Variant report

Variant	rs565720721
Chromosome Location	chr1:211847154-211847155
allele	-/A
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	chr1:211846942-211847167	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	chr1:211827600-211847600	Weak transcription	HSMM	muscle
2	chr1:211827600-211847600	Weak transcription	NHEK	skin
3	chr1:211828600-211847600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr1:211828600-211847600	Weak transcription	Brain Germinal Matrix	brain
5	chr1:211828600-211847800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr1:211828600-211847800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:211828600-211848000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:211828600-211848000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:211828800-211847600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:211829000-211847400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr1:211829000-211847800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:211829600-211848600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:211832400-211847600	Weak transcription	Primary B cells from cord blood	blood
14	chr1:211833200-211847800	Weak transcription	Fetal Intestine Small	intestine
15	chr1:211835400-211847400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:211837200-211848000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr1:211837400-211848000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr1:211837600-211847600	Weak transcription	Fetal Kidney	kidney
19	chr1:211838400-211848000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:211841000-211847600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:211841000-211848400	Weak transcription	Stomach Mucosa	stomach
22	chr1:211841400-211848200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr1:211841600-211848000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr1:211842000-211848400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr1:211843200-211847600	Weak transcription	Fetal Brain Female	brain
26	chr1:211843400-211847200	Weak transcription	Thymus	Thymus
27	chr1:211843400-211847800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:211843400-211848000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:211843400-211848000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:211843600-211847600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr1:211843600-211847600	Weak transcription	Fetal Lung	lung
32	chr1:211844200-211848400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr1:211844400-211848000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr1:211844400-211848000	Weak transcription	Fetal Muscle Trunk	muscle
35	chr1:211844400-211848000	Weak transcription	NH-A	brain
36	chr1:211844400-211848200	Weak transcription	Fetal Intestine Large	intestine
37	chr1:211844600-211847800	Weak transcription	Primary hematopoietic stem cells	blood
38	chr1:211844600-211848000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:211844600-211848000	Weak transcription	Fetal Muscle Leg	muscle
40	chr1:211844800-211847600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:211845000-211847600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr1:211845200-211847400	Genic enhancers	Dnd41	blood
43	chr1:211845200-211847400	Enhancers	HepG2	liver
44	chr1:211845200-211847600	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr1:211845200-211847600	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr1:211845200-211847600	Weak transcription	HMEC	breast
47	chr1:211845600-211847800	Enhancers	Fetal Heart	heart
48	chr1:211845800-211847600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr1:211845800-211847800	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr1:211845800-211848000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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