Variant report

Variant	rs541723897
Chromosome Location	chr12:42607685-42607686
allele	A/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	MXI1	chr12:42606555-42608010	SK-N-SH	brain:	n/a	n/a
2	NFIC	chr12:42607608-42608351	ECC-1	luminal epithelium:	n/a	n/a
3	GATA3	chr12:42607598-42607748	SH-SY5Y	brain:	n/a	chr12:42607730-42607741 chr12:42607643-42607654

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:42601252..42603432-chr12:42605930..42608444,2	K562	blood:
2	chr12:42605935..42607831-chr12:42611202..42613567,2	K562	blood:

Variant related genes	Relation type
YAF2	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv826351	chr12:42584218-42676281	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv826352	chr12:42593124-42675255	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	esv3450180	chr12:42606625-42607772	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv973057	chr12:42607675-42611336	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42539800-42607800	Weak transcription	Pancreas	Pancrea
2	chr12:42547800-42610400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr12:42550600-42615800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:42552200-42613000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr12:42552400-42620000	Weak transcription	Fetal Brain Female	brain
6	chr12:42555000-42628600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr12:42556800-42613200	Weak transcription	HMEC	breast
8	chr12:42563200-42608000	Weak transcription	Small Intestine	intestine
9	chr12:42568400-42623400	Weak transcription	K562	blood
10	chr12:42568600-42607800	Weak transcription	Right Ventricle	heart
11	chr12:42568800-42630600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:42569600-42630800	Weak transcription	Colonic Mucosa	Colon
13	chr12:42569800-42631000	Weak transcription	Gastric	stomach
14	chr12:42574800-42615600	Weak transcription	HUVEC	blood vessel
15	chr12:42575600-42607800	Weak transcription	Brain Angular Gyrus	brain
16	chr12:42575600-42628600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr12:42575800-42607800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr12:42575800-42607800	Weak transcription	Brain Substantia Nigra	brain
19	chr12:42576600-42607800	Weak transcription	Brain Anterior Caudate	brain
20	chr12:42581800-42607800	Weak transcription	Ovary	ovary
21	chr12:42585200-42608000	Weak transcription	Colon Smooth Muscle	Colon
22	chr12:42586800-42630000	Weak transcription	Fetal Kidney	kidney
23	chr12:42587200-42607800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr12:42587200-42629600	Weak transcription	Lung	lung
25	chr12:42587400-42620000	Weak transcription	Fetal Muscle Trunk	muscle
26	chr12:42587800-42619400	Weak transcription	Fetal Lung	lung
27	chr12:42587800-42623400	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr12:42588200-42607800	Weak transcription	Aorta	Aorta
29	chr12:42588400-42628600	Weak transcription	Thymus	Thymus
30	chr12:42590200-42610400	Weak transcription	HSMMtube	muscle
31	chr12:42591400-42607800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr12:42591400-42607800	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr12:42591600-42628200	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr12:42593000-42613000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr12:42593200-42620000	Weak transcription	Dnd41	blood
36	chr12:42594000-42615400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr12:42594400-42615400	Weak transcription	Primary T cells from cord blood	blood
38	chr12:42595200-42611800	Weak transcription	Primary hematopoietic stem cells	blood
39	chr12:42600400-42608000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr12:42600400-42610600	Weak transcription	NHLF	lung
41	chr12:42600600-42611600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr12:42602400-42628600	Weak transcription	Spleen	Spleen
43	chr12:42602400-42630800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr12:42602800-42611800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr12:42602800-42613200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr12:42602800-42628800	Weak transcription	HepG2	liver
47	chr12:42603000-42607800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr12:42603000-42620200	Weak transcription	Primary B cells from cord blood	blood
49	chr12:42603600-42625800	Weak transcription	GM12878-XiMat	blood
50	chr12:42604400-42607800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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