Variant report

Variant	rs143142999
Chromosome Location	chr10:49732710-49732711
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	MAX	chr10:49732277-49732734	H1-hESC	embryonic stem cell:	n/a	n/a
2	TCF12	chr10:49731155-49732729	ECC-1	luminal epithelium:	n/a	chr10:49731994-49732001 chr10:49731964-49731971
3	POLR2A	chr10:49731277-49732820	K562	blood:	n/a	n/a
4	CTCF	chr10:49732250-49732731	K562	blood:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520
5	CTCF	chr10:49732620-49732770	GM12864	blood:	n/a	n/a
6	POLR2A	chr10:49732506-49735617	U87	brain:	n/a	n/a
7	ZBTB7A	chr10:49732253-49732875	ECC-1	luminal epithelium:	n/a	chr10:49732512-49732521 chr10:49732609-49732616
8	POLR2A	chr10:49731300-49732712	K562	blood:	n/a	n/a
9	ZBTB7A	chr10:49732356-49732758	ECC-1	luminal epithelium:	n/a	chr10:49732512-49732521 chr10:49732609-49732616
10	CTCF	chr10:49732420-49732710	RPTEC	kidney:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520
11	CTCF	chr10:49732330-49732937	A549	lung:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520
12	SMC3	chr10:49731882-49732922	SK-N-SH	brain:	n/a	chr10:49732510-49732520 chr10:49732500-49732510 chr10:49732506-49732520
13	CTCF	chr10:49732208-49732716	H1-hESC	embryonic stem cell:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732244-49732257 chr10:49732507-49732520
14	CTCF	chr10:49732395-49732798	HCT-116	colon:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520
15	MXI1	chr10:49730886-49733057	IMR90	lung:	n/a	n/a
16	RAD21	chr10:49731916-49733130	SK-N-SH	brain:	n/a	chr10:49732041-49732055 chr10:49732508-49732521 chr10:49732510-49732520 chr10:49732505-49732524
17	CBX3	chr10:49732307-49732713	K562	blood:	n/a	n/a
18	CTCF	chr10:49732680-49732830	AG10803	skin:	n/a	n/a
19	MAX	chr10:49731648-49732763	A549	lung:	n/a	n/a
20	ZBTB7A	chr10:49732288-49732828	K562	blood:	n/a	chr10:49732512-49732521 chr10:49732609-49732616
21	NR2F2	chr10:49732288-49732722	K562	blood:	n/a	n/a
22	CTCF	chr10:49731794-49732880	K562	blood:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732044-49732057 chr10:49732504-49732522 chr10:49732244-49732257 chr10:49732507-49732520
23	CTCF	chr10:49732680-49732830	HPAF	blood vessel:	n/a	n/a
24	MAX	chr10:49731041-49732788	HCT-116	colon:	n/a	n/a
25	GABPA	chr10:49732240-49732737	K562	blood:	n/a	n/a
26	MAZ	chr10:49732291-49732801	K562	blood:	n/a	n/a
27	MAZ	chr10:49730956-49732823	IMR90	lung:	n/a	n/a
28	POLR2A	chr10:49732512-49735548	U87	brain:	n/a	n/a
29	CTCF	chr10:49732620-49732770	RPTEC	kidney:	n/a	n/a
30	CTCF	chr10:49732300-49732719	K562	blood:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520
31	RAD21	chr10:49732385-49732729	H1-hESC	embryonic stem cell:	n/a	chr10:49732508-49732521 chr10:49732510-49732520 chr10:49732505-49732524
32	CTCF	chr10:49732660-49732810	HPAF	blood vessel:	n/a	n/a
33	CTCF	chr10:49732660-49732810	GM12866	blood:	n/a	n/a
34	RAD21	chr10:49732302-49732817	ECC-1	luminal epithelium:	n/a	chr10:49732508-49732521 chr10:49732510-49732520 chr10:49732505-49732524
35	CTCF	chr10:49732317-49732741	A549	lung:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520
36	TCF7L2	chr10:49731281-49732747	HCT-116	colon:	n/a	n/a
37	MAX	chr10:49731055-49732719	ECC-1	luminal epithelium:	n/a	n/a
38	YY1	chr10:49731159-49732754	K562	blood:	n/a	chr10:49731774-49731788 chr10:49732302-49732313 chr10:49732034-49732048 chr10:49731676-49731690 chr10:49731777-49731791 chr10:49731782-49731791 chr10:49732053-49732067 chr10:49732053-49732062 chr10:49732486-49732500 chr10:49732444-49732458 chr10:49731668-49731679 chr10:49731780-49731794 chr10:49732524-49732538
39	CTCF	chr10:49732620-49732770	HMEC	breast:	n/a	n/a
40	CTBP2	chr10:49731252-49732721	H1-hESC	embryonic stem cell:	n/a	n/a
41	ZBTB7A	chr10:49731380-49732781	K562	blood:	n/a	chr10:49732512-49732521 chr10:49732609-49732616
42	RAD21	chr10:49732240-49732865	H1-hESC	embryonic stem cell:	n/a	chr10:49732508-49732521 chr10:49732510-49732520 chr10:49732505-49732524
43	SMC3	chr10:49732033-49732716	K562	blood:	n/a	chr10:49732510-49732520 chr10:49732500-49732510 chr10:49732506-49732520
44	CTCF	chr10:49731064-49732870	SK-N-SH	brain:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49731460-49731473 chr10:49732507-49732520 chr10:49731155-49731162 chr10:49732509-49732519 chr10:49732044-49732057 chr10:49732504-49732522 chr10:49732244-49732257 chr10:49731771-49731784 chr10:49732507-49732520
45	CTCF	chr10:49732660-49732810	HAc	cerebellar:	n/a	n/a
46	CTCF	chr10:49732331-49732752	MCF-7	breast:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520
47	CTCF	chr10:49732660-49732810	AG10803	skin:	n/a	n/a
48	CTCF	chr10:49732262-49732740	IMR90	lung:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520
