Variant report

Variant	rs56181000
Chromosome Location	chr4:166019497-166019498
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	chr4:166008810..166011207-chr4:166017239..166019604,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs13114950	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34022823	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67556835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72699521	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026152	chr4:165622244-166027447	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv537336	chr4:165622244-166027447	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1022210	chr4:165792630-166251612	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv537337	chr4:165792630-166251612	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv1021905	chr4:165852926-166212878	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv533191	chr4:165879671-166171638	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	esv1835468	chr4:165969625-166023258	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	n/a
8	esv1840053	chr4:165969625-166023258	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	n/a
9	nsv881168	chr4:165975122-166196438	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:165990800-166026600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:165994600-166032800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr4:165995400-166019600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr4:165996000-166019800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:165996000-166033000	Weak transcription	Thymus	Thymus
6	chr4:165996800-166032600	Weak transcription	Hela-S3	cervix
7	chr4:165997800-166032400	Weak transcription	Fetal Brain Male	brain
8	chr4:165999000-166022800	Weak transcription	HUVEC	blood vessel
9	chr4:165999000-166023000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr4:165999200-166020600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr4:165999400-166033200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr4:165999600-166033000	Weak transcription	Osteobl	bone
13	chr4:166000600-166032800	Weak transcription	NHDF-Ad	bronchial
14	chr4:166001200-166020600	Weak transcription	Fetal Heart	heart
15	chr4:166005000-166023400	Strong transcription	Fetal Stomach	stomach
16	chr4:166005000-166023600	Strong transcription	Ovary	ovary
17	chr4:166005200-166023200	Strong transcription	Fetal Intestine Small	intestine
18	chr4:166005200-166024200	Strong transcription	Liver	Liver
19	chr4:166005800-166026000	Weak transcription	Psoas Muscle	Psoas
20	chr4:166005800-166033000	Weak transcription	NH-A	brain
21	chr4:166007200-166033000	Weak transcription	A549	lung
22	chr4:166007400-166032600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr4:166007600-166023000	Weak transcription	K562	blood
24	chr4:166007600-166033000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr4:166007600-166033000	Weak transcription	HSMMtube	muscle
26	chr4:166007800-166020600	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr4:166007800-166020600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr4:166008000-166032600	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr4:166008600-166032600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr4:166008600-166032600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr4:166008600-166033000	Weak transcription	Colonic Mucosa	Colon
32	chr4:166008600-166033200	Weak transcription	Gastric	stomach
33	chr4:166008800-166020400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr4:166009200-166033400	Weak transcription	Small Intestine	intestine
35	chr4:166009600-166020200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr4:166009600-166021000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr4:166009800-166019600	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr4:166009800-166019600	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr4:166009800-166019600	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr4:166009800-166020400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr4:166009800-166020400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr4:166009800-166020600	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr4:166009800-166020800	Weak transcription	GM12878-XiMat	blood
44	chr4:166009800-166022600	Weak transcription	Brain Germinal Matrix	brain
45	chr4:166009800-166023000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr4:166009800-166031200	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr4:166009800-166032600	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr4:166009800-166032800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr4:166009800-166032800	Weak transcription	HMEC	breast
50	chr4:166009800-166033000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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