100713156	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv1043022	chr11:100387466-100610533	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv832246	chr11:100426725-100606957	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100557000-100560000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr11:100557200-100560600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:100557400-100560200	Active TSS	Brain Anterior Caudate	brain
4	chr11:100557400-100560200	Active TSS	Right Atrium	heart
5	chr11:100557400-100560600	Active TSS	Fetal Muscle Trunk	muscle
6	chr11:100557400-100561000	Active TSS	HSMMtube	muscle
7	chr11:100557600-100560000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:100557600-100560000	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr11:100557600-100560000	Active TSS	Left Ventricle	heart
10	chr11:100557600-100560000	Active TSS	A549	lung
11	chr11:100557600-100560200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr11:100557600-100560200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:100557600-100560200	Active TSS	Right Ventricle	heart
14	chr11:100557600-100560600	Active TSS	Fetal Stomach	stomach
15	chr11:100557600-100560600	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr11:100557800-100560000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:100557800-100560000	Active TSS	Fetal Muscle Leg	muscle
18	chr11:100557800-100560000	Active TSS	Fetal Thymus	thymus
19	chr11:100557800-100560200	Active TSS	Placenta	Placenta
20	chr11:100557800-100560400	Active TSS	Brain Hippocampus Middle	brain
21	chr11:100557800-100560400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr11:100557800-100560600	Active TSS	Stomach Smooth Muscle	stomach
23	chr11:100558400-100560400	Active TSS	Stomach Mucosa	stomach
24	chr11:100558800-100560000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:100558800-100560000	Flanking Active TSS	Osteobl	bone
26	chr11:100558800-100560200	Enhancers	Primary B cells from peripheral blood	blood
27	chr11:100558800-100560600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr11:100558800-100560600	Weak transcription	Esophagus	oesophagus
29	chr11:100558800-100560800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:100559000-100560000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr11:100559000-100560000	Bivalent/Poised TSS	Fetal Lung	lung
32	chr11:100559000-100560000	Enhancers	Placenta Amnion	Placenta Amnion
33	chr11:100559200-100560000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr11:100559200-100560000	Weak transcription	Brain Cingulate Gyrus	brain
35	chr11:100559200-100560000	Weak transcription	Lung	lung
36	chr11:100559200-100560000	Weak transcription	Pancreas	Pancrea
37	chr11:100559200-100560200	Enhancers	Primary B cells from cord blood	blood
38	chr11:100559200-100560200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
39	chr11:100559200-100560200	Enhancers	Colon Smooth Muscle	Colon
40	chr11:100559200-100560400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr11:100559200-100560600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr11:100559200-100560600	Weak transcription	Gastric	stomach
43	chr11:100559200-100561200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr11:100559400-100560000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr11:100559400-100560000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
46	chr11:100559400-100560400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr11:100559400-100560400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr11:100559400-100560600	Active TSS	GM12878-XiMat	blood
49	chr11:100559400-100561000	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr11:100559400-100561000	Enhancers	NHEK	skin

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