Variant report

Variant	rs9983596
Chromosome Location	chr21:45488643-45488644
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45483073..45484734-chr21:45486730..45488826,2	K562	blood:
2	chr21:45488029..45489681-chr21:45562055..45564999,2	K562	blood:
3	chr21:45487715..45490221-chr21:45492098..45495083,2	K562	blood:
4	chr21:45429269..45431828-chr21:45486431..45488648,2	MCF-7	breast:
5	chr21:45483073..45485151-chr21:45486951..45488826,2	K562	blood:
6	chr21:45430698..45433367-chr21:45485628..45489099,4	MCF-7	breast:
7	chr21:45476652..45480295-chr21:45485072..45489102,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000160218	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs2020943	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2071144	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2071145	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2227265	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2838465	0.91[ASN][1000 genomes]
rs2838470	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2838479	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2838484	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2838487	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2838495	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2838497	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28834388	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57812760	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57855582	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs60503863	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61689295	0.92[EUR][1000 genomes]
rs62226718	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62226719	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62226722	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62226723	0.92[EUR][1000 genomes]
rs62226724	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7275501	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7282644	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73909115	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8128926	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9284512	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9306175	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9974767	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9975436	1.00[EUR][1000 genomes]
rs9977122	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9977460	0.89[ASN][1000 genomes]
rs9978109	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9978772	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9979931	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9980021	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9982695	1.00[EUR][1000 genomes]
rs9982907	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9983551	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9984876	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv913887	chr21:45344799-45670770	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv459293	chr21:45415913-45555079	Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv587721	chr21:45415913-45555079	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv1064549	chr21:45446358-45493720	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1064420	chr21:45460089-45814986	Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	nsv544472	chr21:45460089-45814986	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
8	nsv432155	chr21:45479055-45772388	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
9	nsv913890	chr21:45482950-45603746	Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer 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	32 gene(s)	inside rSNPs	diseases
10	nsv965960	chr21:45487258-45489969	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45445400-45509400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr21:45446400-45502200	Weak transcription	Fetal Heart	heart
3	chr21:45451000-45494400	Weak transcription	Fetal Brain Male	brain
4	chr21:45468400-45502400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr21:45468800-45502600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr21:45469400-45502000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr21:45471800-45495400	Strong transcription	Fetal Muscle Leg	muscle
8	chr21:45471800-45502200	Strong transcription	Fetal Intestine Small	intestine
9	chr21:45472000-45494200	Weak transcription	Psoas Muscle	Psoas
10	chr21:45472000-45502600	Strong transcription	Duodenum Mucosa	Duodenum
11	chr21:45472400-45491200	Strong transcription	Fetal Intestine Large	intestine
12	chr21:45472600-45504400	Strong transcription	Fetal Stomach	stomach
13	chr21:45472800-45503800	Strong transcription	Liver	Liver
14	chr21:45473000-45526600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr21:45475000-45493000	Strong transcription	Fetal Muscle Trunk	muscle
16	chr21:45475000-45502600	Weak transcription	Right Atrium	heart
17	chr21:45475200-45494000	Weak transcription	Fetal Kidney	kidney
18	chr21:45475600-45491200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr21:45479800-45491200	Weak transcription	Small Intestine	intestine
20	chr21:45481400-45498400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr21:45481600-45489400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr21:45481600-45489600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr21:45481600-45502400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr21:45481600-45510800	Strong transcription	Dnd41	blood
25	chr21:45481600-45523800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr21:45481800-45489600	Strong transcription	Colonic Mucosa	Colon
27	chr21:45481800-45489800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr21:45481800-45490400	Strong transcription	Stomach Smooth Muscle	stomach
29	chr21:45481800-45502600	Strong transcription	Left Ventricle	heart
30	chr21:45481800-45503800	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr21:45482000-45503000	Strong transcription	Primary B cells from cord blood	blood
32	chr21:45482200-45493000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr21:45484000-45490400	Weak transcription	Esophagus	oesophagus
34	chr21:45484000-45494000	Weak transcription	Ovary	ovary
35	chr21:45484400-45494200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr21:45484400-45496200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr21:45484600-45494400	Weak transcription	Fetal Lung	lung
38	chr21:45484600-45496000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr21:45484800-45493200	Weak transcription	NH-A	brain
40	chr21:45485400-45498600	Weak transcription	Stomach Mucosa	stomach
41	chr21:45485600-45489000	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr21:45485600-45489400	Weak transcription	HSMMtube	muscle
43	chr21:45485600-45502200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr21:45485800-45489000	Weak transcription	Osteobl	bone
45	chr21:45485800-45490600	Weak transcription	Colon Smooth Muscle	Colon
46	chr21:45485800-45494000	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr21:45485800-45502200	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr21:45485800-45506800	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr21:45485800-45506800	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr21:45486000-45493600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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