Variant report

Variant	rs60750077
Chromosome Location	chr21:45602330-45602331
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45600188..45604612-chr21:45658413..45661879,4	MCF-7	breast:
2	chr21:45601344..45603219-chr21:45605077..45607004,2	MCF-7	breast:
3	chr21:45599008..45602428-chr21:45718393..45720574,3	MCF-7	breast:
4	chr21:45564290..45566692-chr21:45599928..45602377,2	MCF-7	breast:
5	chr21:45555157..45557999-chr21:45600490..45602894,2	MCF-7	breast:
6	chr21:45601093..45603173-chr21:45718502..45720361,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000141959	Chromatin interaction
ENSG00000160223	Chromatin interaction
ENSG00000160221	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2838510	0.84[EUR][1000 genomes]
rs58954796	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59514931	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61648450	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62228168	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62228169	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62228171	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62228172	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62228173	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62228182	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9980063	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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	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
4	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
5	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
6	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
7	nsv913893	chr21:45508561-45603746	Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv913894	chr21:45508561-45627976	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	nsv913896	chr21:45528919-45603746	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	nsv913897	chr21:45528919-45640139	Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	esv1825445	chr21:45535566-45754936	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
12	esv1817474	chr21:45540607-45773102	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
13	nsv533679	chr21:45551026-45768578	Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
14	nsv913898	chr21:45555079-45941566	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	74 gene(s)	inside rSNPs	diseases
15	nsv428042	chr21:45560437-45848190	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
16	nsv1065479	chr21:45571324-45617878	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
17	nsv913899	chr21:45577102-45611950	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
18	nsv913900	chr21:45577102-45640139	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45593400-45605000	Weak transcription	Small Intestine	intestine
2	chr21:45593600-45604800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr21:45597200-45604400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr21:45600000-45603200	Enhancers	Primary B cells from peripheral blood	blood
5	chr21:45600200-45602800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr21:45600400-45602600	Enhancers	Primary B cells from cord blood	blood
7	chr21:45600600-45602400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr21:45600600-45602400	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr21:45600600-45602600	Enhancers	Fetal Muscle Leg	muscle
10	chr21:45600600-45604400	Weak transcription	Gastric	stomach
11	chr21:45600800-45602400	Enhancers	Adipose Nuclei	Adipose
12	chr21:45600800-45602600	Enhancers	Brain Hippocampus Middle	brain
13	chr21:45600800-45602600	Enhancers	Fetal Lung	lung
14	chr21:45601000-45602400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
15	chr21:45601000-45602400	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr21:45601000-45602400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr21:45601000-45602400	Enhancers	Right Atrium	heart
18	chr21:45601000-45602400	Bivalent Enhancer	Dnd41	blood
19	chr21:45601000-45603000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr21:45601000-45603000	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr21:45601200-45602400	Enhancers	Brain Anterior Caudate	brain
22	chr21:45601200-45602400	Enhancers	Brain Cingulate Gyrus	brain
23	chr21:45601200-45602400	Enhancers	Brain Substantia Nigra	brain
24	chr21:45601200-45602400	Enhancers	Fetal Brain Male	brain
25	chr21:45601200-45602400	Bivalent Enhancer	Fetal Stomach	stomach
26	chr21:45601200-45602400	Flanking Active TSS	HSMMtube	muscle
27	chr21:45601200-45602600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
28	chr21:45601200-45602600	Enhancers	Stomach Mucosa	stomach
29	chr21:45601200-45603000	Enhancers	Fetal Thymus	thymus
30	chr21:45601200-45604400	Weak transcription	Esophagus	oesophagus
31	chr21:45601400-45602600	Enhancers	Thymus	Thymus
32	chr21:45601400-45602600	Enhancers	GM12878-XiMat	blood
33	chr21:45601400-45602800	Enhancers	Primary hematopoietic stem cells	blood
34	chr21:45601400-45602800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr21:45601400-45605000	Weak transcription	Colonic Mucosa	Colon
36	chr21:45601400-45605000	Weak transcription	Lung	lung
37	chr21:45601400-45605600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr21:45601600-45602600	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr21:45601600-45602600	Enhancers	Placenta	Placenta
40	chr21:45601600-45604400	Weak transcription	Brain Angular Gyrus	brain
41	chr21:45601600-45604400	Weak transcription	Spleen	Spleen
42	chr21:45601600-45605000	Weak transcription	Pancreas	Pancrea
43	chr21:45601800-45603000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr21:45601800-45603400	Flanking Active TSS	HSMM	muscle
45	chr21:45602000-45602400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr21:45602200-45602400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr21:45602200-45602400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
48	chr21:45602200-45602400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
49	chr21:45602200-45602400	Enhancers	Left Ventricle	heart
50	chr21:45602200-45602400	Enhancers	Placenta Amnion	Placenta Amnion

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