Variant report

Variant	rs190743915
Chromosome Location	chr2:63813593-63813594
allele	A/C
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	ATF1	chr2:63813562-63813698	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:63812159..63813845-chr2:63813874..63816684,2	MCF-7	breast:
2	chr2:63802150..63804372-chr2:63812471..63815243,3	K562	blood:

Variant related genes	Relation type
MDH1	TF binding region
ENSG00000014641	Chromatin interaction
ENSG00000143951	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	esv1800788	chr2:63473443-63900292	ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	esv1792289	chr2:63812148-63900292	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63780200-63814800	Weak transcription	Psoas Muscle	Psoas
2	chr2:63801000-63814400	Weak transcription	Primary B cells from cord blood	blood
3	chr2:63806000-63813600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr2:63806200-63813600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:63806200-63814000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:63808600-63813800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:63808600-63814200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr2:63808800-63813600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr2:63808800-63814800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr2:63809000-63813600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:63809000-63813800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr2:63809000-63813800	Weak transcription	Brain Substantia Nigra	brain
13	chr2:63809000-63814200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:63809000-63814200	Weak transcription	Osteobl	bone
15	chr2:63809200-63813600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:63809200-63813600	Weak transcription	Liver	Liver
17	chr2:63809200-63813600	Weak transcription	NHEK	skin
18	chr2:63809200-63813800	Weak transcription	Brain Anterior Caudate	brain
19	chr2:63809200-63813800	Weak transcription	Right Atrium	heart
20	chr2:63809200-63814000	Weak transcription	Brain Hippocampus Middle	brain
21	chr2:63809200-63814000	Weak transcription	NHDF-Ad	bronchial
22	chr2:63809200-63814200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr2:63809200-63814200	Weak transcription	Adipose Nuclei	Adipose
24	chr2:63809200-63814200	Weak transcription	Right Ventricle	heart
25	chr2:63809200-63814600	Weak transcription	Stomach Mucosa	stomach
26	chr2:63809200-63814800	Weak transcription	Left Ventricle	heart
27	chr2:63809400-63814200	Weak transcription	Colon Smooth Muscle	Colon
28	chr2:63809800-63813800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:63809800-63814400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:63809800-63814800	Weak transcription	Thymus	Thymus
31	chr2:63810400-63814200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:63811200-63813600	Weak transcription	K562	blood
33	chr2:63811800-63814600	Weak transcription	Fetal Stomach	stomach
34	chr2:63812400-63813600	Enhancers	Dnd41	blood
35	chr2:63813000-63817800	Active TSS	H1 Cell Line	embryonic stem cell
36	chr2:63813200-63813600	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr2:63813400-63813600	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr2:63813400-63813600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:63813400-63813800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr2:63813400-63813800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr2:63813400-63814000	Flanking Active TSS	GM12878-XiMat	blood
42	chr2:63813400-63814200	Enhancers	HepG2	liver
43	chr2:63813400-63814800	Enhancers	Fetal Heart	heart
44	chr2:63813400-63817400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:63813400-63817400	Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr2:63813400-63817600	Active TSS	HUES48 Cell Line	embryonic stem cell

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