Variant report

Variant	rs72674817
Chromosome Location	chr4:110544283-110544284
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10005056	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11942332	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12640500	0.81[EUR][1000 genomes]
rs3212153	0.81[ASN][1000 genomes]
rs55814811	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56218711	0.81[EUR][1000 genomes]
rs72674835	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs739733	0.83[ASN][1000 genomes]
rs7692056	0.81[EUR][1000 genomes]
rs7694402	0.81[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	esv3419480	chr4:110521397-110549622	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110531000-110546000	Weak transcription	Esophagus	oesophagus
2	chr4:110531000-110550600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:110531400-110546000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr4:110531400-110546000	Weak transcription	Spleen	Spleen
5	chr4:110531600-110545000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:110531600-110546000	Weak transcription	Thymus	Thymus
7	chr4:110531600-110549600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr4:110532600-110545800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr4:110532800-110546000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr4:110533000-110573000	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr4:110533400-110552800	Weak transcription	Primary B cells from cord blood	blood
12	chr4:110534800-110547000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr4:110536000-110545800	Weak transcription	Dnd41	blood
14	chr4:110536000-110552800	Weak transcription	Primary B cells from peripheral blood	blood
15	chr4:110536200-110546000	Weak transcription	Aorta	Aorta
16	chr4:110536400-110552800	Weak transcription	Adipose Nuclei	Adipose
17	chr4:110536400-110552800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr4:110537400-110547200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:110538000-110546000	Weak transcription	Gastric	stomach
20	chr4:110538400-110552000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr4:110538600-110545800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr4:110538600-110546000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr4:110538600-110546000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr4:110538800-110544600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr4:110538800-110546000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr4:110539400-110544600	Weak transcription	Fetal Muscle Leg	muscle
27	chr4:110539400-110546000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr4:110539400-110549200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr4:110539400-110550800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr4:110540000-110546000	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr4:110541400-110546000	Weak transcription	Pancreas	Pancrea
32	chr4:110543000-110546000	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr4:110543600-110546200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr4:110543800-110544400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr4:110543800-110545200	Strong transcription	Fetal Thymus	thymus
36	chr4:110543800-110546000	Strong transcription	Primary T cells from cord blood	blood
37	chr4:110543800-110546000	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr4:110544000-110544400	Active TSS	Duodenum Mucosa	Duodenum
39	chr4:110544000-110545200	Enhancers	Fetal Intestine Small	intestine
40	chr4:110544200-110545000	Enhancers	Fetal Intestine Large	intestine
41	chr4:110544200-110545200	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr4:110544200-110545400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr4:110544200-110552800	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr4:110544200-110552800	Weak transcription	Ovary	ovary

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