Variant report

Variant	rs370147680
Chromosome Location	chr15:72599269-72599270
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	RFX5	chr15:72598399-72599314	SK-N-SH	brain:	n/a	chr15:72598757-72598772 chr15:72598809-72598824 chr15:72598785-72598800 chr15:72598782-72598799 chr15:72598757-72598772 chr15:72598783-72598798 chr15:72598783-72598798 chr15:72598808-72598825 chr15:72598809-72598824 chr15:72598809-72598824
2	REST	chr15:72597881-72600092	H1-neurons	neurons:	n/a	chr15:72599014-72599027 chr15:72598868-72598881
3	POLR2A	chr15:72598397-72599331	H1-neurons	neurons:	n/a	n/a
4	POLR2A	chr15:72598334-72599903	H1-neurons	neurons:	n/a	n/a
5	ZNF263	chr15:72599073-72599413	HEK293-T-REx	kidney:	n/a	chr15:72599172-72599193

No.	Distal block	Cell Line	Cell type
1	chr15:72597786..72600011-chr15:72766508..72768760,2	K562	blood:
2	chr15:72564850..72566745-chr15:72598121..72600222,2	K562	blood:
3	chr15:72564706..72566745-chr15:72598121..72601390,3	K562	blood:

Variant related genes	Relation type
CELF6	TF binding region
ENSG00000261423	Chromatin interaction
ENSG00000137817	Chromatin interaction
ENSG00000166233	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 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	esv3451604	chr15:72599249-72599831	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72566000-72611400	Weak transcription	Right Ventricle	heart
2	chr15:72567000-72611800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr15:72573200-72603000	Weak transcription	Fetal Intestine Large	intestine
4	chr15:72578000-72611800	Weak transcription	Ovary	ovary
5	chr15:72579600-72602400	Weak transcription	Primary T cells from cord blood	blood
6	chr15:72582000-72608000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr15:72582000-72611800	Weak transcription	Spleen	Spleen
8	chr15:72583800-72611600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr15:72590200-72604800	Weak transcription	Aorta	Aorta
10	chr15:72590600-72607600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr15:72590800-72602000	Weak transcription	Left Ventricle	heart
12	chr15:72595400-72604600	Weak transcription	Lung	lung
13	chr15:72596000-72612400	Weak transcription	Adipose Nuclei	Adipose
14	chr15:72597000-72600400	Enhancers	Fetal Brain Male	brain
15	chr15:72597600-72600400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr15:72597600-72605800	Weak transcription	Fetal Intestine Small	intestine
17	chr15:72598000-72600000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr15:72598000-72600000	Enhancers	Brain Angular Gyrus	brain
19	chr15:72598200-72599800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr15:72598200-72600000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr15:72598400-72599400	Enhancers	Primary T cells fromperipheralblood	blood
22	chr15:72598800-72599400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr15:72598800-72599400	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr15:72598800-72599600	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr15:72599000-72599400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr15:72599000-72599400	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr15:72599000-72599400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr15:72599000-72599400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr15:72599000-72599400	Flanking Active TSS	Fetal Brain Female	brain
30	chr15:72599000-72599600	Flanking Active TSS	Brain Germinal Matrix	brain
31	chr15:72599000-72599600	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr15:72599200-72599400	Flanking Active TSS	Brain Anterior Caudate	brain
33	chr15:72599200-72600000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr15:72599200-72611400	Weak transcription	Brain Hippocampus Middle	brain
35	chr15:72599200-72611600	Weak transcription	Brain Cingulate Gyrus	brain

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