Variant report

Variant	rs57055851
Chromosome Location	chr6:160847311-160847312
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:160847266..160849936-chr6:160858679..160861439,2	K562	blood:
2	chr6:160845181..160849132-chr6:160849352..160851032,3	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs16891623	1.00[EUR][1000 genomes]
rs41265934	0.91[EUR][1000 genomes]
rs56353823	0.91[EUR][1000 genomes]
rs56397424	0.91[EUR][1000 genomes]
rs57329242	0.91[EUR][1000 genomes]
rs58260600	0.91[EUR][1000 genomes]
rs58364041	1.00[EUR][1000 genomes]
rs59084720	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60309612	0.91[EUR][1000 genomes]
rs61745804	0.91[EUR][1000 genomes]
rs73592951	1.00[EUR][1000 genomes]
rs73592959	1.00[EUR][1000 genomes]
rs73592961	0.92[EUR][1000 genomes]
rs73592964	1.00[EUR][1000 genomes]
rs73592965	1.00[EUR][1000 genomes]
rs73592974	1.00[EUR][1000 genomes]
rs73592977	1.00[EUR][1000 genomes]
rs73592985	0.91[EUR][1000 genomes]
rs73592999	0.91[EUR][1000 genomes]
rs73593002	0.91[EUR][1000 genomes]
rs73594805	0.91[EUR][1000 genomes]
rs73594810	0.91[EUR][1000 genomes]
rs73594816	0.91[EUR][1000 genomes]
rs73594822	0.91[EUR][1000 genomes]
rs73594826	0.91[EUR][1000 genomes]
rs73594829	0.91[EUR][1000 genomes]
rs73594833	0.91[EUR][1000 genomes]
rs73594835	0.91[EUR][1000 genomes]
rs73594842	0.91[EUR][1000 genomes]
rs73782576	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8187724	1.00[EUR][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	esv2758089	chr6:160372244-161234665	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv2759484	chr6:160372244-161234665	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv35098	chr6:160422589-161070870	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv2757197	chr6:160432331-161070870	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv818463	chr6:160435569-161025547	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv1030746	chr6:160592321-160867031	Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv538493	chr6:160592321-160867031	Weak transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1030171	chr6:160648469-161091864	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv886809	chr6:160670494-160979275	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
10	nsv886810	chr6:160700769-160897872	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
11	nsv886811	chr6:160700769-161070990	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
12	nsv886812	chr6:160706661-161024848	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:160818600-160876800	Weak transcription	Esophagus	oesophagus
2	chr6:160830000-160847800	Weak transcription	Psoas Muscle	Psoas
3	chr6:160835600-160848600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr6:160839000-160848000	Weak transcription	Placenta	Placenta
5	chr6:160842200-160848000	Weak transcription	Right Atrium	heart
6	chr6:160842400-160847800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:160842400-160847800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr6:160842600-160847800	Weak transcription	Liver	Liver
9	chr6:160842600-160848200	Weak transcription	Fetal Lung	lung
10	chr6:160842800-160850200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr6:160843200-160847600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:160843200-160847800	Weak transcription	Adipose Nuclei	Adipose
13	chr6:160843400-160847800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr6:160843400-160848200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr6:160843400-160848400	Weak transcription	Fetal Stomach	stomach
16	chr6:160843600-160847600	Weak transcription	Fetal Muscle Leg	muscle
17	chr6:160843800-160848200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr6:160843800-160848400	Weak transcription	Colon Smooth Muscle	Colon
19	chr6:160843800-160851400	Weak transcription	Fetal Brain Male	brain
20	chr6:160845400-160850000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr6:160845600-160848400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr6:160845800-160848000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr6:160846200-160847400	Weak transcription	HMEC	breast
24	chr6:160846200-160848400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr6:160846400-160848400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr6:160846400-160849400	Weak transcription	NHEK	skin
27	chr6:160846800-160847400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr6:160846800-160847800	Strong transcription	Skeletal Muscle Male	skeletal muscle
29	chr6:160846800-160848000	Strong transcription	HepG2	liver
30	chr6:160847000-160847400	Weak transcription	Ovary	ovary
31	chr6:160847000-160847600	Enhancers	Aorta	Aorta
32	chr6:160847000-160848000	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr6:160847000-160848800	Strong transcription	A549	lung
34	chr6:160847200-160847600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr6:160847200-160847800	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr6:160847200-160847800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr6:160847200-160847800	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
38	chr6:160847200-160848000	Bivalent Enhancer	Primary T cells from cord blood	blood
39	chr6:160847200-160848000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr6:160847200-160848000	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr6:160847200-160848000	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr6:160847200-160848200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr6:160847200-160848400	Weak transcription	Fetal Heart	heart

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