Variant report

Variant	rs531659323
Chromosome Location	chr12:124459238-124459239
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	MXI1	chr12:124455887-124459788	SK-N-SH	brain:	n/a	n/a
2	REST	chr12:124455987-124459250	H1-neurons	neurons:	n/a	chr12:124458758-124458766 chr12:124458339-124458352 chr12:124457841-124457854 chr12:124456713-124456733 chr12:124458582-124458591 chr12:124457610-124457620
3	POLR2A	chr12:124459220-124459351	MCF10A-Er-Src	breast:	n/a	n/a
4	MYC	chr12:124459194-124459403	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:124442245..124448648-chr12:124455013..124459797,7	K562	blood:
2	chr12:124443831..124448109-chr12:124456314..124459797,5	K562	blood:
3	chr12:124137852..124140530-chr12:124458317..124460698,2	K562	blood:
4	chr12:124450327..124455412-chr12:124455418..124460730,10	K562	blood:
5	chr12:124116659..124120709-chr12:124455290..124460616,5	K562	blood:

Variant related genes	Relation type
CCDC92	TF binding region
ENSG00000270095	TF binding region
ENSG00000270061	TF binding region
ENSG00000269997	Chromatin interaction
ENSG00000269938	Chromatin interaction
ENSG00000270048	Chromatin interaction
ENSG00000111358	Chromatin interaction
ENSG00000270130	Chromatin interaction
ENSG00000111361	Chromatin interaction
ENSG00000270061	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	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3404000	chr12:124455199-124459397	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv3338195	chr12:124456524-124459372	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
4	esv3493374	chr12:124458433-124496012	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	esv3493363	chr12:124458497-124495976	Strong transcription Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	esv3493385	chr12:124458565-124495928	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124454600-124459800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr12:124455600-124459400	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr12:124455600-124459400	Active TSS	Fetal Intestine Large	intestine
4	chr12:124456000-124459400	Active TSS	NHLF	lung
5	chr12:124456800-124459400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:124457800-124459400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:124458000-124459400	Active TSS	Right Atrium	heart
8	chr12:124458400-124459400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:124458400-124459600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:124458400-124459800	Flanking Active TSS	Dnd41	blood
11	chr12:124458600-124459400	Flanking Active TSS	Brain Substantia Nigra	brain
12	chr12:124458600-124459400	Flanking Active TSS	NHEK	skin
13	chr12:124458600-124459600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
14	chr12:124458600-124459600	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
15	chr12:124458600-124459600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
16	chr12:124458600-124459600	Flanking Active TSS	Osteobl	bone
17	chr12:124458600-124459800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:124458600-124459800	Flanking Active TSS	Fetal Brain Female	brain
19	chr12:124458800-124459400	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr12:124458800-124459400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr12:124458800-124459400	Flanking Active TSS	Brain Angular Gyrus	brain
22	chr12:124458800-124459400	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr12:124458800-124459400	Flanking Active TSS	NH-A	brain
24	chr12:124458800-124459600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
25	chr12:124458800-124459600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr12:124458800-124459600	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr12:124458800-124459600	Flanking Active TSS	Hela-S3	cervix
28	chr12:124458800-124459800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:124458800-124459800	Flanking Active TSS	Fetal Lung	lung
30	chr12:124458800-124460200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr12:124458800-124460800	Weak transcription	Aorta	Aorta
32	chr12:124458800-124465600	Weak transcription	Psoas Muscle	Psoas
33	chr12:124458800-124466600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr12:124458800-124466600	Weak transcription	Spleen	Spleen
35	chr12:124459000-124459400	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
36	chr12:124459000-124459400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr12:124459000-124459400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr12:124459000-124459400	Enhancers	Primary T cells from cord blood	blood
39	chr12:124459000-124459400	Enhancers	Primary hematopoietic stem cells	blood
40	chr12:124459000-124459400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr12:124459000-124459400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr12:124459000-124459400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr12:124459000-124459400	Enhancers	Adipose Nuclei	Adipose
44	chr12:124459000-124459400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr12:124459000-124459400	Enhancers	Colonic Mucosa	Colon
46	chr12:124459000-124459400	Weak transcription	Fetal Thymus	thymus
47	chr12:124459000-124459400	Weak transcription	Gastric	stomach
48	chr12:124459000-124459400	Weak transcription	Pancreas	Pancrea
49	chr12:124459000-124459400	Enhancers	Stomach Mucosa	stomach
50	chr12:124459000-124459400	Enhancers	HSMM	muscle

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