Variant report

Variant	rs4775133
Chromosome Location	chr15:59513564-59513565
allele	A/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	POLR2A	chr15:59513375-59514018	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr15:59513443-59513731	GM12891	blood:	n/a	n/a
3	POLR2A	chr15:59513422-59513980	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr15:59513357-59514208	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr15:59513441-59513787	GM12891	blood:	n/a	n/a
6	POLR2A	chr15:59513562-59513999	GM12891	blood:	n/a	n/a
7	POLR2A	chr15:59513554-59514138	GM12892	blood:	n/a	n/a
8	POLR2A	chr15:59513229-59514084	GM12892	blood:	n/a	n/a

Variant related genes	Relation type
MYO1E	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11071415	1.00[EUR][1000 genomes]
rs11636223	1.00[EUR][1000 genomes]
rs12439599	0.97[LWK][hapmap];0.85[AFR][1000 genomes]
rs4775122	1.00[EUR][1000 genomes]
rs4775127	1.00[EUR][1000 genomes]
rs4775132	1.00[EUR][1000 genomes]
rs4775134	1.00[EUR][1000 genomes]
rs6494076	1.00[EUR][1000 genomes]
rs7166294	1.00[EUR][1000 genomes]
rs7166690	1.00[EUR][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	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv833025	chr15:59336148-59522176	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1035868	chr15:59402426-59530594	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv833027	chr15:59474806-59608544	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv904272	chr15:59500577-59549018	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv2760385	chr15:59506428-59513647	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	3 gene(s)	inside rSNPs	n/a
7	nsv977071	chr15:59509537-59519089	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59467800-59523200	Weak transcription	Fetal Brain Female	brain
2	chr15:59468200-59528600	Weak transcription	Stomach Mucosa	stomach
3	chr15:59468600-59521400	Strong transcription	Rectal Mucosa Donor 29	rectum
4	chr15:59475800-59517800	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr15:59483200-59514000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr15:59485400-59515400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr15:59485600-59521200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr15:59487800-59524400	Weak transcription	Small Intestine	intestine
9	chr15:59489800-59515600	Weak transcription	Right Atrium	heart
10	chr15:59492000-59521600	Strong transcription	Rectal Mucosa Donor 31	rectum
11	chr15:59493000-59513800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr15:59493200-59513600	Strong transcription	Osteobl	bone
13	chr15:59493200-59513800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr15:59493200-59514400	Strong transcription	HMEC	breast
15	chr15:59493200-59523200	Strong transcription	Hela-S3	cervix
16	chr15:59494800-59514200	Strong transcription	A549	lung
17	chr15:59496800-59515200	Weak transcription	Spleen	Spleen
18	chr15:59496800-59515600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr15:59496800-59522000	Strong transcription	NHEK	skin
20	chr15:59497000-59514600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr15:59497000-59524800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr15:59497200-59517600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr15:59498000-59516000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr15:59498800-59522000	Strong transcription	GM12878-XiMat	blood
25	chr15:59500000-59513600	Weak transcription	Fetal Kidney	kidney
26	chr15:59500000-59515000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr15:59500000-59515000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr15:59500000-59517600	Weak transcription	Fetal Lung	lung
29	chr15:59500000-59524400	Weak transcription	Right Ventricle	heart
30	chr15:59500600-59524600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr15:59501200-59514200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr15:59501200-59515000	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr15:59501200-59515000	Weak transcription	Pancreas	Pancrea
34	chr15:59501200-59521400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr15:59501200-59523400	Weak transcription	Ovary	ovary
36	chr15:59501200-59525600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr15:59501400-59514200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr15:59502800-59513600	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr15:59502800-59525800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr15:59503200-59513600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr15:59503800-59518000	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr15:59504000-59520200	Strong transcription	Liver	Liver
43	chr15:59504600-59513600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr15:59504800-59517800	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr15:59505200-59516000	Weak transcription	Brain Anterior Caudate	brain
46	chr15:59505600-59513600	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr15:59505800-59518000	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr15:59506400-59513600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr15:59506800-59517400	Strong transcription	H1 Cell Line	embryonic stem cell
50	chr15:59507000-59513600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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