Variant report

Variant	rs60593456
Chromosome Location	chr6:144696740-144696741
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs55842866	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57632768	1.00[AMR][1000 genomes]
rs57945244	1.00[AMR][1000 genomes]
rs58244219	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58476463	1.00[AMR][1000 genomes]
rs58595212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60800156	1.00[AMR][1000 genomes]
rs61128349	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61224948	1.00[AMR][1000 genomes]
rs73780530	1.00[AMR][1000 genomes]
rs73780542	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73780543	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73780545	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73780546	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7766619	0.85[AFR][1000 genomes];1.00[AMR][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	nsv830832	chr6:144572378-144759023	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv2422260	chr6:144574591-144731630	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1031253	chr6:144599055-144883013	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv538461	chr6:144599055-144883013	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144673400-144699600	Weak transcription	Fetal Stomach	stomach
2	chr6:144681800-144699600	Weak transcription	Esophagus	oesophagus
3	chr6:144682000-144698200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr6:144683600-144699600	Weak transcription	Ovary	ovary
5	chr6:144683800-144704600	Weak transcription	Aorta	Aorta
6	chr6:144684000-144698200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr6:144684000-144698200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr6:144684800-144699200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr6:144686200-144696800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr6:144686200-144696800	Weak transcription	Pancreas	Pancrea
11	chr6:144686200-144696800	Weak transcription	Psoas Muscle	Psoas
12	chr6:144686200-144696800	Weak transcription	Spleen	Spleen
13	chr6:144686400-144698200	Weak transcription	HSMM	muscle
14	chr6:144686600-144699600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr6:144686600-144700800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr6:144687000-144698000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:144688000-144698400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:144688000-144698600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr6:144688200-144698600	Weak transcription	Adipose Nuclei	Adipose
20	chr6:144690800-144712800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr6:144691600-144713800	Weak transcription	Thymus	Thymus
22	chr6:144692000-144696800	Weak transcription	Left Ventricle	heart
23	chr6:144692200-144696800	Weak transcription	Gastric	stomach
24	chr6:144692200-144696800	Weak transcription	Lung	lung
25	chr6:144692200-144697000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr6:144692200-144698200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr6:144692200-144698200	Weak transcription	Primary T cells from cord blood	blood
28	chr6:144692200-144698200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr6:144692200-144698600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr6:144692200-144698600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr6:144692200-144698600	Weak transcription	Fetal Muscle Leg	muscle
32	chr6:144692200-144701600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr6:144692400-144696800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr6:144692400-144702000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr6:144692400-144702200	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr6:144693200-144699800	Weak transcription	GM12878-XiMat	blood
37	chr6:144693600-144698400	Weak transcription	NHLF	lung
38	chr6:144694200-144698400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr6:144694600-144698600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr6:144694800-144698400	Weak transcription	Fetal Thymus	thymus
41	chr6:144694800-144698400	Weak transcription	NHDF-Ad	bronchial
42	chr6:144694800-144698600	Weak transcription	HMEC	breast
43	chr6:144694800-144699400	Weak transcription	NHEK	skin
44	chr6:144695000-144700000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr6:144695200-144698400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr6:144695600-144697400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr6:144695600-144698800	Enhancers	Primary T cells fromperipheralblood	blood
48	chr6:144695600-144699800	Weak transcription	Primary B cells from peripheral blood	blood
49	chr6:144695800-144697200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr6:144696000-144699000	Enhancers	Primary T helper cells fromperipheralblood	blood

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