Variant report

Variant	rs7680129
Chromosome Location	chr4:110485023-110485024
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17040540	0.82[AMR][1000 genomes]
rs2062969	1.00[EUR][1000 genomes]
rs2062970	1.00[EUR][1000 genomes]
rs28464608	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28621449	1.00[EUR][1000 genomes]
rs59352649	1.00[EUR][1000 genomes]
rs6533435	1.00[EUR][1000 genomes]
rs6533436	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6812670	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6830772	1.00[EUR][1000 genomes]
rs6831048	0.82[AMR][1000 genomes]
rs7692819	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9884194	0.84[AMR][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	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

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110482200-110485200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
2	chr4:110482400-110485200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr4:110482800-110494400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:110482800-110495400	Weak transcription	Stomach Mucosa	stomach
5	chr4:110483000-110498200	Weak transcription	HMEC	breast
6	chr4:110483200-110494400	Weak transcription	NHLF	lung
7	chr4:110483400-110485600	Enhancers	Primary T cells fromperipheralblood	blood
8	chr4:110483400-110486000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr4:110483400-110486200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr4:110483400-110487000	Weak transcription	NHDF-Ad	bronchial
11	chr4:110483400-110490000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:110483400-110494000	Weak transcription	HSMM	muscle
13	chr4:110484000-110486200	Weak transcription	Primary B cells from cord blood	blood
14	chr4:110484000-110486800	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr4:110484000-110492400	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr4:110484000-110496000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr4:110484200-110486200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr4:110484200-110493600	Weak transcription	NHEK	skin
19	chr4:110484200-110495800	Weak transcription	Fetal Thymus	thymus
20	chr4:110484200-110509400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:110484400-110485400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr4:110484400-110486200	Weak transcription	HUVEC	blood vessel
23	chr4:110484400-110487800	Weak transcription	Primary B cells from peripheral blood	blood
24	chr4:110484400-110492600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr4:110484400-110495400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr4:110484400-110495800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr4:110484400-110497200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr4:110484400-110509400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:110484400-110509400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr4:110484400-110509400	Weak transcription	Thymus	Thymus
31	chr4:110484600-110485800	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr4:110484600-110490200	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr4:110484800-110485600	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr4:110484800-110486400	Enhancers	Primary T cells from cord blood	blood
35	chr4:110484800-110486400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr4:110484800-110491000	Weak transcription	GM12878-XiMat	blood
37	chr4:110484800-110495600	Weak transcription	Dnd41	blood
38	chr4:110485000-110485400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr4:110485000-110485600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr4:110485000-110495400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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