Variant report

Variant	rs550375349
Chromosome Location	chr10:118999865-118999866
allele	-/C
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	ZNF143	chr10:118999786-119000804	H1-hESC	embryonic stem cell:	n/a	chr10:118999801-118999820
2	CTBP2	chr10:118999810-119000801	H1-hESC	embryonic stem cell:	n/a	n/a
3	MXI1	chr10:118999642-118999912	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAX	chr10:118999659-119000601	H1-hESC	embryonic stem cell:	n/a	chr10:118999849-118999859 chr10:119000397-119000407 chr10:119000437-119000447 chr10:119000266-119000279 chr10:119000438-119000447 chr10:119000271-119000279 chr10:119000266-119000279 chr10:119000263-119000282 chr10:119000266-119000279 chr10:119000268-119000277
5	MAX	chr10:118999723-119000462	H1-hESC	embryonic stem cell:	n/a	chr10:118999849-118999859 chr10:119000397-119000407 chr10:119000437-119000447 chr10:119000266-119000279 chr10:119000438-119000447 chr10:119000271-119000279 chr10:119000266-119000279 chr10:119000263-119000282 chr10:119000266-119000279 chr10:119000268-119000277
6	POLR2A	chr10:118999828-119000691	H1-hESC	embryonic stem cell:	n/a	n/a
7	SIN3A	chr10:118999652-119000895	H1-hESC	embryonic stem cell:	n/a	chr10:119000267-119000276 chr10:119000777-119000790
8	TBP	chr10:118999727-119000687	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr10:118999681-119000897	H1-hESC	embryonic stem cell:	n/a	chr10:118999849-118999859 chr10:119000397-119000407 chr10:119000437-119000447 chr10:119000266-119000279 chr10:119000438-119000447 chr10:119000271-119000279 chr10:119000266-119000279 chr10:119000263-119000282 chr10:119000266-119000279 chr10:119000268-119000277

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:118999700..119002680-chr17:41380895..41383406,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PDZD8-1	chr10:118999832-119000515	NONHSAT016512

Variant related genes	Relation type
SLC18A2	TF binding region
ENSG00000236383	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	nsv832002	chr10:118797070-119005840	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
2	nsv896038	chr10:118917671-119002667	Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
3	esv1812234	chr10:118977123-119004095	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv3436378	chr10:118999787-119002535	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:118997400-119000000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr10:118997600-119000200	Weak transcription	Primary T cells from cord blood	blood
3	chr10:118998200-119000000	Enhancers	Primary hematopoietic stem cells	blood
4	chr10:118998600-119000400	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr10:118999000-119000200	Bivalent Enhancer	Fetal Thymus	thymus
6	chr10:118999000-119000600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr10:118999400-119000000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr10:118999400-119000200	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr10:118999600-119000000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
10	chr10:118999600-119000000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr10:118999600-119000400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr10:118999600-119001800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr10:118999600-119002000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
14	chr10:118999800-119000000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
15	chr10:118999800-119000200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
16	chr10:118999800-119000400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
17	chr10:118999800-119000800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr10:118999800-119001400	Active TSS	H9 Cell Line	embryonic stem cell
19	chr10:118999800-119001400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
20	chr10:118999800-119001400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr10:118999800-119001600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
22	chr10:118999800-119001600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
23	chr10:118999800-119001600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell

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