Variant report

Variant	rs530414350
Chromosome Location	chr15:78423060-78423061
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZBTB7A	chr15:78423014-78423231	K562	blood:	n/a	n/a
2	MAZ	chr15:78423051-78424422	K562	blood:	n/a	chr15:78423785-78423795
3	UBTF	chr15:78422792-78424443	K562	blood:	n/a	n/a
4	MYC	chr15:78423016-78423432	K562	blood:	n/a	n/a
5	MXI1	chr15:78422758-78424690	SK-N-SH	brain:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

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:

No data

Variant related genes	Relation type
IDH3A	TF binding region
ENSG00000174738	Chromatin interaction
ENSG00000103740	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:74 , 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	chr15:78398400-78423200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr15:78417200-78423200	Weak transcription	Adipose Nuclei	Adipose
4	chr15:78421200-78423200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:78421200-78423200	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr15:78421200-78423400	Flanking Active TSS	Fetal Thymus	thymus
7	chr15:78421400-78423200	Flanking Active TSS	Fetal Intestine Large	intestine
8	chr15:78421400-78423200	Enhancers	Fetal Muscle Trunk	muscle
9	chr15:78421400-78423200	Enhancers	Fetal Muscle Leg	muscle
10	chr15:78421400-78423400	Weak transcription	Esophagus	oesophagus
11	chr15:78421400-78423400	Flanking Active TSS	Fetal Intestine Small	intestine
12	chr15:78421600-78423200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr15:78421800-78423200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr15:78421800-78423200	Enhancers	Fetal Heart	heart
15	chr15:78421800-78423400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr15:78421800-78423400	Enhancers	Pancreas	Pancrea
17	chr15:78422000-78423200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr15:78422000-78423200	Enhancers	Colonic Mucosa	Colon
19	chr15:78422000-78423400	Weak transcription	Left Ventricle	heart
20	chr15:78422000-78423400	Weak transcription	Psoas Muscle	Psoas
21	chr15:78422000-78423600	Weak transcription	Lung	lung
22	chr15:78422000-78424000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr15:78422200-78423200	Weak transcription	Brain Angular Gyrus	brain
24	chr15:78422200-78423200	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr15:78422200-78423200	Weak transcription	Right Ventricle	heart
26	chr15:78422200-78424800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr15:78422400-78423200	Weak transcription	Right Atrium	heart
28	chr15:78422400-78423400	Flanking Active TSS	Fetal Brain Female	brain
29	chr15:78422400-78423600	Weak transcription	Spleen	Spleen
30	chr15:78422400-78423600	Weak transcription	Hela-S3	cervix
31	chr15:78422600-78423200	Flanking Active TSS	Duodenum Mucosa	Duodenum
32	chr15:78422600-78423200	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr15:78422600-78423600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr15:78422600-78424200	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr15:78422800-78423200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr15:78422800-78423200	Enhancers	Placenta	Placenta
37	chr15:78422800-78423200	Flanking Active TSS	Thymus	Thymus
38	chr15:78422800-78423200	Enhancers	A549	lung
39	chr15:78422800-78423400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
40	chr15:78422800-78423400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr15:78422800-78423400	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
42	chr15:78422800-78424400	Active TSS	H9 Cell Line	embryonic stem cell
43	chr15:78422800-78424400	Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr15:78422800-78424800	Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr15:78423000-78423200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr15:78423000-78423200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr15:78423000-78423200	Flanking Active TSS	Brain Anterior Caudate	brain
48	chr15:78423000-78423200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr15:78423000-78423200	Enhancers	Fetal Brain Male	brain
50	chr15:78423000-78423200	Weak transcription	Rectal Mucosa Donor 31	rectum

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