Variant report

Variant	rs45623136
Chromosome Location	chr1:211847646-211847647
allele	C/G
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	E2F4	chr1:211847458-211849574	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:211843019..211845413-chr1:211846374..211848527,3	MCF-7	breast:
2	chr1:211736674..211739531-chr1:211847084..211848830,2	K562	blood:

Variant related genes	Relation type
ENSG00000231057	TF binding region
NEK2	TF binding region
ENSG00000117650	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754845	chr1:211846605-211878605	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211828600-211847800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr1:211828600-211847800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:211828600-211848000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:211828600-211848000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:211829000-211847800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:211829600-211848600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:211833200-211847800	Weak transcription	Fetal Intestine Small	intestine
8	chr1:211837200-211848000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:211837400-211848000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr1:211838400-211848000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:211841000-211848400	Weak transcription	Stomach Mucosa	stomach
12	chr1:211841400-211848200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr1:211841600-211848000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:211842000-211848400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr1:211843400-211847800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:211843400-211848000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:211843400-211848000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:211844200-211848400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr1:211844400-211848000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr1:211844400-211848000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr1:211844400-211848000	Weak transcription	NH-A	brain
22	chr1:211844400-211848200	Weak transcription	Fetal Intestine Large	intestine
23	chr1:211844600-211847800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr1:211844600-211848000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:211844600-211848000	Weak transcription	Fetal Muscle Leg	muscle
26	chr1:211845600-211847800	Enhancers	Fetal Heart	heart
27	chr1:211845800-211847800	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr1:211845800-211848000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:211846400-211848400	Weak transcription	Small Intestine	intestine
30	chr1:211846600-211847800	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr1:211847200-211848000	Enhancers	Thymus	Thymus
32	chr1:211847400-211847800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:211847400-211847800	Enhancers	Duodenum Mucosa	Duodenum
34	chr1:211847400-211847800	Transcr. at gene 5' and 3'	Dnd41	blood
35	chr1:211847400-211847800	Flanking Active TSS	GM12878-XiMat	blood
36	chr1:211847400-211848000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:211847400-211848000	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr1:211847400-211848200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:211847400-211848200	Flanking Active TSS	K562	blood
40	chr1:211847400-211848400	Flanking Active TSS	Hela-S3	cervix
41	chr1:211847400-211848400	Flanking Active TSS	HepG2	liver
42	chr1:211847600-211847800	Enhancers	H1 Cell Line	embryonic stem cell
43	chr1:211847600-211847800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr1:211847600-211847800	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr1:211847600-211847800	Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr1:211847600-211847800	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr1:211847600-211847800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:211847600-211847800	Enhancers	Fetal Kidney	kidney
49	chr1:211847600-211847800	Flanking Active TSS	NHDF-Ad	bronchial
50	chr1:211847600-211848000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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