Variant report

Variant	rs1611863
Chromosome Location	chr1:220243131-220243132
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:220241340..220244207-chr1:220246166..220247870,2	K562	blood:

Variant related genes	Relation type
ENSG00000162813	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2577135	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2577154	0.89[AMR][1000 genomes]
rs2647471	0.80[AFR][1000 genomes]
rs2647472	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2789785	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7524161	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs904327	0.82[AFR][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:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220220400-220243600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr1:220220400-220257600	Weak transcription	Stomach Mucosa	stomach
3	chr1:220220600-220245800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr1:220220600-220262400	Weak transcription	Pancreas	Pancrea
5	chr1:220220600-220262400	Weak transcription	NHLF	lung
6	chr1:220220800-220261600	Weak transcription	Fetal Brain Male	brain
7	chr1:220225800-220245800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:220227400-220245600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:220227800-220245800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:220229800-220245000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr1:220230000-220245800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr1:220231000-220247600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:220231200-220243200	Strong transcription	Fetal Intestine Large	intestine
14	chr1:220231200-220247800	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr1:220231200-220248600	Strong transcription	Duodenum Mucosa	Duodenum
16	chr1:220231400-220243200	Strong transcription	Adipose Nuclei	Adipose
17	chr1:220232400-220247000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:220232400-220250000	Weak transcription	Small Intestine	intestine
19	chr1:220233200-220245800	Weak transcription	Fetal Heart	heart
20	chr1:220234400-220245800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:220234400-220247600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:220234400-220248000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr1:220234400-220253600	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr1:220234600-220245800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr1:220234600-220247600	Strong transcription	Liver	Liver
26	chr1:220234800-220243200	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr1:220235000-220247400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:220235000-220247800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:220235200-220245800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr1:220235800-220247800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:220236000-220243400	Strong transcription	Fetal Thymus	thymus
32	chr1:220236000-220247400	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr1:220236400-220245600	Weak transcription	Left Ventricle	heart
34	chr1:220236400-220245600	Weak transcription	Lung	lung
35	chr1:220236400-220262800	Weak transcription	Esophagus	oesophagus
36	chr1:220237000-220247000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr1:220237400-220243200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr1:220237400-220246400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr1:220237400-220247200	Strong transcription	GM12878-XiMat	blood
40	chr1:220237800-220244600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:220238000-220244800	Weak transcription	HSMMtube	muscle
42	chr1:220238000-220245000	Weak transcription	Brain Hippocampus Middle	brain
43	chr1:220238000-220245400	Weak transcription	Ovary	ovary
44	chr1:220238000-220262800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr1:220238000-220267400	Weak transcription	Spleen	Spleen
46	chr1:220238200-220244400	Weak transcription	Aorta	Aorta
47	chr1:220238200-220262800	Weak transcription	Gastric	stomach
48	chr1:220238800-220245800	Weak transcription	Brain Angular Gyrus	brain
49	chr1:220239200-220247400	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr1:220239400-220244400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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