Variant report

Variant	rs531737651
Chromosome Location	chr1:166944228-166944229
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916491	chr1:166000783-166948513	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	esv3345801	chr1:166943803-166945951	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166941800-166945400	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr1:166942200-166945800	Active TSS	Fetal Brain Female	brain
3	chr1:166943000-166944400	Flanking Active TSS	Dnd41	blood
4	chr1:166943000-166944400	Flanking Active TSS	GM12878-XiMat	blood
5	chr1:166943200-166945400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr1:166943200-166945400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr1:166943200-166945600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr1:166943400-166946000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:166943600-166944600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
10	chr1:166943600-166945800	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr1:166943800-166944400	Flanking Active TSS	Fetal Brain Male	brain
12	chr1:166943800-166944400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
13	chr1:166943800-166944600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:166943800-166944600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
15	chr1:166943800-166945400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:166943800-166945400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
17	chr1:166943800-166945400	Active TSS	Brain Hippocampus Middle	brain
18	chr1:166943800-166945600	Active TSS	Right Ventricle	heart
19	chr1:166944000-166944400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
20	chr1:166944000-166944400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr1:166944000-166944400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr1:166944000-166944400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
23	chr1:166944000-166944400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr1:166944000-166944400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:166944000-166944400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:166944000-166944400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
27	chr1:166944000-166944400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
28	chr1:166944000-166944400	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
29	chr1:166944000-166944400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
30	chr1:166944000-166944400	Enhancers	Placenta	Placenta
31	chr1:166944000-166944400	Flanking Active TSS	Fetal Thymus	thymus
32	chr1:166944000-166944400	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
33	chr1:166944000-166944400	Bivalent/Poised TSS	HSMM	muscle
34	chr1:166944000-166944400	Bivalent Enhancer	HUVEC	blood vessel
35	chr1:166944000-166944600	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
36	chr1:166944000-166944600	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
37	chr1:166944000-166944600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
38	chr1:166944000-166944600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr1:166944000-166944600	Flanking Active TSS	Liver	Liver
40	chr1:166944000-166944600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
41	chr1:166944000-166945000	Active TSS	Fetal Muscle Trunk	muscle
42	chr1:166944000-166945200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:166944000-166945200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr1:166944000-166945200	Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr1:166944000-166945400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr1:166944000-166945400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:166944000-166945400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr1:166944000-166945400	Active TSS	Aorta	Aorta
49	chr1:166944000-166945400	Active TSS	Brain Substantia Nigra	brain
50	chr1:166944000-166945400	Active TSS	Rectal Smooth Muscle	rectum

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