Variant report

Variant	rs595769
Chromosome Location	chr1:184782672-184782673
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:184781856..184783372-chr1:184939868..184941552,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1827986	0.88[EUR][1000 genomes]
rs338561	0.87[EUR][1000 genomes]
rs338563	0.87[EUR][1000 genomes]
rs338564	0.89[EUR][1000 genomes]
rs338565	0.89[EUR][1000 genomes]
rs338567	0.90[EUR][1000 genomes]
rs338568	0.90[EUR][1000 genomes]
rs338571	0.89[EUR][1000 genomes]
rs338572	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs481215	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs484847	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs512642	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs520605	0.91[ASN][1000 genomes]
rs521366	0.91[ASN][1000 genomes]
rs533853	0.89[ASN][1000 genomes]
rs539362	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs543912	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs549088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs556163	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs641337	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv917126	chr1:184655366-184902273	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv832048	chr1:184660146-184858802	Flanking Active TSS Enhancers Weak transcription 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 target site	13 gene(s)	inside rSNPs	diseases
5	nsv508677	chr1:184778620-184825302	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184756800-184794000	Weak transcription	Thymus	Thymus
2	chr1:184762000-184787800	Weak transcription	Spleen	Spleen
3	chr1:184762400-184789400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr1:184762600-184792800	Weak transcription	Colonic Mucosa	Colon
5	chr1:184763000-184782800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:184768000-184809200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr1:184770800-184787000	Weak transcription	Gastric	stomach
8	chr1:184771800-184782800	Weak transcription	NHLF	lung
9	chr1:184772000-184792000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr1:184772400-184801800	Weak transcription	Primary T cells from cord blood	blood
11	chr1:184772800-184790600	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr1:184773200-184809400	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr1:184775200-184787400	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr1:184775400-184783000	Weak transcription	NHDF-Ad	bronchial
15	chr1:184775400-184787800	Weak transcription	Esophagus	oesophagus
16	chr1:184775400-184791600	Weak transcription	Stomach Mucosa	stomach
17	chr1:184775600-184796800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:184775800-184784200	Weak transcription	Fetal Heart	heart
19	chr1:184775800-184794000	Weak transcription	Primary B cells from peripheral blood	blood
20	chr1:184776600-184782800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:184777000-184792200	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr1:184777400-184791600	Weak transcription	Pancreas	Pancrea
23	chr1:184777600-184786800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr1:184777600-184787600	Weak transcription	Lung	lung
25	chr1:184777800-184782800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:184777800-184787600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr1:184778000-184784400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr1:184778000-184787600	Weak transcription	Aorta	Aorta
29	chr1:184778000-184789400	Weak transcription	K562	blood
30	chr1:184778000-184791400	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr1:184778200-184787200	Weak transcription	Fetal Muscle Trunk	muscle
32	chr1:184779600-184783000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr1:184779800-184783200	Enhancers	Colon Smooth Muscle	Colon
34	chr1:184780000-184782800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:184780400-184782800	Weak transcription	Adipose Nuclei	Adipose
36	chr1:184780400-184787400	Weak transcription	Stomach Smooth Muscle	stomach
37	chr1:184780400-184787600	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr1:184780400-184789400	Weak transcription	Fetal Stomach	stomach
39	chr1:184781200-184783400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
40	chr1:184781200-184785400	Weak transcription	Right Ventricle	heart
41	chr1:184781200-184793400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr1:184781400-184783200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
43	chr1:184781400-184786800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr1:184781400-184790000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:184781400-184792000	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr1:184781600-184783200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
47	chr1:184781600-184785200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
48	chr1:184781600-184790800	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr1:184781600-184793400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr1:184781800-184783200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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