Variant report

Variant	rs33997846
Chromosome Location	chr6:37916543-37916544
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	chr6:37913945..37916886-chr6:37919030..37920758,2	K562	blood:

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs13198459	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13200310	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13203867	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13207526	0.83[EUR][1000 genomes]
rs13210087	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs13210967	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13211881	0.83[EUR][1000 genomes]
rs13219500	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16890301	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2395689	1.00[EUR][1000 genomes]
rs2453882	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2645096	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2645098	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28385568	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2842499	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2842506	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2842511	0.89[EUR][1000 genomes]
rs2842512	0.85[EUR][1000 genomes]
rs2842513	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2842514	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2842516	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34054102	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34123707	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs34449592	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34618835	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34634043	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34754573	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs35051126	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35202194	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs35248825	0.83[EUR][1000 genomes]
rs35330991	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35379375	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35465740	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35575717	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35653300	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35953900	0.87[EUR][1000 genomes]
rs35955196	0.87[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs36069529	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4394213	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4711518	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55943813	0.94[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs56678832	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6458037	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs6908761	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs6910837	0.87[EUR][1000 genomes]
rs6912250	0.83[EUR][1000 genomes]
rs6916535	0.95[ASN][1000 genomes]
rs6917736	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6918802	0.87[EUR][1000 genomes]
rs6919884	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6923132	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6923254	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6923665	0.94[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs6925563	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6940491	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs71569395	0.87[EUR][1000 genomes]
rs71569397	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71569399	0.94[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs71569402	0.82[EUR][1000 genomes]
rs7747538	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7760770	0.83[EUR][1000 genomes]
rs7776025	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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:55 , 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	chr6:37884800-37917000	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr6:37887600-37933200	Weak transcription	NHDF-Ad	bronchial
5	chr6:37892600-37928800	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr6:37896800-37929000	Weak transcription	Esophagus	oesophagus
7	chr6:37904800-37920400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr6:37904800-37920400	Weak transcription	Small Intestine	intestine
9	chr6:37904800-37933400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr6:37905000-37919600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr6:37905800-37916600	Weak transcription	Dnd41	blood
12	chr6:37905800-37924000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr6:37907000-37921200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:37907000-37926600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:37908600-37920400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr6:37909800-37917400	Weak transcription	Ovary	ovary
17	chr6:37910000-37922600	Weak transcription	Right Ventricle	heart
18	chr6:37911000-37919600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr6:37911000-37933200	Weak transcription	NHEK	skin
20	chr6:37911400-37917000	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr6:37911400-37919600	Weak transcription	Primary B cells from peripheral blood	blood
22	chr6:37911400-37919800	Weak transcription	Adipose Nuclei	Adipose
23	chr6:37911400-37922600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr6:37911600-37928600	Weak transcription	Lung	lung
25	chr6:37911600-37935400	Weak transcription	Primary B cells from cord blood	blood
26	chr6:37911600-37936200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr6:37911800-37918600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr6:37911800-37919600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr6:37911800-37920400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr6:37912600-37916600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr6:37912600-37917400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr6:37912800-37922600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr6:37913400-37917200	Weak transcription	Left Ventricle	heart
34	chr6:37913400-37922600	Weak transcription	Aorta	Aorta
35	chr6:37913400-37922600	Weak transcription	Pancreas	Pancrea
36	chr6:37913400-37922600	Weak transcription	Right Atrium	heart
37	chr6:37913600-37916600	Enhancers	Colon Smooth Muscle	Colon
38	chr6:37913800-37917200	Weak transcription	Gastric	stomach
39	chr6:37914200-37917200	Weak transcription	Psoas Muscle	Psoas
40	chr6:37914200-37917200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr6:37914200-37917400	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr6:37914200-37920400	Weak transcription	Primary T cells from cord blood	blood
43	chr6:37914400-37919800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr6:37914400-37923200	Weak transcription	Brain Anterior Caudate	brain
45	chr6:37914600-37921200	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr6:37914600-37923000	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr6:37914800-37916800	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr6:37914800-37917200	Weak transcription	HepG2	liver
49	chr6:37915000-37923400	Weak transcription	Brain Substantia Nigra	brain
50	chr6:37915800-37918000	Enhancers	Stomach Mucosa	stomach

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