Variant report

Variant	rs11727069
Chromosome Location	chr4:132897213-132897214
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:132897145-132897323	GM12878	blood:	n/a	n/a
2	POLR2A	chr4:132897164-132897408	Hela-S3	cervix:	n/a	n/a
3	TAF1	chr4:132896886-132897485	HepG2	liver:	n/a	n/a
4	POLR2A	chr4:132897169-132897438	HepG2	liver:	n/a	n/a
5	ELF1	chr4:132896458-132897242	GM12878	blood:	n/a	n/a
6	POLR2A	chr4:132897193-132897401	HepG2	liver:	n/a	n/a
7	HEY1	chr4:132897099-132897483	HepG2	liver:	n/a	n/a
8	POLR2A	chr4:132897194-132897435	A549	lung:	n/a	n/a
9	HEY1	chr4:132897166-132897392	K562	blood:	n/a	n/a
10	POLR2A	chr4:132897199-132897314	HepG2	liver:	n/a	n/a
11	POLR2A	chr4:132897202-132897308	A549	lung:	n/a	n/a
12	EBF1	chr4:132897158-132897418	GM12878	blood:	n/a	n/a
13	POLR2A	chr4:132896767-132897549	GM12878	blood:	n/a	n/a
14	TCF3	chr4:132896949-132897593	GM12878	blood:	n/a	n/a
15	RUNX3	chr4:132897185-132897441	GM12878	blood:	n/a	n/a
16	POLR2A	chr4:132897040-132897555	GM12878	blood:	n/a	n/a
17	POLR2A	chr4:132897151-132897313	A549	lung:	n/a	n/a
18	POLR2A	chr4:132896764-132897492	GM12891	blood:	n/a	n/a
19	YY1	chr4:132897195-132897455	A549	lung:	n/a	n/a
20	POLR2A	chr4:132897125-132897505	GM12892	blood:	n/a	n/a
21	TAF1	chr4:132897165-132897352	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr4:132897147-132897391	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr4:132897048-132897393	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr4:132896804-132897564	GM12878	blood:	n/a	n/a
25	POLR2A	chr4:132896868-132897458	A549	lung:	n/a	n/a
26	TAF1	chr4:132897150-132897532	GM12878	blood:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000251555	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs13152500	0.89[AFR][1000 genomes]
rs34298855	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs34878676	0.84[EUR][1000 genomes]
rs35442981	0.84[EUR][1000 genomes]
rs35953868	0.87[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4863852	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533069	chr4:132266740-132906467	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv427695	chr4:132369789-132930726	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv19423	chr4:132558697-132899638	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv1806509	chr4:132569215-132903485	Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv1811989	chr4:132574098-132902027	Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv1807680	chr4:132577148-132902227	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv1812383	chr4:132585798-132903485	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
8	esv1804660	chr4:132592512-132902227	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
9	esv1811099	chr4:132592712-132902027	ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv428450	chr4:132597437-132930726	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	esv1804362	chr4:132644678-132930726	Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	esv1804912	chr4:132644678-132930726	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	esv1811738	chr4:132699078-132903485	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
14	esv1812429	chr4:132757207-132930726	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv830069	chr4:132765958-132942344	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv879989	chr4:132773067-133001527	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv879990	chr4:132783846-133045796	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
18	nsv879991	chr4:132799356-132919103	Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
19	esv19857	chr4:132828045-132901888	Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
20	nsv879992	chr4:132880203-132948418	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
21	nsv879993	chr4:132880203-132961058	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
22	nsv879994	chr4:132880203-132976889	Active TSS Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
23	nsv879995	chr4:132880203-133001527	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
24	nsv879996	chr4:132880203-133005854	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
25	nsv879997	chr4:132880203-133045796	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
26	nsv967797	chr4:132892272-132902984	Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
27	esv1002400	chr4:132895998-132900083	Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
28	esv18692	chr4:132896383-132899767	ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:132895800-132897800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr4:132896000-132897400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr4:132896000-132897400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:132896000-132897400	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr4:132896000-132897400	Active TSS	Fetal Muscle Trunk	muscle
6	chr4:132896000-132897400	Active TSS	Thymus	Thymus
7	chr4:132896000-132897400	Active TSS	GM12878-XiMat	blood
8	chr4:132896000-132897600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr4:132896000-132897600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:132896000-132897600	Active TSS	Primary hematopoietic stem cells	blood
11	chr4:132896000-132897600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
12	chr4:132896000-132897600	Active TSS	Esophagus	oesophagus
13	chr4:132896000-132897600	Active TSS	Fetal Stomach	stomach
14	chr4:132896000-132897800	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr4:132896000-132897800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr4:132896000-132897800	ZNF genes & repeats	Fetal Thymus	thymus
17	chr4:132896000-132897800	Active TSS	Ovary	ovary
18	chr4:132896000-132897800	Active TSS	Stomach Smooth Muscle	stomach
19	chr4:132896000-132897800	Active TSS	Osteobl	bone
20	chr4:132896000-132898000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr4:132896000-132898000	Active TSS	Rectal Mucosa Donor 31	rectum
22	chr4:132896000-132898000	Active TSS	HSMM	muscle
23	chr4:132896000-132898000	Active TSS	HSMMtube	muscle
24	chr4:132896200-132897400	Active TSS	HUVEC	blood vessel
25	chr4:132896200-132897800	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr4:132896200-132897800	Active TSS	Muscle Satellite Cultured Cells	--
27	chr4:132896200-132897800	Active TSS	Lung	lung
28	chr4:132896200-132897800	Active TSS	Pancreas	Pancrea
29	chr4:132896200-132897800	Active TSS	Right Ventricle	heart
30	chr4:132896200-132897800	Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr4:132896400-132897800	ZNF genes & repeats	Fetal Intestine Large	intestine
32	chr4:132896400-132898000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr4:132896600-132897400	Active TSS	Liver	Liver
34	chr4:132896600-132897400	Active TSS	Colon Smooth Muscle	Colon
35	chr4:132896600-132897600	ZNF genes & repeats	Fetal Intestine Small	intestine
36	chr4:132896600-132897800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr4:132896600-132897800	Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr4:132896600-132898000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
39	chr4:132897000-132897800	Active TSS	Placenta	Placenta
40	chr4:132897000-132898000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr4:132897200-132897800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr4:132897200-132897800	ZNF genes & repeats	Fetal Muscle Leg	muscle

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