Variant report

Variant	rs527514654
Chromosome Location	chr10:50817648-50817649
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	TEAD4	chr10:50817362-50817761	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr10:50817371-50818074	H1-hESC	embryonic stem cell:	n/a	chr10:50818063-50818073
3	CTBP2	chr10:50816892-50818054	H1-hESC	embryonic stem cell:	n/a	n/a
4	ZBTB7A	chr10:50817083-50818611	ECC-1	luminal epithelium:	n/a	chr10:50818006-50818015 chr10:50818032-50818041
5	CHD2	chr10:50817612-50817790	H1-hESC	embryonic stem cell:	n/a	n/a
6	ZBTB7A	chr10:50817093-50818703	ECC-1	luminal epithelium:	n/a	chr10:50818006-50818015 chr10:50818032-50818041
7	TEAD4	chr10:50817370-50817709	H1-hESC	embryonic stem cell:	n/a	n/a
8	JUND	chr10:50817441-50817765	H1-hESC	embryonic stem cell:	n/a	n/a
9	ZNF143	chr10:50817366-50817953	H1-hESC	embryonic stem cell:	n/a	n/a
10	SIN3A	chr10:50816945-50817952	H1-hESC	embryonic stem cell:	n/a	chr10:50817601-50817612 chr10:50817286-50817299 chr10:50817279-50817290
11	E2F6	chr10:50816726-50817997	H1-hESC	embryonic stem cell:	n/a	chr10:50817512-50817521 chr10:50817510-50817520

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50817275..50819669-chr10:50821869..50826020,4	K562	blood:

Variant related genes	Relation type
CHAT	TF binding region
SLC18A3	TF binding region
ENSG00000070748	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	esv3346476	chr10:50610853-50987802	Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	esv3385048	chr10:50610942-50988537	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv1037405	chr10:50800817-50940545	Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv895378	chr10:50801342-50955649	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv550819	chr10:50815512-50835264	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv3410105	chr10:50816971-50819819	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv3518245	chr10:50817146-50821244	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv3518246	chr10:50817146-50821244	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50815200-50818000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr10:50816600-50820000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
3	chr10:50816600-50820000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr10:50816800-50817800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr10:50816800-50818000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr10:50816800-50819400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr10:50816800-50819800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr10:50817000-50817800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr10:50817000-50818000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr10:50817000-50818400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
11	chr10:50817000-50819000	Bivalent Enhancer	Spleen	Spleen
12	chr10:50817000-50819400	Enhancers	Gastric	stomach
13	chr10:50817200-50817800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr10:50817200-50817800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
15	chr10:50817200-50817800	Bivalent Enhancer	Fetal Intestine Large	intestine
16	chr10:50817200-50817800	Weak transcription	Pancreas	Pancrea
17	chr10:50817200-50818000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr10:50817200-50818000	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
19	chr10:50817200-50818800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr10:50817200-50820000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
21	chr10:50817400-50817800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr10:50817400-50818000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr10:50817400-50818000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr10:50817400-50818200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr10:50817400-50818200	Bivalent Enhancer	Brain Hippocampus Middle	brain
26	chr10:50817400-50818600	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr10:50817400-50818800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
28	chr10:50817400-50819000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
29	chr10:50817400-50819000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
30	chr10:50817400-50819600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
31	chr10:50817600-50817800	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr10:50817600-50817800	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr10:50817600-50817800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
34	chr10:50817600-50817800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr10:50817600-50817800	Bivalent Enhancer	Brain Angular Gyrus	brain
36	chr10:50817600-50817800	Flanking Bivalent TSS/Enh	Lung	lung
37	chr10:50817600-50817800	Flanking Bivalent TSS/Enh	Placenta Amnion	Placenta Amnion
38	chr10:50817600-50817800	Bivalent Enhancer	HMEC	breast
39	chr10:50817600-50817800	Bivalent Enhancer	NHEK	skin
40	chr10:50817600-50818000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr10:50817600-50818000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
42	chr10:50817600-50818000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
43	chr10:50817600-50818000	Bivalent Enhancer	Fetal Lung	lung
44	chr10:50817600-50818000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
45	chr10:50817600-50818000	Flanking Bivalent TSS/Enh	Placenta	Placenta
46	chr10:50817600-50818000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
47	chr10:50817600-50818000	Bivalent Enhancer	Right Ventricle	heart
48	chr10:50817600-50818200	Bivalent Enhancer	Fetal Brain Male	brain
49	chr10:50817600-50818400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr10:50817600-50818400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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