Variant report

Variant	rs56133938
Chromosome Location	chr6:2158243-2158244
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17134767	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2007482	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3800156	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3800162	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3800166	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs761390	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs882399	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs932445	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530548	chr6:1441421-2351608	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv931941	chr6:1768439-2246781	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv531295	chr6:1773436-2724986	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
4	nsv522608	chr6:2032259-2203888	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1025814	chr6:2064629-2308518	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
6	nsv538098	chr6:2064629-2308518	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
7	nsv1030181	chr6:2071210-2308657	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
8	nsv538099	chr6:2071210-2308657	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
9	nsv883387	chr6:2086679-2176239	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv883388	chr6:2093432-2514911	Strong transcription Enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
11	nsv883389	chr6:2093432-2776303	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases
12	nsv830573	chr6:2120985-2263646	Bivalent Enhancer Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:2128000-2160800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:2142600-2161000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr6:2143600-2161600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr6:2143600-2161600	Weak transcription	HepG2	liver
5	chr6:2149200-2159000	Weak transcription	Gastric	stomach
6	chr6:2156000-2158400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr6:2156000-2161800	Weak transcription	Small Intestine	intestine
8	chr6:2157000-2159000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr6:2157200-2158400	Enhancers	HSMM	muscle
10	chr6:2157200-2158600	Enhancers	Adipose Nuclei	Adipose
11	chr6:2157200-2158600	Enhancers	NHLF	lung
12	chr6:2157200-2159200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:2157200-2159200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:2157200-2159200	Enhancers	HMEC	breast
15	chr6:2157200-2159200	Enhancers	NHDF-Ad	bronchial
16	chr6:2157400-2158400	Enhancers	NHEK	skin
17	chr6:2157400-2158800	Enhancers	Primary T cells from cord blood	blood
18	chr6:2157400-2159000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:2157400-2159000	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr6:2157400-2159200	Enhancers	Hela-S3	cervix
21	chr6:2157400-2159600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:2157600-2158400	Flanking Active TSS	GM12878-XiMat	blood
23	chr6:2157600-2158400	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr6:2157600-2159000	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr6:2157600-2159200	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr6:2157600-2159200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr6:2157600-2159200	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr6:2157600-2159200	Enhancers	Dnd41	blood
29	chr6:2157600-2164400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr6:2157800-2158400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr6:2157800-2159000	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr6:2157800-2159400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr6:2157800-2161800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr6:2158000-2158400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr6:2158000-2159200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr6:2158000-2159400	Enhancers	Osteobl	bone
37	chr6:2158000-2160200	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr6:2158000-2161400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr6:2158000-2161800	Weak transcription	NH-A	brain
40	chr6:2158000-2162000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr6:2158200-2158400	Enhancers	Thymus	Thymus
42	chr6:2158200-2158600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr6:2158200-2158800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr6:2158200-2159000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr6:2158200-2159000	Weak transcription	Left Ventricle	heart
46	chr6:2158200-2161800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr6:2158200-2161800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr6:2158200-2161800	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr6:2158200-2161800	Weak transcription	HSMMtube	muscle
50	chr6:2158200-2162000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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