Variant report

Variant	rs568596791
Chromosome Location	chr10:119000376-119000377
allele	C/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	ZNF143	chr10:118999786-119000804	H1-hESC	embryonic stem cell:	n/a	chr10:118999801-118999820
2	USF2	chr10:119000070-119000463	H1-hESC	embryonic stem cell:	n/a	n/a
3	CREB1	chr10:118999944-119000859	H1-hESC	embryonic stem cell:	n/a	chr10:119000574-119000587
4	MAX	chr10:119000032-119000563	ECC-1	luminal epithelium:	n/a	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	CTBP2	chr10:118999810-119000801	H1-hESC	embryonic stem cell:	n/a	n/a
6	EGR1	chr10:119000255-119000789	H1-hESC	embryonic stem cell:	n/a	n/a
7	E2F6	chr10:119000014-119000687	H1-hESC	embryonic stem cell:	n/a	chr10:119000575-119000584 chr10:119000577-119000586
8	ZBTB7A	chr10:119000216-119001042	ECC-1	luminal epithelium:	n/a	n/a
9	GABPA	chr10:119000265-119000794	H1-hESC	embryonic stem cell:	n/a	n/a
10	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
11	E2F6	chr10:119000134-119000670	H1-hESC	embryonic stem cell:	n/a	chr10:119000575-119000584 chr10:119000577-119000586
12	YY1	chr10:118999875-119000412	H1-hESC	embryonic stem cell:	n/a	chr10:119000210-119000219 chr10:119000213-119000225
13	YY1	chr10:118999988-119000388	H1-hESC	embryonic stem cell:	n/a	chr10:119000210-119000219 chr10:119000213-119000225
14	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
15	POLR2A	chr10:118999828-119000691	H1-hESC	embryonic stem cell:	n/a	n/a
16	JUND	chr10:119000358-119000715	H1-hESC	embryonic stem cell:	n/a	chr10:119000576-119000585
17	EGR1	chr10:119000290-119000745	H1-hESC	embryonic stem cell:	n/a	n/a
18	ZBTB7A	chr10:119000182-119001122	ECC-1	luminal epithelium:	n/a	n/a
19	POLR2A	chr10:119000346-119000498	H1-hESC	embryonic stem cell:	n/a	n/a
20	USF1	chr10:119000012-119000459	H1-hESC	embryonic stem cell:	n/a	n/a
21	USF1	chr10:118999975-119000459	H1-hESC	embryonic stem cell:	n/a	n/a
22	SIN3A	chr10:118999652-119000895	H1-hESC	embryonic stem cell:	n/a	chr10:119000267-119000276 chr10:119000777-119000790
23	SIN3AK20	chr10:118999946-119000430	H1-hESC	embryonic stem cell:	n/a	n/a
24	MXI1	chr10:119000279-119000433	H1-hESC	embryonic stem cell:	n/a	n/a
25	CREB1	chr10:119000198-119000806	H1-hESC	embryonic stem cell:	n/a	chr10:119000574-119000587
26	TBP	chr10:118999727-119000687	H1-hESC	embryonic stem cell:	n/a	n/a
27	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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:118998600-119000400	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr10:118999000-119000600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr10:118999600-119000400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr10:118999600-119001800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr10:118999600-119002000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr10:118999800-119000400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
7	chr10:118999800-119000800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr10:118999800-119001400	Active TSS	H9 Cell Line	embryonic stem cell
9	chr10:118999800-119001400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
10	chr10:118999800-119001400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr10:118999800-119001600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
12	chr10:118999800-119001600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
13	chr10:118999800-119001600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
14	chr10:119000000-119000400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr10:119000000-119000600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr10:119000000-119000800	Active TSS	H1 Cell Line	embryonic stem cell
17	chr10:119000000-119001000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr10:119000000-119001000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr10:119000000-119001600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
20	chr10:119000000-119001800	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr10:119000200-119000400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr10:119000200-119000400	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr10:119000200-119000400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
24	chr10:119000200-119000400	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr10:119000200-119000400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
26	chr10:119000200-119000400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr10:119000200-119000400	Bivalent Enhancer	Liver	Liver
28	chr10:119000200-119000400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
29	chr10:119000200-119000400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
30	chr10:119000200-119000400	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
31	chr10:119000200-119000400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
32	chr10:119000200-119000400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
33	chr10:119000200-119000400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
34	chr10:119000200-119000400	Bivalent Enhancer	Fetal Intestine Large	intestine
35	chr10:119000200-119000400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
36	chr10:119000200-119000400	Bivalent Enhancer	Fetal Lung	lung
37	chr10:119000200-119000400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
38	chr10:119000200-119000400	Bivalent Enhancer	Fetal Muscle Leg	muscle
39	chr10:119000200-119000400	Bivalent Enhancer	Placenta	Placenta
40	chr10:119000200-119000400	Bivalent Enhancer	Fetal Stomach	stomach
41	chr10:119000200-119000400	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
42	chr10:119000200-119000600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
43	chr10:119000200-119000600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr10:119000200-119000600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr10:119000200-119000600	Bivalent/Poised TSS	Brain Angular Gyrus	brain
46	chr10:119000200-119000800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr10:119000200-119000800	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr10:119000200-119000800	Enhancers	Pancreas	Pancrea
49	chr10:119000200-119001000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
50	chr10:119000200-119001000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood

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