Variant report

Variant	rs527729553
Chromosome Location	chr12:124458939-124458940
allele	C/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	chr12:124458866-124458991	MCF10A-Er-Src	breast:	n/a	n/a
2	MXI1	chr12:124455887-124459788	SK-N-SH	brain:	n/a	n/a
3	UBTF	chr12:124456240-124458968	K562	blood:	n/a	n/a
4	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
5	E2F4	chr12:124458541-124459050	MCF10A-Er-Src	breast:	n/a	n/a
6	SIN3AK20	chr12:124458171-124459059	MCF-7	breast:	n/a	n/a
7	MXI1	chr12:124455833-124459062	IMR90	lung:	n/a	n/a
8	POLR2A	chr12:124457463-124459009	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:124117230..124119880-chr12:124454893..124459230,4	K562	blood:
2	chr12:124442245..124448648-chr12:124455013..124459797,7	K562	blood:
3	chr12:124443831..124448109-chr12:124456314..124459797,5	K562	blood:
4	chr12:124137852..124140530-chr12:124458317..124460698,2	K562	blood:
5	chr12:124450327..124455412-chr12:124455418..124460730,10	K562	blood:
6	chr12:124116659..124120709-chr12:124455290..124460616,5	K562	blood:
7	chr12:124456565..124458963-chr17:72427263..72429561,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000270061	TF binding region
ENSG00000270095	TF binding region
CCDC92	TF binding region
ENSG00000270061	Chromatin interaction
ENSG00000270048	Chromatin interaction
ENSG00000269938	Chromatin interaction
ENSG00000270130	Chromatin interaction
ENSG00000111361	Chromatin interaction
ENSG00000170412	Chromatin interaction
ENSG00000111358	Chromatin interaction
ENSG00000269997	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:125 , 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	chr12:124455200-124459000	Active TSS	NHDF-Ad	bronchial
3	chr12:124455600-124459000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:124455600-124459400	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr12:124455600-124459400	Active TSS	Fetal Intestine Large	intestine
6	chr12:124455800-124459000	Active TSS	Fetal Intestine Small	intestine
7	chr12:124456000-124459000	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr12:124456000-124459000	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr12:124456000-124459000	Active TSS	Left Ventricle	heart
10	chr12:124456000-124459000	Active TSS	Right Ventricle	heart
11	chr12:124456000-124459200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr12:124456000-124459200	Active TSS	Brain Cingulate Gyrus	brain
13	chr12:124456000-124459200	Active TSS	Duodenum Mucosa	Duodenum
14	chr12:124456000-124459400	Active TSS	NHLF	lung
15	chr12:124456200-124459000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:124456200-124459000	Active TSS	Esophagus	oesophagus
17	chr12:124456200-124459000	Active TSS	Gastric	stomach
18	chr12:124456200-124459000	Active TSS	Lung	lung
19	chr12:124456200-124459000	Active TSS	Ovary	ovary
20	chr12:124456200-124459000	Active TSS	Pancreas	Pancrea
21	chr12:124456200-124459000	Active TSS	Sigmoid Colon	Sigmoid Colon
22	chr12:124456200-124459200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr12:124456400-124459000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr12:124456400-124459000	Active TSS	HSMMtube	muscle
25	chr12:124456400-124459200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr12:124456600-124459000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:124456600-124459000	Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr12:124456600-124459000	Active TSS	Placenta Amnion	Placenta Amnion
29	chr12:124456800-124459400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr12:124457000-124459200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr12:124457800-124459200	Active TSS	Fetal Kidney	kidney
32	chr12:124457800-124459400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr12:124458000-124459000	Flanking Active TSS	Primary B cells from cord blood	blood
34	chr12:124458000-124459200	Active TSS	Brain Germinal Matrix	brain
35	chr12:124458000-124459400	Active TSS	Right Atrium	heart
36	chr12:124458200-124459000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
37	chr12:124458400-124459000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
38	chr12:124458400-124459000	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr12:124458400-124459000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr12:124458400-124459000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr12:124458400-124459000	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr12:124458400-124459000	Flanking Active TSS	Liver	Liver
43	chr12:124458400-124459000	Flanking Active TSS	Colonic Mucosa	Colon
44	chr12:124458400-124459000	Flanking Active TSS	Fetal Thymus	thymus
45	chr12:124458400-124459000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr12:124458400-124459200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
47	chr12:124458400-124459200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
48	chr12:124458400-124459200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
49	chr12:124458400-124459200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr12:124458400-124459200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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