Variant report

Variant	rs531484079
Chromosome Location	chr15:44120588-44120589
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	RCOR1	chr15:44120265-44120669	K562	blood:	n/a	n/a
2	POLR2A	chr15:44120518-44120648	MCF10A-Er-Src	breast:	n/a	n/a
3	RCOR1	chr15:44120324-44120663	K562	blood:	n/a	n/a
4	IRF1	chr15:44120325-44120912	K562	blood:	n/a	chr15:44120591-44120605 chr15:44120589-44120603 chr15:44120591-44120602 chr15:44120593-44120603
5	IRF1	chr15:44120337-44120603	K562	blood:	n/a	chr15:44120589-44120603 chr15:44120591-44120602 chr15:44120593-44120603

No.	Distal block	Cell Line	Cell type
1	chr15:44089858..44095024-chr15:44113933..44120718,10	MCF-7	breast:
2	chr15:44082965..44094882-chr15:44108427..44121402,26	K562	blood:
3	chr15:44112442..44117510-chr15:44119138..44122295,7	K562	blood:
4	chr15:44116010..44118806-chr15:44119254..44122105,3	K562	blood:

Variant related genes	Relation type
MFAP1	TF binding region
ENSG00000140264	Chromatin interaction
ENSG00000221792	Chromatin interaction
ENSG00000184716	Chromatin interaction
ENSG00000140259	Chromatin interaction
ENSG00000242028	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758379	chr15:43823158-44148641	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	esv2760028	chr15:43823158-44148641	Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
3	nsv427960	chr15:43823158-44148641	Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
4	nsv1037786	chr15:43888926-44318587	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv542370	chr15:43888926-44318587	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
6	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
7	nsv931051	chr15:43988761-44833518	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
8	nsv1036318	chr15:44053617-44160773	Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
9	nsv1050263	chr15:44093927-44204047	Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	n/a
10	nsv511550	chr15:44120559-44148142	Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44117400-44150200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr15:44118400-44120800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
3	chr15:44118400-44120800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr15:44118400-44121000	Active TSS	Fetal Kidney	kidney
5	chr15:44118600-44120600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr15:44118600-44120600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
7	chr15:44118600-44120600	Active TSS	Thymus	Thymus
8	chr15:44118600-44120600	Active TSS	HSMM	muscle
9	chr15:44118600-44120800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr15:44118600-44121200	Active TSS	Brain Germinal Matrix	brain
11	chr15:44118800-44120600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr15:44118800-44120600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr15:44118800-44120800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr15:44118800-44121000	Flanking Active TSS	HUVEC	blood vessel
15	chr15:44118800-44121400	Active TSS	GM12878-XiMat	blood
16	chr15:44119000-44120600	Active TSS	Rectal Smooth Muscle	rectum
17	chr15:44119200-44120600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr15:44119200-44120600	Flanking Active TSS	Primary T cells from cord blood	blood
19	chr15:44119200-44120600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr15:44119200-44120600	Flanking Active TSS	Osteobl	bone
21	chr15:44119200-44120800	Active TSS	NHDF-Ad	bronchial
22	chr15:44119400-44120600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr15:44119400-44120600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr15:44119400-44121000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr15:44119600-44120600	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr15:44119600-44120600	Enhancers	Primary hematopoietic stem cells	blood
27	chr15:44119600-44120600	Enhancers	Colon Smooth Muscle	Colon
28	chr15:44119600-44120600	Enhancers	Fetal Brain Male	brain
29	chr15:44119600-44120600	Active TSS	Fetal Muscle Leg	muscle
30	chr15:44119600-44120600	Active TSS	Rectal Mucosa Donor 31	rectum
31	chr15:44119600-44121800	Weak transcription	Placenta	Placenta
32	chr15:44119600-44123000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr15:44119600-44127200	Weak transcription	Left Ventricle	heart
34	chr15:44119600-44127200	Weak transcription	Ovary	ovary
35	chr15:44119600-44127600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr15:44119600-44127600	Weak transcription	Gastric	stomach
37	chr15:44119600-44130600	Weak transcription	Brain Anterior Caudate	brain
38	chr15:44119600-44134400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr15:44119600-44135200	Weak transcription	Lung	lung
40	chr15:44119600-44142000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr15:44119600-44143200	Weak transcription	Aorta	Aorta
42	chr15:44119600-44143400	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr15:44119600-44150600	Weak transcription	Esophagus	oesophagus
44	chr15:44119600-44151000	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr15:44119600-44156400	Weak transcription	Pancreas	Pancrea
46	chr15:44119600-44166000	Weak transcription	Spleen	Spleen
47	chr15:44119600-44169400	Weak transcription	Fetal Intestine Large	intestine
48	chr15:44119600-44172800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr15:44119600-44181800	Weak transcription	Small Intestine	intestine
50	chr15:44119600-44183200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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