Variant report

Variant	rs571845094
Chromosome Location	chr15:78423326-78423327
allele	A/G
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	ZBTB7A	chr15:78423318-78424352	K562	blood:	n/a	chr15:78423899-78423908 chr15:78424072-78424079
2	MAX	chr15:78423156-78424411	K562	blood:	n/a	chr15:78423785-78423795
3	BHLHE40	chr15:78423234-78423433	K562	blood:	n/a	n/a
4	MAZ	chr15:78423051-78424422	K562	blood:	n/a	chr15:78423785-78423795
5	UBTF	chr15:78422792-78424443	K562	blood:	n/a	n/a
6	MAX	chr15:78423147-78424605	A549	lung:	n/a	chr15:78423785-78423795
7	GTF3C2	chr15:78423071-78424022	K562	blood:	n/a	n/a
8	MYC	chr15:78423016-78423432	K562	blood:	n/a	n/a
9	RCOR1	chr15:78423253-78423398	K562	blood:	n/a	n/a
10	MXI1	chr15:78422758-78424690	SK-N-SH	brain:	n/a	n/a
11	SMC3	chr15:78423238-78424323	SK-N-SH	brain:	n/a	chr15:78423897-78423907

No.	Distal block	Cell Line	Cell type
1	chr15:78421965..78424193-chr15:78465887..78467751,2	K562	blood:
2	chr15:78423050..78427605-chr15:78432495..78437286,5	K562	blood:
3	chr15:78422180..78427678-chr15:78438636..78444300,13	MCF-7	breast:
4	chr15:78421103..78425437-chr15:78438436..78443517,9	MCF-7	breast:
5	chr15:78422233..78425731-chr15:78438987..78443227,7	K562	blood:
6	chr15:78422464..78425441-chr3:23985742..23987944,2	MCF-7	breast:
7	chr15:78422439..78424007-chr15:78432504..78434738,2	MCF-7	breast:
8	chr15:78422015..78425228-chr15:78439030..78443289,7	K562	blood:

Variant related genes	Relation type
IDH3A	TF binding region
ENSG00000103740	Chromatin interaction
ENSG00000174738	Chromatin interaction
ENSG00000260988	Chromatin interaction
ENSG00000166411	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529491	chr15:77932659-78751516	Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	esv3352352	chr15:78422697-78424795	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78396600-78423800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr15:78421200-78423400	Flanking Active TSS	Fetal Thymus	thymus
3	chr15:78421400-78423400	Weak transcription	Esophagus	oesophagus
4	chr15:78421400-78423400	Flanking Active TSS	Fetal Intestine Small	intestine
5	chr15:78421800-78423400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr15:78421800-78423400	Enhancers	Pancreas	Pancrea
7	chr15:78422000-78423400	Weak transcription	Left Ventricle	heart
8	chr15:78422000-78423400	Weak transcription	Psoas Muscle	Psoas
9	chr15:78422000-78423600	Weak transcription	Lung	lung
10	chr15:78422000-78424000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr15:78422200-78424800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr15:78422400-78423400	Flanking Active TSS	Fetal Brain Female	brain
13	chr15:78422400-78423600	Weak transcription	Spleen	Spleen
14	chr15:78422400-78423600	Weak transcription	Hela-S3	cervix
15	chr15:78422600-78423600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr15:78422600-78424200	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr15:78422800-78423400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
18	chr15:78422800-78423400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr15:78422800-78423400	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
20	chr15:78422800-78424400	Active TSS	H9 Cell Line	embryonic stem cell
21	chr15:78422800-78424400	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr15:78422800-78424800	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr15:78423000-78423400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr15:78423000-78423400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr15:78423000-78423400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr15:78423000-78423400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
27	chr15:78423000-78423400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr15:78423000-78423400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr15:78423000-78423400	Flanking Active TSS	Brain Germinal Matrix	brain
30	chr15:78423000-78423800	Enhancers	Stomach Mucosa	stomach
31	chr15:78423000-78424000	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr15:78423000-78424000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
33	chr15:78423000-78424000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr15:78423000-78424200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr15:78423000-78424200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr15:78423000-78424200	Active TSS	Brain Cingulate Gyrus	brain
37	chr15:78423000-78424400	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr15:78423000-78424400	Active TSS	Colon Smooth Muscle	Colon
39	chr15:78423000-78424400	Active TSS	Fetal Stomach	stomach
40	chr15:78423000-78424600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr15:78423000-78424800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr15:78423000-78424800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr15:78423000-78425000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr15:78423200-78423400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr15:78423200-78423400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr15:78423200-78423400	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr15:78423200-78423400	Enhancers	Primary B cells from peripheral blood	blood
48	chr15:78423200-78423400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr15:78423200-78423400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr15:78423200-78423400	Flanking Active TSS	Adipose Nuclei	Adipose

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