Variant report

Variant	rs567425264
Chromosome Location	chr1:211573109-211573110
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:211554866..211557592-chr1:211571886..211574017,3	K562	blood:

Variant related genes	Relation type
ENSG00000153363	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762141	chr1:211538685-211603843	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a
2	esv1824154	chr1:211565640-211614280	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a
3	esv3321965	chr1:211571888-211574349	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	esv3430720	chr1:211571934-211574302	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211556800-211585800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:211556800-211589800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:211557000-211573200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:211557000-211575000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr1:211557000-211576600	Weak transcription	Left Ventricle	heart
6	chr1:211557000-211580600	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr1:211557000-211581000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:211557000-211581800	Weak transcription	Fetal Kidney	kidney
9	chr1:211557200-211573400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr1:211557400-211574400	Weak transcription	Brain Substantia Nigra	brain
11	chr1:211557400-211574400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr1:211557400-211575600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:211557400-211576000	Weak transcription	Fetal Intestine Small	intestine
14	chr1:211557600-211573400	Weak transcription	GM12878-XiMat	blood
15	chr1:211557600-211573400	Weak transcription	Hela-S3	cervix
16	chr1:211557600-211576200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:211565600-211574000	Strong transcription	Liver	Liver
18	chr1:211566800-211574600	Weak transcription	Pancreas	Pancrea
19	chr1:211566800-211574800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:211566800-211576800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr1:211567000-211574600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:211567000-211581600	Weak transcription	Gastric	stomach
23	chr1:211568200-211573400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr1:211568200-211575000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:211568600-211573600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr1:211569000-211576600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:211569800-211573600	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr1:211570000-211573200	Weak transcription	Ovary	ovary
29	chr1:211570000-211574800	Weak transcription	Adipose Nuclei	Adipose
30	chr1:211570000-211575000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:211570200-211574800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:211570800-211581000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr1:211571600-211573800	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr1:211571600-211573800	Active TSS	H9 Cell Line	embryonic stem cell
35	chr1:211571800-211574400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:211572000-211573600	Active TSS	H1 Cell Line	embryonic stem cell
37	chr1:211572000-211573600	Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr1:211572000-211573800	Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr1:211572000-211573800	Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr1:211572000-211574800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:211572400-211573200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr1:211572400-211575000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr1:211572600-211573200	Strong transcription	Placenta	Placenta
44	chr1:211572600-211575400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr1:211572800-211573200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr1:211572800-211573200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr1:211572800-211573200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr1:211572800-211573800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
49	chr1:211573000-211573200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr1:211573000-211573200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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