Variant report

Variant	rs373065802
Chromosome Location	chr1:242613414-242613415
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	EP300	chr1:242613348-242613650	SK-N-SH_RA	brain:	n/a	n/a
2	EP300	chr1:242613376-242613583	SK-N-SH_RA	brain:	n/a	n/a
3	GATA2	chr1:242613329-242613681	SH-SY5Y	brain:	n/a	n/a

Variant related genes	Relation type
PLD5	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv549463	chr1:242265419-242856854	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv430391	chr1:242307104-243280885	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv817488	chr1:242330066-243121127	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv868888	chr1:242330066-243191101	Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv1003844	chr1:242363698-242904755	Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv549464	chr1:242411114-242842300	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv549465	chr1:242465655-242989157	Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv1014487	chr1:242532959-243011891	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv535367	chr1:242532959-243011891	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv873377	chr1:242607583-243114662	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv945414	chr1:242610697-242858815	Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv998238	chr1:242613214-243041351	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:242597800-242619000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:242609800-242613600	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr1:242611000-242613600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr1:242611000-242632200	Weak transcription	HMEC	breast
5	chr1:242611200-242615600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:242611400-242613600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr1:242612200-242613600	Bivalent Enhancer	Fetal Lung	lung
8	chr1:242612400-242613600	Enhancers	Fetal Stomach	stomach
9	chr1:242612600-242613600	Enhancers	Ovary	ovary
10	chr1:242612600-242613800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:242612600-242616200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:242612800-242613800	Weak transcription	Fetal Muscle Leg	muscle
13	chr1:242613000-242618000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:242613200-242613800	Enhancers	Brain Germinal Matrix	brain
15	chr1:242613200-242614000	Enhancers	Brain Hippocampus Middle	brain
16	chr1:242613200-242616800	Weak transcription	Aorta	Aorta
17	chr1:242613200-242617800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr1:242613200-242618000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr1:242613200-242618000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr1:242613200-242619000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:242613200-242621600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:242613400-242613800	Enhancers	Brain Substantia Nigra	brain
23	chr1:242613400-242616000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr1:242613400-242616000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr1:242613400-242618000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr1:242613400-242618000	Weak transcription	Brain Anterior Caudate	brain
27	chr1:242613400-242640400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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