Variant report

Variant	rs9680343
Chromosome Location	chr21:47724246-47724247
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:47714784..47717174-chr21:47723560..47726052,2	MCF-7	breast:
2	chr21:47721939..47724799-chr21:47732004..47733970,2	MCF-7	breast:
3	chr21:47718509..47724261-chr21:47732959..47738534,9	K562	blood:
4	chr21:47700722..47725192-chr21:47732201..47746452,77	K562	blood:
5	chr21:47718241..47721111-chr21:47723406..47725990,2	K562	blood:
6	chr21:47716063..47717906-chr21:47723260..47724786,2	K562	blood:
7	chr21:47724056..47726526-chr21:47744918..47748024,3	MCF-7	breast:
8	chr21:47705928..47708356-chr21:47720533..47726820,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000160299	Chromatin interaction
ENSG00000182362	Chromatin interaction
ENSG00000160298	Chromatin interaction
ENSG00000160294	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10483082	1.00[ASN][1000 genomes]
rs11909415	1.00[ASN][1000 genomes]
rs11910341	1.00[ASN][1000 genomes]
rs11910459	1.00[ASN][1000 genomes]
rs12106325	1.00[ASN][1000 genomes]
rs16979009	0.87[EUR][1000 genomes]
rs16979206	1.00[ASN][1000 genomes]
rs16979207	1.00[ASN][1000 genomes]
rs17176177	0.87[EUR][1000 genomes]
rs17176604	0.87[EUR][1000 genomes]
rs17177002	0.87[EUR][1000 genomes]
rs17182906	0.87[EUR][1000 genomes]
rs17182962	0.87[EUR][1000 genomes]
rs2839190	0.87[EUR][1000 genomes]
rs2839192	0.87[EUR][1000 genomes]
rs2839213	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2839214	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2839216	1.00[ASN][1000 genomes]
rs2839221	1.00[ASN][1000 genomes]
rs28802698	1.00[ASN][1000 genomes]
rs28856972	1.00[ASN][1000 genomes]
rs56077060	1.00[ASN][1000 genomes]
rs57134378	1.00[ASN][1000 genomes]
rs57936960	1.00[ASN][1000 genomes]
rs58228841	1.00[ASN][1000 genomes]
rs58468580	1.00[ASN][1000 genomes]
rs59691259	1.00[ASN][1000 genomes]
rs59691409	0.87[EUR][1000 genomes]
rs60091558	1.00[ASN][1000 genomes]
rs60455426	1.00[ASN][1000 genomes]
rs61407822	1.00[ASN][1000 genomes]
rs6518290	1.00[ASN][1000 genomes]
rs7275336	0.87[EUR][1000 genomes]
rs7275639	0.87[EUR][1000 genomes]
rs7278766	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7279894	0.87[EUR][1000 genomes]
rs7282858	1.00[ASN][1000 genomes]
rs73371913	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73373837	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73373844	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73373855	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73373860	1.00[ASN][1000 genomes]
rs73379336	1.00[ASN][1000 genomes]
rs73379382	1.00[ASN][1000 genomes]
rs73381193	1.00[ASN][1000 genomes]
rs73381196	1.00[ASN][1000 genomes]
rs73383320	1.00[ASN][1000 genomes]
rs73383347	1.00[ASN][1000 genomes]
rs73386564	0.87[EUR][1000 genomes]
rs73388635	0.86[EUR][1000 genomes]
rs73907470	1.00[ASN][1000 genomes]
rs73907473	1.00[ASN][1000 genomes]
rs73907474	1.00[ASN][1000 genomes]
rs8129476	1.00[ASN][1000 genomes]
rs8132028	0.87[EUR][1000 genomes]
rs8134066	0.87[EUR][1000 genomes]
rs881923	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059230	chr21:46956877-47907990	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
2	nsv544491	chr21:46956877-47907990	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
3	nsv1058472	chr21:47027823-47797326	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
4	nsv544492	chr21:47027823-47797326	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
5	nsv1065959	chr21:47188878-48091343	Bivalent Enhancer Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	n/a
6	nsv531580	chr21:47221774-48090317	Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	n/a
7	nsv918103	chr21:47297067-48089510	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	n/a
8	nsv869002	chr21:47297268-47963186	Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Strong transcription 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 miRNA target site	73 gene(s)	inside rSNPs	n/a
9	nsv470910	chr21:47353775-48084988	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
10	nsv1059118	chr21:47398331-48090457	Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
11	nsv544494	chr21:47398331-48090457	Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS 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 miRNA target site	95 gene(s)	inside rSNPs	n/a
12	nsv934264	chr21:47401083-48090317	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
13	nsv1060978	chr21:47488073-47833640	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	n/a
14	nsv519904	chr21:47583506-47881309	Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
15	nsv948761	chr21:47587940-48069930	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS 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	83 gene(s)	inside rSNPs	n/a
16	nsv1055239	chr21:47591378-48090317	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	n/a
