Variant report

Variant	rs568008847
Chromosome Location	chr1:241682127-241682128
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:241654504..241656882-chr1:241679445..241682289,2	K562	blood:
2	chr1:241676840..241679427-chr1:241681305..241683481,5	MCF-7	breast:
3	chr1:241681898..241684060-chr1:242010602..242013002,4	K562	blood:
4	chr1:241680902..241684541-chr1:242009942..242012706,4	K562	blood:

Variant related genes	Relation type
ENSG00000174371	Chromatin interaction
ENSG00000091483	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv918034	chr1:241072791-242005532	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
2	nsv997966	chr1:241100739-242087629	Active TSS Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
3	nsv949442	chr1:241432051-241730054	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1002214	chr1:241458939-242099790	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	nsv549460	chr1:241494578-241833287	Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv1009579	chr1:241499537-241824631	Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv530112	chr1:241522031-241840269	Strong transcription Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv873368	chr1:241533392-242195928	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
9	nsv873371	chr1:241667244-241747838	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	esv3394983	chr1:241681554-241684102	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:241668000-241682200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:241668000-241682200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:241668000-241682200	Weak transcription	Esophagus	oesophagus
4	chr1:241673200-241682200	Weak transcription	Spleen	Spleen
5	chr1:241675800-241682200	Weak transcription	Lung	lung
6	chr1:241676000-241682200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:241680400-241683600	Active TSS	NHLF	lung
8	chr1:241680600-241683600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:241680600-241684000	Active TSS	A549	lung
10	chr1:241680800-241684000	Active TSS	HMEC	breast
11	chr1:241681000-241682400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:241681200-241682200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:241681200-241682200	Flanking Active TSS	Liver	Liver
14	chr1:241681200-241682200	Flanking Active TSS	Fetal Brain Female	brain
15	chr1:241681200-241682400	Flanking Active TSS	Dnd41	blood
16	chr1:241681200-241683400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:241681200-241683600	Active TSS	H1 Cell Line	embryonic stem cell
18	chr1:241681200-241683600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:241681200-241683600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:241681200-241683800	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr1:241681200-241683800	Active TSS	NH-A	brain
22	chr1:241681200-241684000	Active TSS	NHDF-Ad	bronchial
23	chr1:241681400-241682200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:241681400-241682200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr1:241681400-241682400	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr1:241681400-241682600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:241681400-241683400	Active TSS	Right Ventricle	heart
28	chr1:241681400-241683600	Active TSS	Muscle Satellite Cultured Cells	--
29	chr1:241681400-241683800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:241681400-241683800	Active TSS	GM12878-XiMat	blood
31	chr1:241681400-241684000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:241681600-241682200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr1:241681600-241682200	Flanking Active TSS	Fetal Kidney	kidney
34	chr1:241681600-241682200	Flanking Active TSS	Fetal Stomach	stomach
35	chr1:241681600-241682200	Weak transcription	Stomach Mucosa	stomach
36	chr1:241681600-241682400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:241681600-241682400	Active TSS	Right Atrium	heart
38	chr1:241681600-241682600	Active TSS	Fetal Heart	heart
39	chr1:241681600-241682800	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr1:241681600-241683400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:241681600-241683400	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr1:241681600-241683600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:241681600-241683800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr1:241681600-241683800	Active TSS	Fetal Intestine Large	intestine
45	chr1:241681600-241683800	Active TSS	Fetal Muscle Leg	muscle
46	chr1:241681600-241683800	Active TSS	Hela-S3	cervix
47	chr1:241681600-241684000	Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr1:241681600-241684000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr1:241681800-241682200	Active TSS	Primary T cells fromperipheralblood	blood
50	chr1:241681800-241682200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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