Variant report

Variant	rs61735248
Chromosome Location	chr21:45876852-45876853
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45874301..45877175-chr21:45878479..45881429,3	MCF-7	breast:
2	chr21:45875711..45878548-chr21:45899746..45901735,2	MCF-7	breast:
3	chr21:45876142..45878920-chr21:45886862..45888726,2	MCF-7	breast:
4	chr21:45719757..45722045-chr21:45874863..45877372,2	MCF-7	breast:
5	chr21:45756335..45760049-chr21:45874026..45878349,7	MCF-7	breast:
6	chr21:45875495..45879436-chr21:45881615..45885234,3	K562	blood:
7	chr21:45876830..45878456-chr21:45878976..45880619,2	K562	blood:

Variant related genes	Relation type
ENSG00000269430	Chromatin interaction
ENSG00000141959	Chromatin interaction
ENSG00000160226	Chromatin interaction
ENSG00000232969	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs28496658	0.92[AFR][1000 genomes]
rs61735244	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61735250	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6518190	0.94[AFR][1000 genomes]
rs73907194	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73907197	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73910009	0.87[AMR][1000 genomes]
rs8131492	0.87[AFR][1000 genomes]
rs8132854	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs8132880	0.87[AMR][1000 genomes]
rs8132972	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs9978495	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 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	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
3	esv3361489	chr21:45669073-46013747	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
4	nsv913911	chr21:45681153-45893907	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
5	nsv913918	chr21:45697755-45941566	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
6	nsv913922	chr21:45699404-45893907	Genic enhancers Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
7	nsv913930	chr21:45700641-45893907	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
8	nsv913940	chr21:45712588-45893907	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
9	nsv913941	chr21:45722442-45885589	ZNF genes & repeats Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
10	nsv1058359	chr21:45724055-45941566	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
11	nsv1065203	chr21:45731690-45941566	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
12	nsv544473	chr21:45731690-45941566	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
13	nsv913942	chr21:45740823-45941566	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
14	nsv913943	chr21:45740823-46031810	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
15	nsv1067264	chr21:45757599-45941566	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
16	nsv544474	chr21:45757599-45941566	Bivalent/Poised TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
17	nsv913944	chr21:45757905-45941566	Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
18	nsv1058534	chr21:45812976-45916560	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
19	nsv587801	chr21:45832912-45916560	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
20	nsv913945	chr21:45837433-45893907	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
21	nsv913946	chr21:45838632-46031810	Bivalent Enhancer ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
22	nsv913947	chr21:45852949-45885589	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
23	nsv913948	chr21:45860912-46031810	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
24	nsv834109	chr21:45869352-45916560	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
25	esv3362556	chr21:45874049-45876897	Enhancers Genic enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45875600-45877400	Enhancers	Fetal Brain Male	brain
2	chr21:45875800-45877000	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr21:45876000-45878200	Flanking Active TSS	Liver	Liver
4	chr21:45876000-45879000	Flanking Active TSS	HepG2	liver
5	chr21:45876200-45877000	Enhancers	Right Ventricle	heart
6	chr21:45876200-45877200	Enhancers	Lung	lung
7	chr21:45876200-45879200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr21:45876200-45881000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr21:45876200-45881200	Weak transcription	Left Ventricle	heart
10	chr21:45876200-45883000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr21:45876400-45877000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr21:45876400-45877000	Enhancers	Duodenum Mucosa	Duodenum
13	chr21:45876400-45877000	Enhancers	Stomach Mucosa	stomach
14	chr21:45876400-45877400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr21:45876400-45877800	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr21:45876400-45878600	Weak transcription	Primary B cells from cord blood	blood
17	chr21:45876400-45879400	Weak transcription	Thymus	Thymus
18	chr21:45876400-45881200	Weak transcription	Right Atrium	heart
19	chr21:45876400-45883400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr21:45876400-45883800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr21:45876600-45877000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr21:45876600-45877000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr21:45876600-45877200	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
24	chr21:45876600-45877400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr21:45876600-45877400	Weak transcription	Colon Smooth Muscle	Colon
26	chr21:45876600-45877400	Weak transcription	Gastric	stomach
27	chr21:45876600-45878600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr21:45876600-45878800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr21:45876600-45878800	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr21:45876600-45879200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr21:45876600-45879400	Genic enhancers	Fetal Intestine Large	intestine
32	chr21:45876600-45879600	Genic enhancers	Fetal Intestine Small	intestine
33	chr21:45876600-45879800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr21:45876600-45881200	Weak transcription	Fetal Heart	heart
35	chr21:45876600-45883200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr21:45876600-45883800	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr21:45876800-45877000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr21:45876800-45877000	Weak transcription	Adipose Nuclei	Adipose
39	chr21:45876800-45877000	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
40	chr21:45876800-45877200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr21:45876800-45877200	Strong transcription	Spleen	Spleen
42	chr21:45876800-45877800	Genic enhancers	Fetal Brain Female	brain
43	chr21:45876800-45877800	Strong transcription	Ovary	ovary
44	chr21:45876800-45878000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr21:45876800-45880800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr21:45876800-45881400	Weak transcription	Fetal Lung	lung

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