Variant report

Variant	rs2838798
Chromosome Location	chr21:46595844-46595845
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	chr21:46586995..46592553-chr21:46595453..46599761,7	K562	blood:
2	chr21:46572313..46573898-chr21:46593543..46595938,2	K562	blood:

Variant related genes	Relation type
ENSG00000197381	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11908769	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs11911694	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17004740	0.89[AFR][1000 genomes]
rs17004746	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2838795	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv531546	chr21:46504151-47411772	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
3	nsv1059771	chr21:46561482-46830602	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv544481	chr21:46561482-46830602	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv1063943	chr21:46571988-46819424	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv544482	chr21:46571988-46819424	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv1064859	chr21:46571988-46830602	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
8	nsv544483	chr21:46571988-46830602	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
9	nsv1061691	chr21:46572641-46831862	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
10	nsv544484	chr21:46572641-46831862	Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
11	esv1802303	chr21:46580319-46606676	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
12	nsv587839	chr21:46580370-46837709	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
13	nsv587840	chr21:46580370-46839904	Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
14	nsv916959	chr21:46585681-46831845	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46557000-46604800	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr21:46572400-46601000	Weak transcription	Fetal Brain Female	brain
3	chr21:46572800-46604800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr21:46575000-46601000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr21:46575400-46604800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr21:46582600-46598000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr21:46583800-46596200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr21:46583800-46606000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr21:46584000-46596600	Weak transcription	Brain Angular Gyrus	brain
10	chr21:46587200-46596000	Weak transcription	Ovary	ovary
11	chr21:46587200-46600200	Weak transcription	Liver	Liver
12	chr21:46588200-46604800	Weak transcription	NHLF	lung
13	chr21:46588600-46601000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr21:46588600-46601400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr21:46589000-46606400	Weak transcription	Brain Substantia Nigra	brain
16	chr21:46589000-46646000	Weak transcription	Colonic Mucosa	Colon
17	chr21:46589600-46596000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr21:46589600-46604600	Weak transcription	Osteobl	bone
19	chr21:46589800-46596200	Weak transcription	Colon Smooth Muscle	Colon
20	chr21:46589800-46596600	Weak transcription	Brain Anterior Caudate	brain
21	chr21:46589800-46596600	Weak transcription	Brain Hippocampus Middle	brain
22	chr21:46589800-46600200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr21:46589800-46602400	Weak transcription	Primary hematopoietic stem cells	blood
24	chr21:46589800-46604800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr21:46589800-46604800	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr21:46590000-46596600	Weak transcription	Fetal Thymus	thymus
27	chr21:46590000-46604800	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr21:46590000-46605000	Weak transcription	Psoas Muscle	Psoas
29	chr21:46590000-46608800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr21:46590800-46607000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr21:46591000-46605000	Strong transcription	HSMM	muscle
32	chr21:46591200-46601600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr21:46591400-46605000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr21:46591400-46605800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr21:46592200-46596600	Weak transcription	NHEK	skin
36	chr21:46592200-46601000	Weak transcription	Thymus	Thymus
37	chr21:46592800-46596000	Weak transcription	Left Ventricle	heart
38	chr21:46593000-46596000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr21:46593400-46596000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr21:46593400-46596000	Weak transcription	Fetal Intestine Large	intestine
41	chr21:46593400-46600200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr21:46594400-46596200	Weak transcription	HepG2	liver
43	chr21:46594400-46604800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr21:46594600-46598000	Strong transcription	Hela-S3	cervix
45	chr21:46594800-46601000	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr21:46595200-46605000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr21:46595400-46602000	Strong transcription	Fetal Stomach	stomach
48	chr21:46595400-46603600	Strong transcription	HSMMtube	muscle
49	chr21:46595600-46596000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr21:46595600-46596000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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