Variant report

Variant	rs2020028
Chromosome Location	chr6:5444397-5444398
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:5438413..5441149-chr6:5444124..5446462,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs55951971	1.00[AMR][1000 genomes]
rs56670098	1.00[AMR][1000 genomes]
rs59218577	1.00[AMR][1000 genomes]
rs59668620	1.00[AMR][1000 genomes]
rs59976090	1.00[AMR][1000 genomes]
rs73352429	1.00[AMR][1000 genomes]
rs73352453	1.00[AMR][1000 genomes]
rs73352457	1.00[AMR][1000 genomes]
rs73718025	1.00[AMR][1000 genomes]
rs73718034	1.00[AMR][1000 genomes]
rs73718037	1.00[AMR][1000 genomes]
rs73718042	1.00[AMR][1000 genomes]
rs73718073	1.00[AMR][1000 genomes]
rs73718079	1.00[AMR][1000 genomes]
rs73718080	1.00[AMR][1000 genomes]
rs73718081	1.00[AMR][1000 genomes]
rs73718082	1.00[AMR][1000 genomes]
rs73718083	1.00[AMR][1000 genomes]
rs73718084	1.00[AMR][1000 genomes]
rs73718085	1.00[AMR][1000 genomes]
rs7745552	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019428	chr6:5216835-5627839	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv538118	chr6:5216835-5627839	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv830578	chr6:5264086-5455570	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv883418	chr6:5307432-5501389	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1015643	chr6:5311590-5452427	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1034607	chr6:5311590-5573514	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv538120	chr6:5311590-5573514	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv916361	chr6:5315853-5695486	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1030744	chr6:5328012-5458222	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1023027	chr6:5377308-5556749	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv538121	chr6:5377308-5556749	Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv1022505	chr6:5388025-5449240	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv600885	chr6:5424762-5455161	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
14	nsv600886	chr6:5426265-5511614	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv1017506	chr6:5443538-5551125	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5403400-5445200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr6:5421600-5455000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:5421600-5455400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr6:5421600-5457400	Weak transcription	Fetal Intestine Small	intestine
5	chr6:5433400-5453800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:5433600-5457400	Weak transcription	Left Ventricle	heart
7	chr6:5433600-5461400	Weak transcription	Fetal Stomach	stomach
8	chr6:5434200-5487000	Weak transcription	Aorta	Aorta
9	chr6:5436400-5446600	Weak transcription	HSMM	muscle
10	chr6:5436400-5447200	Weak transcription	HSMMtube	muscle
11	chr6:5437400-5471200	Weak transcription	Primary B cells from peripheral blood	blood
12	chr6:5438200-5445800	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr6:5438200-5471200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr6:5439600-5459800	Weak transcription	Primary T cells from cord blood	blood
15	chr6:5440400-5454800	Weak transcription	Liver	Liver
16	chr6:5441000-5444800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr6:5443000-5457200	Weak transcription	Brain Anterior Caudate	brain
18	chr6:5443200-5444400	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr6:5443200-5445800	Weak transcription	Hela-S3	cervix
20	chr6:5443200-5446600	Weak transcription	Osteobl	bone
21	chr6:5443600-5444400	Enhancers	Gastric	stomach
22	chr6:5443600-5444400	Enhancers	Psoas Muscle	Psoas
23	chr6:5443600-5444400	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr6:5443600-5445000	Enhancers	Fetal Muscle Leg	muscle
25	chr6:5443600-5446800	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr6:5443800-5444400	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr6:5443800-5444400	Enhancers	Fetal Brain Male	brain
28	chr6:5443800-5444400	Enhancers	Fetal Muscle Trunk	muscle
29	chr6:5443800-5458200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr6:5444000-5444400	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr6:5444000-5445000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr6:5444000-5448000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr6:5444000-5456600	Weak transcription	Lung	lung
34	chr6:5444000-5456800	Weak transcription	Brain Hippocampus Middle	brain
35	chr6:5444000-5457000	Weak transcription	Esophagus	oesophagus
36	chr6:5444000-5457000	Weak transcription	Pancreas	Pancrea
37	chr6:5444200-5448000	Weak transcription	Primary B cells from cord blood	blood

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