Variant report

Variant	rs61631321
Chromosome Location	chr21:46590984-46590985
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	chr21:46586995..46592553-chr21:46595453..46599761,7	K562	blood:

Variant related genes	Relation type
ENSG00000197381	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11911781	1.00[EUR][1000 genomes]
rs2104815	1.00[EUR][1000 genomes]
rs28758785	1.00[EUR][1000 genomes]
rs35019694	1.00[EUR][1000 genomes]
rs55654773	1.00[EUR][1000 genomes]
rs55888069	1.00[EUR][1000 genomes]
rs55922218	1.00[EUR][1000 genomes]
rs55986221	1.00[EUR][1000 genomes]
rs56335759	1.00[EUR][1000 genomes]
rs60462990	1.00[EUR][1000 genomes]
rs60490962	1.00[EUR][1000 genomes]
rs60708720	1.00[EUR][1000 genomes]
rs61103046	1.00[EUR][1000 genomes]
rs61106335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6518222	1.00[EUR][1000 genomes]
rs7276074	1.00[EUR][1000 genomes]
rs73371024	1.00[EUR][1000 genomes]
rs73371064	1.00[EUR][1000 genomes]
rs73907263	1.00[EUR][1000 genomes]
rs73907267	1.00[EUR][1000 genomes]
rs73907271	1.00[EUR][1000 genomes]
rs73907272	1.00[EUR][1000 genomes]
rs73907273	1.00[EUR][1000 genomes]
rs73907275	1.00[EUR][1000 genomes]
rs73907276	1.00[EUR][1000 genomes]
rs73907280	1.00[EUR][1000 genomes]
rs73907281	1.00[EUR][1000 genomes]
rs73907300	1.00[EUR][1000 genomes]
rs73907406	1.00[EUR][1000 genomes]
rs73907419	1.00[EUR][1000 genomes]
rs73907420	1.00[EUR][1000 genomes]
rs73907433	1.00[EUR][1000 genomes]
rs73907434	1.00[EUR][1000 genomes]
rs73907435	1.00[EUR][1000 genomes]
rs73910606	1.00[EUR][1000 genomes]
rs73910619	1.00[EUR][1000 genomes]
rs73910626	1.00[EUR][1000 genomes]
rs73910628	1.00[EUR][1000 genomes]
rs73910633	1.00[EUR][1000 genomes]
rs8128077	1.00[EUR][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:92 , 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	chr21:46557200-46591800	Weak transcription	HUVEC	blood vessel
3	chr21:46563000-46595600	Weak transcription	Pancreas	Pancrea
4	chr21:46572200-46595600	Weak transcription	Brain Germinal Matrix	brain
5	chr21:46572400-46601000	Weak transcription	Fetal Brain Female	brain
6	chr21:46572800-46604800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr21:46573600-46591800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr21:46575000-46595600	Weak transcription	Dnd41	blood
9	chr21:46575000-46601000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr21:46575400-46604800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr21:46576200-46595800	Weak transcription	Fetal Lung	lung
12	chr21:46580400-46591800	Weak transcription	Primary B cells from peripheral blood	blood
13	chr21:46580400-46595600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr21:46582400-46595600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr21:46582400-46595600	Weak transcription	Gastric	stomach
16	chr21:46582600-46591000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr21:46582600-46598000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr21:46582800-46592000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr21:46583600-46591000	Weak transcription	Primary B cells from cord blood	blood
20	chr21:46583800-46592000	Weak transcription	Fetal Stomach	stomach
21	chr21:46583800-46596200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr21:46583800-46606000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr21:46584000-46596600	Weak transcription	Brain Angular Gyrus	brain
24	chr21:46584400-46595600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr21:46584800-46591800	Weak transcription	Spleen	Spleen
26	chr21:46585000-46592000	Weak transcription	Right Ventricle	heart
27	chr21:46585000-46592400	Weak transcription	Lung	lung
28	chr21:46586400-46591600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr21:46587200-46596000	Weak transcription	Ovary	ovary
30	chr21:46587200-46600200	Weak transcription	Liver	Liver
31	chr21:46588000-46591000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr21:46588000-46591600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr21:46588000-46593000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr21:46588000-46595600	Weak transcription	HMEC	breast
35	chr21:46588200-46591200	Weak transcription	NHEK	skin
36	chr21:46588200-46591600	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr21:46588200-46592400	Weak transcription	Adipose Nuclei	Adipose
38	chr21:46588200-46604800	Weak transcription	NHLF	lung
39	chr21:46588400-46591200	Enhancers	Primary T cells from cord blood	blood
40	chr21:46588600-46601000	Weak transcription	Rectal Smooth Muscle	rectum
41	chr21:46588600-46601400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr21:46588800-46591400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr21:46588800-46591600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr21:46588800-46592000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr21:46589000-46591400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr21:46589000-46592200	Weak transcription	Stomach Smooth Muscle	stomach
47	chr21:46589000-46606400	Weak transcription	Brain Substantia Nigra	brain
48	chr21:46589000-46646000	Weak transcription	Colonic Mucosa	Colon
49	chr21:46589200-46595400	Weak transcription	NH-A	brain
50	chr21:46589400-46591200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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