Variant report

Variant	rs200425020
Chromosome Location	chr1:75139181-75139182
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011745	chr1:74730942-75477618	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv535003	chr1:74730942-75477618	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv830248	chr1:74962391-75144458	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv830259	chr1:75089177-75241062	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv461995	chr1:75133142-75166623	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv546578	chr1:75133142-75166623	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75138200-75139800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr1:75138400-75139800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
3	chr1:75138600-75139600	Active TSS	Brain Germinal Matrix	brain
4	chr1:75138600-75139600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:75138600-75139600	Active TSS	Fetal Brain Female	brain
6	chr1:75138600-75139800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr1:75138600-75139800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr1:75138600-75139800	Bivalent/Poised TSS	Fetal Thymus	thymus
9	chr1:75138600-75140000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr1:75138600-75140000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:75138600-75140000	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr1:75138600-75140000	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr1:75138800-75139200	Active TSS	Cortex derived primary cultured neurospheres	brain
14	chr1:75138800-75139200	Flanking Active TSS	Brain Anterior Caudate	brain
15	chr1:75138800-75139200	Active TSS	Psoas Muscle	Psoas
16	chr1:75138800-75139400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
17	chr1:75138800-75139600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
18	chr1:75138800-75139600	Active TSS	H9 Cell Line	embryonic stem cell
19	chr1:75138800-75139600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
20	chr1:75138800-75139600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:75138800-75139600	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
22	chr1:75138800-75139600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
23	chr1:75138800-75139600	Active TSS	NH-A	brain
24	chr1:75138800-75139800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:75138800-75139800	Active TSS	Brain Substantia Nigra	brain
26	chr1:75138800-75140000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:75138800-75140000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
28	chr1:75138800-75140000	Active TSS	Brain Cingulate Gyrus	brain
29	chr1:75139000-75139200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:75139000-75139200	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:75139000-75139200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr1:75139000-75139200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr1:75139000-75139200	Bivalent Enhancer	Primary B cells from cord blood	blood
34	chr1:75139000-75139200	Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr1:75139000-75139200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:75139000-75139200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:75139000-75139200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:75139000-75139200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr1:75139000-75139200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:75139000-75139200	Bivalent Enhancer	Adipose Nuclei	Adipose
41	chr1:75139000-75139200	Bivalent Enhancer	Liver	Liver
42	chr1:75139000-75139200	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
43	chr1:75139000-75139200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
44	chr1:75139000-75139200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
45	chr1:75139000-75139200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
46	chr1:75139000-75139200	Active TSS	Right Ventricle	heart
47	chr1:75139000-75139200	Bivalent Enhancer	Small Intestine	intestine
48	chr1:75139000-75139200	Flanking Active TSS	Stomach Smooth Muscle	stomach
49	chr1:75139000-75139200	Active TSS	Spleen	Spleen
50	chr1:75139000-75139200	Flanking Active TSS	Osteobl	bone

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