Variant report

Variant	rs28613896
Chromosome Location	chr15:44120885-44120886
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	NRF1	chr15:44120881-44120973	H1-hESC	embryonic stem cell:	n/a	n/a
2	IRF1	chr15:44120325-44120912	K562	blood:	n/a	chr15:44120591-44120605 chr15:44120589-44120603 chr15:44120591-44120602 chr15:44120593-44120603

No.	Distal block	Cell Line	Cell type
1	chr15:44082965..44094882-chr15:44108427..44121402,26	K562	blood:
2	chr15:44112442..44117510-chr15:44119138..44122295,7	K562	blood:
3	chr15:44116010..44118806-chr15:44119254..44122105,3	K562	blood:

Variant related genes	Relation type
MFAP1	TF binding region
ENSG00000140259	Chromatin interaction
ENSG00000221792	Chromatin interaction
ENSG00000140264	Chromatin interaction
ENSG00000242028	Chromatin interaction
ENSG00000184716	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:113 , 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	chr15:44118400-44121000	Active TSS	Fetal Kidney	kidney
3	chr15:44118600-44121200	Active TSS	Brain Germinal Matrix	brain
4	chr15:44118800-44121000	Flanking Active TSS	HUVEC	blood vessel
5	chr15:44118800-44121400	Active TSS	GM12878-XiMat	blood
6	chr15:44119400-44121000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr15:44119600-44121800	Weak transcription	Placenta	Placenta
8	chr15:44119600-44123000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr15:44119600-44127200	Weak transcription	Left Ventricle	heart
10	chr15:44119600-44127200	Weak transcription	Ovary	ovary
11	chr15:44119600-44127600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr15:44119600-44127600	Weak transcription	Gastric	stomach
13	chr15:44119600-44130600	Weak transcription	Brain Anterior Caudate	brain
14	chr15:44119600-44134400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr15:44119600-44135200	Weak transcription	Lung	lung
16	chr15:44119600-44142000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr15:44119600-44143200	Weak transcription	Aorta	Aorta
18	chr15:44119600-44143400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr15:44119600-44150600	Weak transcription	Esophagus	oesophagus
20	chr15:44119600-44151000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr15:44119600-44156400	Weak transcription	Pancreas	Pancrea
22	chr15:44119600-44166000	Weak transcription	Spleen	Spleen
23	chr15:44119600-44169400	Weak transcription	Fetal Intestine Large	intestine
24	chr15:44119600-44172800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr15:44119600-44181800	Weak transcription	Small Intestine	intestine
26	chr15:44119600-44183200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr15:44119800-44121000	Weak transcription	HepG2	liver
28	chr15:44119800-44121600	Enhancers	Fetal Heart	heart
29	chr15:44119800-44122800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr15:44119800-44127600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr15:44119800-44144400	Weak transcription	Right Ventricle	heart
32	chr15:44119800-44166400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr15:44120000-44121000	Flanking Active TSS	Fetal Brain Female	brain
34	chr15:44120000-44121200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr15:44120200-44121200	Active TSS	Fetal Thymus	thymus
36	chr15:44120200-44121400	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr15:44120200-44122400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr15:44120200-44124400	Weak transcription	Fetal Intestine Small	intestine
39	chr15:44120200-44126400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr15:44120200-44126800	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr15:44120200-44126800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr15:44120200-44127800	Weak transcription	Primary B cells from cord blood	blood
43	chr15:44120200-44128000	Weak transcription	Adipose Nuclei	Adipose
44	chr15:44120200-44150800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr15:44120400-44121000	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr15:44120400-44121000	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr15:44120400-44121400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
48	chr15:44120400-44121600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
49	chr15:44120400-44121600	Transcr. at gene 5' and 3'	K562	blood
50	chr15:44120400-44123800	Weak transcription	Fetal Muscle Trunk	muscle

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