Variant report

Variant	rs12757995
Chromosome Location	chr1:220244443-220244444
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:220239216..220241724-chr1:220243236..220244881,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12568334	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17563262	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17563518	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17563587	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2053250	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57728897	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60531981	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61484867	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72747321	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72747325	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72747385	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72747386	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72747387	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72747389	0.91[ASN][1000 genomes]
rs72747390	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72747391	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7549450	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427930	chr1:220120379-220333434	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	744 gene(s)	inside rSNPs	diseases
2	nsv832636	chr1:220139697-220294352	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	738 gene(s)	inside rSNPs	diseases
3	esv2753619	chr1:220210273-220302117	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	737 gene(s)	inside rSNPs	diseases
4	nsv549222	chr1:220226732-220246392	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	4 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	chr1:220220400-220257600	Weak transcription	Stomach Mucosa	stomach
2	chr1:220220600-220245800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr1:220220600-220262400	Weak transcription	Pancreas	Pancrea
4	chr1:220220600-220262400	Weak transcription	NHLF	lung
5	chr1:220220800-220261600	Weak transcription	Fetal Brain Male	brain
6	chr1:220225800-220245800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr1:220227400-220245600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:220227800-220245800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:220229800-220245000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr1:220230000-220245800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr1:220231000-220247600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:220231200-220247800	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr1:220231200-220248600	Strong transcription	Duodenum Mucosa	Duodenum
14	chr1:220232400-220247000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:220232400-220250000	Weak transcription	Small Intestine	intestine
16	chr1:220233200-220245800	Weak transcription	Fetal Heart	heart
17	chr1:220234400-220245800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:220234400-220247600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:220234400-220248000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr1:220234400-220253600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr1:220234600-220245800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr1:220234600-220247600	Strong transcription	Liver	Liver
23	chr1:220235000-220247400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:220235000-220247800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr1:220235200-220245800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr1:220235800-220247800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:220236000-220247400	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr1:220236400-220245600	Weak transcription	Left Ventricle	heart
29	chr1:220236400-220245600	Weak transcription	Lung	lung
30	chr1:220236400-220262800	Weak transcription	Esophagus	oesophagus
31	chr1:220237000-220247000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr1:220237400-220246400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:220237400-220247200	Strong transcription	GM12878-XiMat	blood
34	chr1:220237800-220244600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:220238000-220244800	Weak transcription	HSMMtube	muscle
36	chr1:220238000-220245000	Weak transcription	Brain Hippocampus Middle	brain
37	chr1:220238000-220245400	Weak transcription	Ovary	ovary
38	chr1:220238000-220262800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr1:220238000-220267400	Weak transcription	Spleen	Spleen
40	chr1:220238200-220262800	Weak transcription	Gastric	stomach
41	chr1:220238800-220245800	Weak transcription	Brain Angular Gyrus	brain
42	chr1:220239200-220247400	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr1:220239400-220245600	Weak transcription	Colonic Mucosa	Colon
44	chr1:220239400-220245600	Weak transcription	Thymus	Thymus
45	chr1:220239400-220246400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr1:220239400-220262000	Weak transcription	Brain Germinal Matrix	brain
47	chr1:220239600-220245800	Weak transcription	Primary hematopoietic stem cells	blood
48	chr1:220239600-220245800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr1:220239600-220248000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr1:220239600-220255200	Weak transcription	Placenta Amnion	Placenta Amnion

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