Variant report

Variant	rs535362776
Chromosome Location	chr12:124246242-124246243
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	chr12:124245802-124247997	K562	blood:	n/a	n/a
2	NFATC1	chr12:124246043-124247035	GM12878	blood:	n/a	n/a
3	NFATC1	chr12:124246137-124247075	GM12878	blood:	n/a	n/a
4	MAX	chr12:124246213-124247471	HepG2	liver:	n/a	chr12:124246832-124246841 chr12:124246915-124246922 chr12:124247235-124247242 chr12:124247234-124247243 chr12:124247196-124247206
5	MXI1	chr12:124245970-124247083	GM12878	blood:	n/a	n/a
6	POLR2A	chr12:124246142-124247226	H1-hESC	embryonic stem cell:	n/a	n/a
7	STAT5A	chr12:124246098-124247401	GM12878	blood:	n/a	chr12:124247114-124247126
8	PML	chr12:124246122-124247253	GM12878	blood:	n/a	chr12:124246149-124246158
9	MAX	chr12:124246214-124247639	H1-hESC	embryonic stem cell:	n/a	chr12:124246832-124246841 chr12:124246915-124246922 chr12:124247235-124247242 chr12:124247234-124247243 chr12:124247196-124247206
10	NFIC	chr12:124246205-124246619	GM12878	blood:	n/a	n/a
11	ELF1	chr12:124246206-124247371	GM12878	blood:	n/a	chr12:124247197-124247209 chr12:124246618-124246627 chr12:124247223-124247232
12	POLR2A	chr12:124246205-124247045	GM12878	blood:	n/a	n/a
13	MTA3	chr12:124245677-124247263	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:124238409..124242727-chr12:124245328..124248805,4	MCF-7	breast:

Variant related genes	Relation type
DNAH10	TF binding region
ENSG00000185344	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 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	esv3389445	chr12:124245999-124247847	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124201800-124247800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:124203800-124248000	Strong transcription	Dnd41	blood
3	chr12:124224200-124246400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr12:124229800-124246400	Weak transcription	Psoas Muscle	Psoas
5	chr12:124232000-124246400	Weak transcription	NHDF-Ad	bronchial
6	chr12:124234200-124247400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr12:124234800-124246400	Weak transcription	Stomach Mucosa	stomach
8	chr12:124235400-124246400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr12:124239800-124246400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr12:124239800-124246400	Weak transcription	Aorta	Aorta
11	chr12:124239800-124246400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr12:124239800-124246400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr12:124239800-124246400	Weak transcription	HMEC	breast
14	chr12:124239800-124246800	Weak transcription	Brain Angular Gyrus	brain
15	chr12:124239800-124247200	Weak transcription	HSMM	muscle
16	chr12:124239800-124249400	Weak transcription	Brain Substantia Nigra	brain
17	chr12:124239800-124252000	Weak transcription	K562	blood
18	chr12:124240000-124246400	Weak transcription	Ovary	ovary
19	chr12:124241200-124246400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr12:124241200-124246400	Weak transcription	Small Intestine	intestine
21	chr12:124241400-124246400	Weak transcription	Pancreas	Pancrea
22	chr12:124241600-124246400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr12:124241600-124246400	Weak transcription	Esophagus	oesophagus
24	chr12:124241600-124246400	Weak transcription	Gastric	stomach
25	chr12:124242400-124246400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:124242400-124246400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:124242400-124246400	Weak transcription	Spleen	Spleen
28	chr12:124242600-124246400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr12:124242800-124246400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr12:124243200-124246400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr12:124244600-124246400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr12:124244600-124246400	Weak transcription	Lung	lung
33	chr12:124244800-124246400	Weak transcription	Left Ventricle	heart
34	chr12:124244800-124254800	Weak transcription	HSMMtube	muscle
35	chr12:124245800-124246400	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr12:124245800-124246400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
37	chr12:124245800-124246600	Enhancers	Fetal Heart	heart
38	chr12:124245800-124247800	Bivalent Enhancer	Fetal Brain Male	brain
39	chr12:124245800-124248000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr12:124246000-124246400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:124246000-124246400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr12:124246000-124246400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr12:124246000-124246400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
44	chr12:124246000-124246400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr12:124246000-124246400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
46	chr12:124246000-124246400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr12:124246000-124246400	Enhancers	Liver	Liver
48	chr12:124246000-124246400	Bivalent Enhancer	Colon Smooth Muscle	Colon
49	chr12:124246000-124246400	Flanking Active TSS	Fetal Intestine Small	intestine
50	chr12:124246000-124246400	Enhancers	Placenta	Placenta

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