Variant report

Variant	rs59989498
Chromosome Location	chr6:144923881-144923882
allele	C/T
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]
rs55994018	1.00[EUR][1000 genomes]
rs57539304	1.00[EUR][1000 genomes]
rs57946365	1.00[EUR][1000 genomes]
rs58299443	1.00[EUR][1000 genomes]
rs58887858	1.00[EUR][1000 genomes]
rs6915534	1.00[EUR][1000 genomes]
rs73591939	1.00[EUR][1000 genomes]
rs73591971	1.00[EUR][1000 genomes]
rs73594582	1.00[EUR][1000 genomes]
rs73594595	1.00[EUR][1000 genomes]
rs73595585	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73596513	1.00[EUR][1000 genomes]
rs73599519	1.00[EUR][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	nsv1015228	chr6:144780458-144989321	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv538462	chr6:144780458-144989321	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1016747	chr6:144917411-145599874	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144881800-144937800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:144885800-144943400	Weak transcription	Ovary	ovary
3	chr6:144899600-144931800	Weak transcription	Esophagus	oesophagus
4	chr6:144904400-144931600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:144904400-144931800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr6:144904600-144939800	Weak transcription	HSMMtube	muscle
7	chr6:144904800-144929000	Weak transcription	Left Ventricle	heart
8	chr6:144904800-144935400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:144908800-144947400	Weak transcription	HUVEC	blood vessel
10	chr6:144909400-144931000	Weak transcription	Aorta	Aorta
11	chr6:144910400-144924600	Weak transcription	Fetal Kidney	kidney
12	chr6:144914800-144929400	Weak transcription	Fetal Thymus	thymus
13	chr6:144914800-144937800	Weak transcription	HSMM	muscle
14	chr6:144914800-144960000	Weak transcription	Lung	lung
15	chr6:144915000-144934400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:144919600-144928000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr6:144921000-144928800	Weak transcription	HepG2	liver
18	chr6:144921800-144926200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr6:144922000-144928200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr6:144922000-144928800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr6:144922000-144929000	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr6:144922200-144925400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr6:144922200-144927200	Weak transcription	Fetal Heart	heart
24	chr6:144922200-144927800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr6:144922200-144938400	Weak transcription	Liver	Liver
26	chr6:144922400-144929000	Weak transcription	Adipose Nuclei	Adipose
27	chr6:144922400-144929400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr6:144922600-144925400	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr6:144922600-144925600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr6:144922600-144926400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr6:144922600-144928800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:144922600-144929800	Weak transcription	Fetal Lung	lung
33	chr6:144922600-144938600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr6:144922800-144925200	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr6:144922800-144925400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr6:144922800-144929000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr6:144922800-144939000	Weak transcription	Fetal Muscle Leg	muscle
38	chr6:144923000-144924600	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr6:144923000-144925200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr6:144923000-144928800	Weak transcription	Primary hematopoietic stem cells	blood
41	chr6:144923000-144929000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr6:144923000-144938000	Weak transcription	NHDF-Ad	bronchial
43	chr6:144923200-144924400	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr6:144923200-144924600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr6:144923200-144928800	Weak transcription	Primary B cells from peripheral blood	blood
46	chr6:144923400-144924000	Enhancers	Thymus	Thymus
47	chr6:144923400-144924800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr6:144923400-144925000	Enhancers	Primary T cells from cord blood	blood
49	chr6:144923400-144925400	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr6:144923400-144927400	Weak transcription	Primary B cells from cord blood	blood

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