Variant report

Variant	rs2495218
Chromosome Location	chr6:37918799-37918800
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2645095	1.00[AMR][1000 genomes]
rs2645097	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2645109	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2645112	0.89[AFR][1000 genomes]
rs2645119	0.84[AFR][1000 genomes]
rs3852217	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6458034	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription 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	19 gene(s)	inside rSNPs	diseases
2	nsv1024016	chr6:37567651-37981590	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1017051	chr6:37789341-38084719	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv538203	chr6:37789341-38084719	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1018711	chr6:37813397-37981590	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1020625	chr6:37833591-38155622	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv602956	chr6:37909084-37986489	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37873400-37929200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:37880200-37930000	Weak transcription	Thymus	Thymus
3	chr6:37887600-37933200	Weak transcription	NHDF-Ad	bronchial
4	chr6:37892600-37928800	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr6:37896800-37929000	Weak transcription	Esophagus	oesophagus
6	chr6:37904800-37920400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr6:37904800-37920400	Weak transcription	Small Intestine	intestine
8	chr6:37904800-37933400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:37905000-37919600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr6:37905800-37924000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr6:37907000-37921200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr6:37907000-37926600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:37908600-37920400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr6:37910000-37922600	Weak transcription	Right Ventricle	heart
15	chr6:37911000-37919600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:37911000-37933200	Weak transcription	NHEK	skin
17	chr6:37911400-37919600	Weak transcription	Primary B cells from peripheral blood	blood
18	chr6:37911400-37919800	Weak transcription	Adipose Nuclei	Adipose
19	chr6:37911400-37922600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr6:37911600-37928600	Weak transcription	Lung	lung
21	chr6:37911600-37935400	Weak transcription	Primary B cells from cord blood	blood
22	chr6:37911600-37936200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr6:37911800-37919600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr6:37911800-37920400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr6:37912800-37922600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr6:37913400-37922600	Weak transcription	Aorta	Aorta
27	chr6:37913400-37922600	Weak transcription	Pancreas	Pancrea
28	chr6:37913400-37922600	Weak transcription	Right Atrium	heart
29	chr6:37914200-37920400	Weak transcription	Primary T cells from cord blood	blood
30	chr6:37914400-37919800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr6:37914400-37923200	Weak transcription	Brain Anterior Caudate	brain
32	chr6:37914600-37921200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr6:37914600-37923000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr6:37915000-37923400	Weak transcription	Brain Substantia Nigra	brain
35	chr6:37915800-37921200	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr6:37916200-37920000	Weak transcription	Liver	Liver
37	chr6:37916600-37923400	Weak transcription	Colon Smooth Muscle	Colon
38	chr6:37916800-37920800	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr6:37916800-37922600	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr6:37917000-37928800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr6:37917400-37919600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr6:37917400-37919600	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr6:37917400-37920400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr6:37917400-37920400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr6:37917600-37919000	Weak transcription	GM12878-XiMat	blood
46	chr6:37917800-37920400	Weak transcription	Psoas Muscle	Psoas
47	chr6:37917800-37920400	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr6:37917800-37922600	Weak transcription	Ovary	ovary
49	chr6:37917800-37928600	Weak transcription	Fetal Intestine Small	intestine
50	chr6:37918000-37920400	Weak transcription	Stomach Mucosa	stomach

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