Variant report

Variant	rs577916930
Chromosome Location	chr1:211589491-211589492
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	POLR2A	chr1:211589457-211589982	Gliobla	brain:	n/a	n/a
2	POLR2A	chr1:211589465-211589888	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr1:211589431-211590586	ProgFib	skin:	n/a	n/a
4	POLR2A	chr1:211589461-211590384	MCF-7	breast:	n/a	n/a
5	POLR2A	chr1:211589451-211589927	GM12878	blood:	n/a	n/a
6	POLR2A	chr1:211589419-211590420	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr1:211589461-211589932	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr1:211589460-211589610	BE2_C	brain:	n/a	n/a
9	CTCF	chr1:211589420-211589570	AG04450	lung:	n/a	n/a
10	POLR2A	chr1:211589419-211590263	GM12878	blood:	n/a	n/a
11	CTCF	chr1:211589360-211589510	HAc	cerebellar:	n/a	n/a
12	CTCF	chr1:211589480-211589630	HCM	heart:	n/a	n/a
13	POLR2A	chr1:211589462-211589989	K562	blood:	n/a	n/a
14	POLR2A	chr1:211589421-211590049	HUVEC	blood vessel:	n/a	n/a
15	RAD21	chr1:211589469-211590450	H1-hESC	embryonic stem cell:	n/a	chr1:211590289-211590301 chr1:211589686-211589700
16	MYC	chr1:211589110-211589541	MCF10A-Er-Src	breast:	n/a	n/a
17	CTCF	chr1:211589480-211589630	HA-sp	spinal cord:	n/a	n/a
18	POLR2A	chr1:211589374-211590610	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
SNX25P1	TF binding region

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	esv3362349	chr1:211588754-211591702	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
4	esv3433824	chr1:211589079-211591127	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211556800-211589800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:211573800-211589600	Weak transcription	Ovary	ovary
3	chr1:211574000-211589600	Weak transcription	Liver	Liver
4	chr1:211580400-211589600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:211581400-211608200	Weak transcription	Primary B cells from peripheral blood	blood
6	chr1:211581800-211589600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:211581800-211589600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:211581800-211589600	Weak transcription	Gastric	stomach
9	chr1:211581800-211590600	Weak transcription	Fetal Intestine Small	intestine
10	chr1:211585400-211593200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:211589200-211589600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
12	chr1:211589200-211589600	Active TSS	Fetal Heart	heart
13	chr1:211589200-211589600	Active TSS	Fetal Kidney	kidney
14	chr1:211589200-211589600	Enhancers	Rectal Smooth Muscle	rectum
15	chr1:211589200-211589600	Active TSS	GM12878-XiMat	blood
16	chr1:211589200-211590200	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr1:211589200-211590400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:211589200-211590400	Enhancers	Primary B cells from cord blood	blood
19	chr1:211589200-211590400	Active TSS	Muscle Satellite Cultured Cells	--
20	chr1:211589200-211590400	Active TSS	Adipose Nuclei	Adipose
21	chr1:211589200-211590400	Active TSS	Duodenum Mucosa	Duodenum
22	chr1:211589200-211590400	Active TSS	NH-A	brain
23	chr1:211589200-211590600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:211589200-211590800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:211589400-211589600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr1:211589400-211589600	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr1:211589400-211589600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:211589400-211589600	Bivalent/Poised TSS	Fetal Brain Female	brain
29	chr1:211589400-211589600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
30	chr1:211589400-211589800	Enhancers	Primary hematopoietic stem cells	blood
31	chr1:211589400-211589800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:211589400-211589800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:211589400-211590000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr1:211589400-211590200	Active TSS	Brain Angular Gyrus	brain
35	chr1:211589400-211590200	Active TSS	Brain Cingulate Gyrus	brain
36	chr1:211589400-211590200	Active TSS	Fetal Intestine Large	intestine
37	chr1:211589400-211590200	Active TSS	Stomach Smooth Muscle	stomach
38	chr1:211589400-211590200	Active TSS	HMEC	breast
39	chr1:211589400-211590400	Active TSS	H1 Cell Line	embryonic stem cell
40	chr1:211589400-211590400	Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr1:211589400-211590400	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr1:211589400-211590400	Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr1:211589400-211590400	Active TSS	Primary T cells from cord blood	blood
44	chr1:211589400-211590400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:211589400-211590400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr1:211589400-211590400	Active TSS	Brain Anterior Caudate	brain
47	chr1:211589400-211590400	Active TSS	Brain Germinal Matrix	brain
48	chr1:211589400-211590400	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr1:211589400-211590400	Active TSS	Psoas Muscle	Psoas
50	chr1:211589400-211590400	Active TSS	Rectal Mucosa Donor 31	rectum

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