Variant report

Variant	rs530769479
Chromosome Location	chr2:86564321-86564322
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	REST	chr2:86563547-86564323	H1-neurons	neurons:	n/a	chr2:86564247-86564256
2	MXI1	chr2:86563461-86565056	SK-N-SH	brain:	n/a	n/a
3	MAX	chr2:86563768-86564462	ECC-1	luminal epithelium:	n/a	chr2:86563806-86563815
4	TAF1	chr2:86563564-86564495	H1-neurons	neurons:	n/a	n/a
5	POLR2A	chr2:86564306-86564533	ECC-1	luminal epithelium:	n/a	n/a
6	MXI1	chr2:86563751-86564333	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr2:86564260-86564410	GM12875	blood:	n/a	n/a
8	ZBTB7A	chr2:86563654-86564413	ECC-1	luminal epithelium:	n/a	n/a
9	HA-E2F1	chr2:86564164-86565140	Hela-S3	cervix:	n/a	chr2:86564789-86564799 chr2:86564390-86564400 chr2:86564964-86564971 chr2:86564962-86564972 chr2:86564391-86564401 chr2:86564963-86564971 chr2:86564394-86564404 chr2:86564733-86564743 chr2:86564756-86564765 chr2:86564963-86564971
10	E2F1	chr2:86564184-86565170	Hela-S3	cervix:	n/a	chr2:86564789-86564799 chr2:86564390-86564400 chr2:86564964-86564971 chr2:86564962-86564972 chr2:86564391-86564401 chr2:86564963-86564971 chr2:86564394-86564404 chr2:86564733-86564743 chr2:86564770-86564785 chr2:86564756-86564765 chr2:86564963-86564971
11	POLR2A	chr2:86563062-86565332	H1-neurons	neurons:	n/a	n/a
12	SIN3A	chr2:86563706-86565367	H1-hESC	embryonic stem cell:	n/a	chr2:86564364-86564377 chr2:86565008-86565017
13	POLR2A	chr2:86563464-86565221	H1-neurons	neurons:	n/a	n/a
14	POLR2A	chr2:86564281-86564937	MCF-7	breast:	n/a	n/a
15	SMARCB1	chr2:86563154-86564415	Hela-S3	cervix:	n/a	n/a
16	REST	chr2:86562875-86565396	H1-neurons	neurons:	n/a	chr2:86565007-86565017 chr2:86564371-86564381 chr2:86565005-86565019 chr2:86564247-86564256 chr2:86565017-86565030 chr2:86564904-86564917
17	ZBTB7A	chr2:86563982-86564458	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:86422237..86423747-chr2:86562559..86564958,2	MCF-7	breast:

Variant related genes	Relation type
REEP1	TF binding region
ENSG00000132305	Chromatin interaction
ENSG00000273080	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	esv3357801	chr2:86563266-86566214	Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv3448068	chr2:86563641-86565889	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86562400-86565000	Active TSS	Fetal Brain Female	brain
2	chr2:86563000-86565200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
3	chr2:86563000-86565600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr2:86563200-86564400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:86563200-86564400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:86563200-86565000	Active TSS	Brain Anterior Caudate	brain
7	chr2:86563400-86565600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr2:86563400-86565600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr2:86563600-86564400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr2:86563600-86564400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:86563600-86564400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
12	chr2:86563600-86564400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
13	chr2:86563600-86564400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:86563600-86564400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
15	chr2:86563600-86565200	Active TSS	Right Atrium	heart
16	chr2:86563600-86565200	Bivalent/Poised TSS	HSMM	muscle
17	chr2:86563600-86565400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
18	chr2:86563600-86565600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
19	chr2:86563600-86565600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
20	chr2:86563600-86565600	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr2:86563800-86564400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:86563800-86564400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
23	chr2:86563800-86564400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
24	chr2:86563800-86564400	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
25	chr2:86563800-86564400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
26	chr2:86563800-86564400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
27	chr2:86563800-86564400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:86563800-86564400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:86563800-86564400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:86563800-86564400	Active TSS	Brain Substantia Nigra	brain
31	chr2:86563800-86564400	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
32	chr2:86563800-86565000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:86563800-86565000	Active TSS	Left Ventricle	heart
34	chr2:86563800-86565000	Active TSS	HSMMtube	muscle
35	chr2:86563800-86565200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr2:86563800-86565200	Active TSS	Aorta	Aorta
37	chr2:86563800-86565400	Bivalent/Poised TSS	Thymus	Thymus
38	chr2:86564000-86564400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:86564000-86564400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:86564000-86564400	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
41	chr2:86564000-86564400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
42	chr2:86564000-86564400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr2:86564000-86564400	Flanking Active TSS	Liver	Liver
44	chr2:86564000-86564400	Flanking Bivalent TSS/Enh	Placenta	Placenta
45	chr2:86564000-86564400	Flanking Active TSS	Ovary	ovary
46	chr2:86564000-86564400	Flanking Bivalent TSS/Enh	HMEC	breast
47	chr2:86564000-86564800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr2:86564000-86565000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
49	chr2:86564000-86565000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr2:86564000-86565000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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