49	CTCF	chr10:49732307-49732849	HCT-116	colon:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520
50	CHD2	chr10:49732396-49732714	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:49732450..49736073-chr10:49745484..49747337,3	K562	blood:
2	chr10:49731096..49734201-chr10:49864172..49866367,3	K562	blood:
3	chr10:49732429..49733101-chr10:49863990..49864919,5	K562	blood:
4	chr10:49732304..49732912-chr4:153699693..153700213,2	MCF-7	breast:
5	chr10:49639013..49641362-chr10:49732442..49734428,2	K562	blood:

Variant related genes	Relation type
ARHGAP22	TF binding region
ENSG00000128805	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv467191	chr10:49669142-49735563	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv550813	chr10:49669142-49735563	Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv550814	chr10:49705142-49735563	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv3392447	chr10:49731171-49733719	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49730800-49732800	Flanking Active TSS	Primary hematopoietic stem cells	blood
2	chr10:49730800-49732800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr10:49731200-49732800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr10:49731400-49732800	Active TSS	H1 Cell Line	embryonic stem cell
5	chr10:49731400-49732800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr10:49731400-49732800	Active TSS	H9 Cell Line	embryonic stem cell
7	chr10:49731400-49732800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr10:49731400-49732800	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr10:49731400-49732800	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr10:49731400-49732800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr10:49731400-49732800	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr10:49731400-49732800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
13	chr10:49731400-49732800	Active TSS	Ovary	ovary
14	chr10:49731400-49732800	Active TSS	A549	lung
15	chr10:49731600-49733000	Active TSS	K562	blood
16	chr10:49731600-49734200	Weak transcription	Fetal Kidney	kidney
17	chr10:49731600-49734200	Weak transcription	Fetal Lung	lung
18	chr10:49731800-49732800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr10:49731800-49732800	Active TSS	Brain Angular Gyrus	brain
20	chr10:49731800-49732800	Active TSS	Brain Hippocampus Middle	brain
21	chr10:49731800-49733200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr10:49731800-49733800	Weak transcription	Brain Substantia Nigra	brain
23	chr10:49732000-49732800	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr10:49732000-49732800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
25	chr10:49732000-49732800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
26	chr10:49732000-49734000	Weak transcription	Colon Smooth Muscle	Colon
27	chr10:49732200-49732800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr10:49732200-49734000	Weak transcription	HSMMtube	muscle
29	chr10:49732200-49750800	Weak transcription	Gastric	stomach
30	chr10:49732400-49732800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr10:49732400-49732800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr10:49732400-49732800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
33	chr10:49732400-49732800	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr10:49732400-49732800	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
35	chr10:49732400-49733000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr10:49732400-49733000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr10:49732400-49733800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr10:49732400-49733800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr10:49732400-49734000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr10:49732400-49734200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr10:49732400-49734200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr10:49732400-49734200	Weak transcription	Brain Anterior Caudate	brain
43	chr10:49732600-49732800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr10:49732600-49732800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
45	chr10:49732600-49732800	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr10:49732600-49732800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr10:49732600-49732800	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr10:49732600-49732800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr10:49732600-49732800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
50	chr10:49732600-49732800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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