Variant report

Variant	rs7279913
Chromosome Location	chr21:46412385-46412386
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:46411537..46413701-chr21:46472011..46474537,2	MCF-7	breast:
2	chr21:46408786..46413203-chr21:46493590..46498465,7	K562	blood:
3	chr21:46398654..46417262-chr21:46491498..46498908,48	K562	blood:
4	chr21:46407421..46409322-chr21:46410205..46412558,2	K562	blood:
5	chr21:46411461..46416034-chr21:46491875..46495276,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235374	Chromatin interaction
ENSG00000197381	Chromatin interaction
ENSG00000268856	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs2877002	1.00[EUR][1000 genomes]
rs55633511	0.85[AMR][1000 genomes]
rs55637516	1.00[EUR][1000 genomes]
rs55705724	0.85[AMR][1000 genomes]
rs55766163	1.00[EUR][1000 genomes]
rs55775492	0.85[AMR][1000 genomes]
rs55835776	0.85[AMR][1000 genomes]
rs55989453	0.85[AMR][1000 genomes]
rs56283815	0.93[AMR][1000 genomes]
rs56297608	0.93[AMR][1000 genomes]
rs57590377	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57677709	0.85[AMR][1000 genomes]
rs57835164	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58009782	1.00[EUR][1000 genomes]
rs58184639	0.81[AMR][1000 genomes]
rs58206199	1.00[EUR][1000 genomes]
rs58929845	0.85[AMR][1000 genomes]
rs58951027	0.85[AMR][1000 genomes]
rs58977945	0.93[AMR][1000 genomes]
rs59163354	0.85[AMR][1000 genomes]
rs59226008	0.85[AMR][1000 genomes]
rs59267673	0.85[AMR][1000 genomes]
rs59318141	0.93[AMR][1000 genomes]
rs59573927	0.85[AMR][1000 genomes]
rs59586139	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60725487	0.85[AMR][1000 genomes]
rs61018933	1.00[EUR][1000 genomes]
rs7276874	0.85[AMR][1000 genomes]
rs7277529	0.93[AMR][1000 genomes]
rs7278296	0.93[AMR][1000 genomes]
rs7278617	0.85[AMR][1000 genomes]
rs7283630	0.85[AMR][1000 genomes]
rs7283920	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73906965	0.93[AMR][1000 genomes]
rs73906966	0.93[AMR][1000 genomes]
rs73906970	0.93[AMR][1000 genomes]
rs73906974	0.93[AMR][1000 genomes]
rs73906981	0.85[AMR][1000 genomes]
rs73906983	0.85[AMR][1000 genomes]
rs73907002	0.85[AMR][1000 genomes]
rs73907203	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73907212	1.00[EUR][1000 genomes]
rs73909903	0.85[AMR][1000 genomes]
rs73909905	0.85[AMR][1000 genomes]
rs8127517	0.93[AMR][1000 genomes]
rs8129398	0.81[AMR][1000 genomes]
rs8130143	0.93[AMR][1000 genomes]
rs8130435	0.85[AMR][1000 genomes]
rs8133480	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8134093	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs879479	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:33 , 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	nsv1056513	chr21:46254075-46442759	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv913969	chr21:46279505-46472929	Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv913970	chr21:46305175-46487831	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv913974	chr21:46306161-46430792	Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv913975	chr21:46306161-46459432	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv913976	chr21:46306161-46487831	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv834110	chr21:46316183-46505151	Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
9	nsv1064518	chr21:46317690-46413159	Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
10	nsv913977	chr21:46335761-46454391	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	nsv913978	chr21:46335761-46466674	Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	nsv913979	chr21:46335761-46472929	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
13	nsv913980	chr21:46337565-46454391	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
14	nsv913982	chr21:46344426-46430792	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
15	nsv913984	chr21:46344426-46435610	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS 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	21 gene(s)	inside rSNPs	diseases
16	nsv913983	chr21:46344426-46440385	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
17	nsv913985	chr21:46344426-46448142	Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
18	nsv913986	chr21:46344426-46466674	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
19	nsv913987	chr21:46344426-46472929	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
20	nsv913989	chr21:46356816-46430792	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer 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	18 gene(s)	inside rSNPs	diseases
21	nsv913990	chr21:46356816-46448142	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
22	nsv913991	chr21:46356816-46472929	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
23	nsv544480	chr21:46364856-46413159	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
24	nsv913993	chr21:46376528-46448142	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
25	nsv913994	chr21:46376528-46454391	Strong transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
26	nsv913995	chr21:46376528-46466674	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
27	nsv913996	chr21:46383941-46459432	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
28	nsv913997	chr21:46383941-46472929	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
29	nsv913998	chr21:46393090-46441947	Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
30	nsv587818	chr21:46396960-46448253	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
31	nsv526277	chr21:46408790-46440385	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
32	esv1834255	chr21:46408790-46472929	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
33	esv1838717	chr21:46408790-46472929	Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46398400-46414000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr21:46402400-46421800	Enhancers	Fetal Muscle Leg	muscle
3	chr21:46403600-46414000	Weak transcription	Right Atrium	heart
4	chr21:46403800-46412600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr21:46404200-46418400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr21:46404400-46413800	Bivalent Enhancer	Fetal Stomach	stomach
7	chr21:46405600-46413400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr21:46407200-46415000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr21:46407200-46416000	Enhancers	Fetal Lung	lung
10	chr21:46407600-46413000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
11	chr21:46408200-46412800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr21:46408400-46413600	Weak transcription	Esophagus	oesophagus
13	chr21:46409000-46412600	Enhancers	Ovary	ovary
14	chr21:46409200-46414200	Weak transcription	Fetal Brain Male	brain
15	chr21:46409400-46412600	Bivalent Enhancer	Placenta	Placenta
16	chr21:46409800-46414800	Weak transcription	Fetal Intestine Small	intestine
17	chr21:46410200-46413000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr21:46410600-46414000	Weak transcription	Fetal Heart	heart
19	chr21:46410800-46414000	Weak transcription	Left Ventricle	heart
20	chr21:46410800-46416200	Weak transcription	Primary B cells from cord blood	blood
21	chr21:46410800-46420000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr21:46411200-46412800	Weak transcription	Right Ventricle	heart
23	chr21:46411400-46412400	Enhancers	Colonic Mucosa	Colon
24	chr21:46411400-46412400	Flanking Active TSS	Colon Smooth Muscle	Colon
25	chr21:46411400-46412400	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr21:46411400-46412400	Enhancers	HSMM	muscle
27	chr21:46411400-46412600	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr21:46411400-46412600	Flanking Active TSS	Stomach Smooth Muscle	stomach
29	chr21:46411400-46413200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr21:46411600-46412600	Enhancers	HSMMtube	muscle
31	chr21:46411600-46414600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr21:46411800-46415000	Weak transcription	Lung	lung
33	chr21:46411800-46415600	Enhancers	Rectal Smooth Muscle	rectum
34	chr21:46411800-46420200	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr21:46412000-46412600	Enhancers	Fetal Intestine Large	intestine
36	chr21:46412000-46412800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr21:46412000-46412800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
38	chr21:46412200-46412400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr21:46412200-46412400	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr21:46412200-46412600	Bivalent Enhancer	NHLF	lung
41	chr21:46412200-46412800	Flanking Bivalent TSS/Enh	HepG2	liver

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