Variant report

Variant	rs34133579
Chromosome Location	chr4:110454861-110454862
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10016533	0.90[EUR][1000 genomes]
rs10025781	0.87[EUR][1000 genomes]
rs10452150	0.93[EUR][1000 genomes]
rs13110999	0.93[EUR][1000 genomes]
rs13122093	0.93[EUR][1000 genomes]
rs13132816	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13133491	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13140373	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13147210	0.80[EUR][1000 genomes]
rs13151464	0.93[EUR][1000 genomes]
rs13151516	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs15821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs33911248	0.93[EUR][1000 genomes]
rs34132975	0.93[EUR][1000 genomes]
rs34320670	0.84[EUR][1000 genomes]
rs34368920	0.85[EUR][1000 genomes]
rs34473874	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34502105	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34660885	0.84[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs34710885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34727629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34813537	0.93[EUR][1000 genomes]
rs34851707	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34861128	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34953524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35199349	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35313553	0.84[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs35329136	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35450490	0.84[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs35598950	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35699695	0.93[EUR][1000 genomes]
rs35865655	0.87[EUR][1000 genomes]
rs35866656	0.93[EUR][1000 genomes]
rs35950484	0.84[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs36102563	0.93[EUR][1000 genomes]
rs41277037	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6533434	0.85[EUR][1000 genomes]
rs66493839	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67066117	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67727505	0.89[EUR][1000 genomes]
rs67923759	0.84[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs6828719	0.87[EUR][1000 genomes]
rs6834685	0.85[EUR][1000 genomes]
rs71603034	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71603035	0.87[EUR][1000 genomes]
rs72672698	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7694710	0.86[EUR][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	nsv461613	chr4:109922064-110593460	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv595129	chr4:109922064-110593460	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3349784	chr4:110348873-110723163	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv525385	chr4:110395146-110466413	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110393800-110469200	Weak transcription	Stomach Mucosa	stomach
2	chr4:110400200-110455400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr4:110409400-110467800	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr4:110411400-110464600	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr4:110412400-110465400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr4:110412400-110466200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr4:110412400-110470600	Strong transcription	Fetal Thymus	thymus
8	chr4:110417000-110455800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr4:110420200-110466400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:110423400-110480800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr4:110424600-110457000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:110424800-110456000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr4:110424800-110456600	Strong transcription	Osteobl	bone
14	chr4:110424800-110468400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr4:110425000-110463800	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr4:110425200-110468000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:110425400-110464800	Strong transcription	Duodenum Mucosa	Duodenum
18	chr4:110426600-110456800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr4:110427400-110464800	Strong transcription	Primary B cells from peripheral blood	blood
20	chr4:110428200-110464600	Strong transcription	Duodenum Smooth Muscle	Duodenum
21	chr4:110430400-110456600	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr4:110433400-110465800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr4:110434600-110456200	Strong transcription	NH-A	brain
24	chr4:110434600-110456400	Strong transcription	Placenta	Placenta
25	chr4:110434800-110469600	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr4:110435000-110456400	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr4:110435000-110462600	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr4:110435000-110468400	Strong transcription	Liver	Liver
29	chr4:110436800-110468000	Strong transcription	HSMM	muscle
30	chr4:110437600-110457200	Strong transcription	Fetal Lung	lung
31	chr4:110437600-110462600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:110442600-110455200	Strong transcription	Primary hematopoietic stem cells	blood
33	chr4:110442600-110457200	Strong transcription	Fetal Intestine Large	intestine
34	chr4:110443800-110457000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr4:110445200-110463000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr4:110445400-110456600	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr4:110445400-110456600	Strong transcription	Colon Smooth Muscle	Colon
38	chr4:110445400-110456600	Strong transcription	Dnd41	blood
39	chr4:110445400-110461800	Strong transcription	NHDF-Ad	bronchial
40	chr4:110445600-110456400	Strong transcription	Primary B cells from cord blood	blood
41	chr4:110445600-110456800	Strong transcription	HUVEC	blood vessel
42	chr4:110445600-110457000	Strong transcription	Stomach Smooth Muscle	stomach
43	chr4:110445800-110457000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr4:110445800-110467800	Strong transcription	Adipose Nuclei	Adipose
45	chr4:110446000-110463000	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr4:110446000-110464800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr4:110446000-110465800	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr4:110446400-110456600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr4:110446400-110464600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr4:110446600-110456400	Strong transcription	H1 Cell Line	embryonic stem cell

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