Variant report

Variant	rs2577135
Chromosome Location	chr1:220249789-220249790
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs1611863	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2577154	0.89[AMR][1000 genomes]
rs2647471	0.83[AFR][1000 genomes]
rs2647472	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2789785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7524161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs904327	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:112 , 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	chr1:220220600-220262400	Weak transcription	Pancreas	Pancrea
3	chr1:220220600-220262400	Weak transcription	NHLF	lung
4	chr1:220220800-220261600	Weak transcription	Fetal Brain Male	brain
5	chr1:220232400-220250000	Weak transcription	Small Intestine	intestine
6	chr1:220234400-220253600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr1:220236400-220262800	Weak transcription	Esophagus	oesophagus
8	chr1:220238000-220262800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:220238000-220267400	Weak transcription	Spleen	Spleen
10	chr1:220238200-220262800	Weak transcription	Gastric	stomach
11	chr1:220239400-220262000	Weak transcription	Brain Germinal Matrix	brain
12	chr1:220239600-220255200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr1:220239600-220261600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr1:220239600-220262400	Weak transcription	Right Ventricle	heart
15	chr1:220241200-220256800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:220241200-220258200	Weak transcription	Hela-S3	cervix
17	chr1:220241200-220261800	Weak transcription	A549	lung
18	chr1:220241200-220262000	Weak transcription	HMEC	breast
19	chr1:220241200-220262400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:220241200-220262400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr1:220241400-220262400	Weak transcription	NHEK	skin
22	chr1:220241600-220253000	Strong transcription	Fetal Intestine Small	intestine
23	chr1:220242600-220262800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:220243800-220262400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr1:220245800-220251800	Strong transcription	Fetal Lung	lung
26	chr1:220246200-220262000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:220246400-220250800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:220246400-220251400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:220246400-220255000	Weak transcription	Brain Angular Gyrus	brain
30	chr1:220246400-220255000	Weak transcription	HSMMtube	muscle
31	chr1:220246400-220256000	Weak transcription	Fetal Kidney	kidney
32	chr1:220246400-220261600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr1:220246400-220261800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr1:220246400-220262000	Weak transcription	Brain Hippocampus Middle	brain
35	chr1:220246400-220262400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr1:220246400-220262400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr1:220246400-220262400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr1:220246400-220262400	Weak transcription	Brain Anterior Caudate	brain
39	chr1:220246400-220262400	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr1:220246400-220262400	Weak transcription	Brain Substantia Nigra	brain
41	chr1:220246400-220262400	Weak transcription	Fetal Brain Female	brain
42	chr1:220246600-220251000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr1:220246600-220251000	Weak transcription	Colon Smooth Muscle	Colon
44	chr1:220246600-220253600	Weak transcription	Primary B cells from cord blood	blood
45	chr1:220246600-220262400	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr1:220246600-220262400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr1:220246600-220262400	Weak transcription	Colonic Mucosa	Colon
48	chr1:220246800-220250200	Weak transcription	HUVEC	blood vessel
49	chr1:220246800-220250800	Weak transcription	Fetal Intestine Large	intestine
50	chr1:220246800-220262400	Weak transcription	Primary hematopoietic stem cells	blood

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