Variant report

Variant	rs557782968
Chromosome Location	chr15:72568912-72568913
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	BHLHE40	chr15:72568696-72568923	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:72518884..72522571-chr15:72567985..72570130,3	K562	blood:
2	chr15:72518424..72531344-chr15:72562525..72571046,23	K562	blood:
3	chr15:72565043..72567062-chr15:72568655..72571579,4	K562	blood:

Variant related genes	Relation type
PARP6	TF binding region
ENSG00000261460	TF binding region
ENSG00000067225	Chromatin interaction
ENSG00000137817	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431395	chr15:72266174-72701777	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv530817	chr15:72350885-72773374	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
3	esv3430860	chr15:72373723-72849907	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
4	nsv1601	chr15:72549885-72585176	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	esv3366898	chr15:72567548-72569446	Enhancers Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72565600-72569800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr15:72565800-72572600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr15:72566000-72571000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr15:72566000-72573600	Weak transcription	Brain Anterior Caudate	brain
5	chr15:72566000-72573600	Weak transcription	Brain Substantia Nigra	brain
6	chr15:72566000-72575800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr15:72566000-72576400	Weak transcription	Colon Smooth Muscle	Colon
8	chr15:72566000-72577800	Weak transcription	Fetal Intestine Small	intestine
9	chr15:72566000-72582400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr15:72566000-72611400	Weak transcription	Right Ventricle	heart
11	chr15:72566200-72573000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr15:72566200-72573600	Weak transcription	Brain Hippocampus Middle	brain
13	chr15:72566200-72577000	Weak transcription	Ovary	ovary
14	chr15:72566200-72577600	Weak transcription	Brain Angular Gyrus	brain
15	chr15:72566200-72578400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr15:72566200-72579200	Weak transcription	Primary T cells from cord blood	blood
17	chr15:72566400-72573600	Weak transcription	K562	blood
18	chr15:72567000-72611800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr15:72567400-72569000	Enhancers	HSMMtube	muscle
20	chr15:72567600-72569200	Enhancers	HSMM	muscle
21	chr15:72567800-72581400	Weak transcription	Fetal Muscle Leg	muscle
22	chr15:72568400-72569200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr15:72568600-72569000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr15:72568600-72569000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr15:72568800-72569000	Enhancers	NHDF-Ad	bronchial

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