Variant report

Variant	rs386639387
Chromosome Location	chr1:217313244-217313245
allele	ATG/TTT
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	chr1:217311387-217313261	H1-neurons	neurons:	n/a	n/a
2	SUZ12	chr1:217307066-217313271	NT2-D1	testis:	n/a	n/a
3	POLR2A	chr1:217313217-217313787	H1-neurons	neurons:	n/a	n/a
4	CTBP2	chr1:217312986-217314261	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:217308030..217310144-chr1:217311163..217313790,2	MCF-7	breast:
2	chr1:217311976..217314907-chr1:217319601..217322587,2	MCF-7	breast:

Variant related genes	Relation type
ESRRG	TF binding region

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	esv3363004	chr1:217312379-217314377	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:217307200-217314200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr1:217307200-217314200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr1:217307400-217314200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
4	chr1:217309800-217313800	Bivalent Enhancer	Fetal Brain Male	brain
5	chr1:217312000-217313400	Bivalent Enhancer	Fetal Lung	lung
6	chr1:217312000-217313600	Bivalent Enhancer	Adipose Nuclei	Adipose
7	chr1:217312400-217313600	Enhancers	Fetal Heart	heart
8	chr1:217312400-217313800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:217312400-217314000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr1:217312600-217313600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
11	chr1:217312600-217313800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
12	chr1:217312600-217313800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
13	chr1:217312600-217314200	Bivalent Enhancer	Placenta	Placenta
14	chr1:217312800-217313600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:217312800-217313600	Active TSS	Brain Anterior Caudate	brain
16	chr1:217312800-217313600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
17	chr1:217312800-217314200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr1:217312800-217314200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
19	chr1:217312800-217314400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
20	chr1:217313000-217313400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
21	chr1:217313000-217313400	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr1:217313000-217313400	Bivalent/Poised TSS	NH-A	brain
23	chr1:217313000-217313600	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:217313000-217313600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr1:217313000-217313600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:217313000-217313800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:217313000-217313800	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:217313000-217313800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:217313000-217313800	Bivalent/Poised TSS	Fetal Brain Female	brain
30	chr1:217313000-217314200	Active TSS	Right Atrium	heart
31	chr1:217313000-217314400	Active TSS	Right Ventricle	heart
32	chr1:217313200-217313400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
33	chr1:217313200-217313400	Active TSS	Brain Angular Gyrus	brain
34	chr1:217313200-217313400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
35	chr1:217313200-217313400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
36	chr1:217313200-217313600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:217313200-217313600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:217313200-217313600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr1:217313200-217313600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
40	chr1:217313200-217313600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr1:217313200-217313600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
42	chr1:217313200-217313600	Active TSS	Brain Substantia Nigra	brain
43	chr1:217313200-217313600	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
44	chr1:217313200-217313600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
45	chr1:217313200-217313600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
46	chr1:217313200-217313600	Bivalent Enhancer	Fetal Stomach	stomach
47	chr1:217313200-217313600	Enhancers	Pancreas	Pancrea
48	chr1:217313200-217313800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:217313200-217313800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr1:217313200-217313800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain

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