Variant report

Variant	rs12779225
Chromosome Location	chr10:49732839-49732840
allele	G/T
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	POLR2A	chr10:49732506-49735617	U87	brain:	n/a	n/a
2	ZBTB7A	chr10:49732253-49732875	ECC-1	luminal epithelium:	n/a	chr10:49732512-49732521 chr10:49732609-49732616
3	CTCF	chr10:49732800-49732950	SAEC	small airway:	n/a	n/a
4	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
5	SMC3	chr10:49731882-49732922	SK-N-SH	brain:	n/a	chr10:49732510-49732520 chr10:49732500-49732510 chr10:49732506-49732520
6	MXI1	chr10:49730886-49733057	IMR90	lung:	n/a	n/a
7	RAD21	chr10:49731916-49733130	SK-N-SH	brain:	n/a	chr10:49732041-49732055 chr10:49732508-49732521 chr10:49732510-49732520 chr10:49732505-49732524
8	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
9	POLR2A	chr10:49732512-49735548	U87	brain:	n/a	n/a
10	RAD21	chr10:49732240-49732865	H1-hESC	embryonic stem cell:	n/a	chr10:49732508-49732521 chr10:49732510-49732520 chr10:49732505-49732524
11	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
12	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

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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49731600-49733000	Active TSS	K562	blood
2	chr10:49731600-49734200	Weak transcription	Fetal Kidney	kidney
3	chr10:49731600-49734200	Weak transcription	Fetal Lung	lung
4	chr10:49731800-49733200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr10:49731800-49733800	Weak transcription	Brain Substantia Nigra	brain
6	chr10:49732000-49734000	Weak transcription	Colon Smooth Muscle	Colon
7	chr10:49732200-49734000	Weak transcription	HSMMtube	muscle
8	chr10:49732200-49750800	Weak transcription	Gastric	stomach
9	chr10:49732400-49733000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr10:49732400-49733000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr10:49732400-49733800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr10:49732400-49733800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr10:49732400-49734000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr10:49732400-49734200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr10:49732400-49734200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr10:49732400-49734200	Weak transcription	Brain Anterior Caudate	brain
17	chr10:49732600-49733000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
18	chr10:49732600-49733200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr10:49732600-49733200	Enhancers	NHLF	lung
20	chr10:49732600-49734000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr10:49732600-49734200	Weak transcription	HMEC	breast
22	chr10:49732600-49735200	Weak transcription	Pancreas	Pancrea
23	chr10:49732800-49733000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
24	chr10:49732800-49733000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
25	chr10:49732800-49733000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
26	chr10:49732800-49733000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
27	chr10:49732800-49733400	Genic enhancers	HSMM	muscle
28	chr10:49732800-49733800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr10:49732800-49733800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr10:49732800-49733800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr10:49732800-49733800	Weak transcription	NH-A	brain
32	chr10:49732800-49734000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr10:49732800-49734000	Genic enhancers	Muscle Satellite Cultured Cells	--
34	chr10:49732800-49734000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr10:49732800-49734000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr10:49732800-49734000	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr10:49732800-49734000	Weak transcription	Ovary	ovary
38	chr10:49732800-49734000	Weak transcription	Stomach Smooth Muscle	stomach
39	chr10:49732800-49734000	Enhancers	NHDF-Ad	bronchial
40	chr10:49732800-49734000	Enhancers	Osteobl	bone
41	chr10:49732800-49734200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr10:49732800-49734200	Weak transcription	Brain Angular Gyrus	brain
43	chr10:49732800-49734200	Weak transcription	Brain Hippocampus Middle	brain
44	chr10:49732800-49734200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr10:49732800-49734400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr10:49732800-49735000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr10:49732800-49736200	Enhancers	HUVEC	blood vessel
48	chr10:49732800-49736800	Weak transcription	Right Atrium	heart
49	chr10:49732800-49742000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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