Variant report

Variant	rs200279444
Chromosome Location	chr1:245851306-245851307
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:245850061..245852955-chr1:245853141..245854797,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007728	chr1:245235174-246156455	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv1014558	chr1:245316147-245862041	Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1002499	chr1:245365351-245929051	Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv497871	chr1:245706209-246655353	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv534412	chr1:245747724-246655416	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	esv3403138	chr1:245793113-245892931	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1003594	chr1:245801793-246649329	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription 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	15 gene(s)	inside rSNPs	diseases
8	nsv521141	chr1:245822899-245863222	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv2752867	chr1:245829959-245932959	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1004412	chr1:245830921-246169054	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv535385	chr1:245830921-246169054	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv517510	chr1:245847034-245863222	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv827698	chr1:245847754-245853707	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv873404	chr1:245850095-245964511	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	esv3363668	chr1:245850754-245853302	ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:245841400-245856200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:245844200-245870400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:245846600-245854200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:245847400-245852400	Weak transcription	Lung	lung
5	chr1:245847400-245855200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:245847600-245853800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:245847800-245852600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:245847800-245853600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:245848000-245851400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:245848400-245853600	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr1:245848600-245852800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:245848600-245856800	Weak transcription	Fetal Heart	heart
13	chr1:245849000-245862000	Weak transcription	Spleen	Spleen
14	chr1:245850000-245851800	ZNF genes & repeats	Fetal Stomach	stomach
15	chr1:245850000-245878200	Weak transcription	Placenta	Placenta
16	chr1:245850200-245852400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:245850200-245852800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:245850200-245862000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:245850200-245868600	Weak transcription	Gastric	stomach
20	chr1:245850400-245851400	Enhancers	Primary B cells from peripheral blood	blood
21	chr1:245850400-245878200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr1:245850600-245852600	Weak transcription	Fetal Intestine Small	intestine
23	chr1:245850800-245851400	Bivalent Enhancer	Fetal Thymus	thymus
24	chr1:245850800-245851600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:245851000-245851400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
26	chr1:245851000-245851400	Flanking Active TSS	Brain Germinal Matrix	brain
27	chr1:245851000-245851400	Active TSS	Brain Hippocampus Middle	brain
28	chr1:245851000-245851400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
29	chr1:245851000-245851400	Active TSS	Osteobl	bone
30	chr1:245851000-245851600	Bivalent Enhancer	Fetal Brain Male	brain
31	chr1:245851000-245851600	Active TSS	NHLF	lung
32	chr1:245851000-245851800	Active TSS	Muscle Satellite Cultured Cells	--
33	chr1:245851000-245851800	Active TSS	HSMM	muscle
34	chr1:245851000-245852000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:245851000-245852000	Active TSS	Ovary	ovary
36	chr1:245851000-245852600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr1:245851000-245873200	Weak transcription	Right Ventricle	heart
38	chr1:245851200-245851400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
39	chr1:245851200-245851400	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr1:245851200-245851400	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr1:245851200-245851400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr1:245851200-245851400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:245851200-245851400	Active TSS	Brain Cingulate Gyrus	brain
44	chr1:245851200-245851400	Flanking Active TSS	Fetal Brain Female	brain
45	chr1:245851200-245851600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:245851200-245851600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
47	chr1:245851200-245851600	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
48	chr1:245851200-245851800	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr1:245851200-245852000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
50	chr1:245851200-245852000	Active TSS	Pancreatic Islets	Pancreatic Islet

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