17	nsv544495	chr21:47591378-48090317	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	n/a
18	nsv933354	chr21:47609029-47851401	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	n/a
19	nsv949706	chr21:47625544-48069930	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	n/a
20	nsv529496	chr21:47634193-48090317	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	n/a
21	nsv587975	chr21:47661235-47830843	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	n/a
22	nsv432159	chr21:47673247-47854392	Weak transcription Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	n/a
23	nsv527355	chr21:47678774-47863025	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	n/a
24	nsv914135	chr21:47681041-47762374	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	n/a
25	nsv914136	chr21:47681041-47900994	Active TSS Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	n/a
26	nsv1064588	chr21:47700051-47788823	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	n/a
27	nsv544496	chr21:47700051-47788823	Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers 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	33 gene(s)	inside rSNPs	n/a
28	nsv914137	chr21:47700498-47862624	Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	n/a
29	nsv914138	chr21:47700498-47866227	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	n/a
30	nsv914139	chr21:47706737-47786494	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	n/a
31	nsv914140	chr21:47712185-47866227	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	n/a
32	nsv914141	chr21:47712412-47757419	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47710000-47727600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr21:47716200-47727200	Weak transcription	HSMMtube	muscle
3	chr21:47716400-47727000	Weak transcription	HSMM	muscle
4	chr21:47716600-47724400	Weak transcription	K562	blood
5	chr21:47716800-47738600	Weak transcription	HepG2	liver
6	chr21:47717800-47739600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr21:47718000-47729200	Weak transcription	Aorta	Aorta
8	chr21:47718000-47736000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr21:47718200-47724400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr21:47718200-47724400	Weak transcription	Brain Angular Gyrus	brain
11	chr21:47718200-47724400	Weak transcription	NH-A	brain
12	chr21:47718200-47724600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr21:47718200-47724600	Weak transcription	Primary B cells from cord blood	blood
14	chr21:47718200-47724600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr21:47718200-47724600	Weak transcription	Brain Substantia Nigra	brain
16	chr21:47718200-47724600	Weak transcription	Fetal Kidney	kidney
17	chr21:47718200-47724600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr21:47718200-47724600	Weak transcription	NHDF-Ad	bronchial
19	chr21:47718200-47726800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr21:47718200-47731600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr21:47718200-47737400	Weak transcription	Fetal Heart	heart
22	chr21:47718200-47737800	Weak transcription	Colonic Mucosa	Colon
23	chr21:47718200-47740800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr21:47718200-47742000	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr21:47718200-47742200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr21:47718400-47724400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr21:47718400-47724400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr21:47718400-47724400	Weak transcription	Adipose Nuclei	Adipose
29	chr21:47718400-47724400	Weak transcription	Liver	Liver
30	chr21:47718400-47724400	Weak transcription	Fetal Brain Female	brain
31	chr21:47718400-47724400	Weak transcription	HMEC	breast
32	chr21:47718400-47724400	Weak transcription	HUVEC	blood vessel
33	chr21:47718400-47726600	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr21:47718400-47727400	Weak transcription	Pancreas	Pancrea
35	chr21:47718400-47728400	Weak transcription	Primary T cells from cord blood	blood
36	chr21:47718400-47737600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr21:47718400-47737600	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr21:47718400-47737600	Weak transcription	Right Ventricle	heart
39	chr21:47718400-47737800	Weak transcription	Left Ventricle	heart
40	chr21:47718400-47740200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr21:47718400-47740600	Weak transcription	Primary B cells from peripheral blood	blood
42	chr21:47718400-47741600	Weak transcription	Fetal Brain Male	brain
43	chr21:47718400-47742200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr21:47718400-47742200	Weak transcription	Right Atrium	heart
45	chr21:47718600-47731600	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr21:47718600-47738000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr21:47718800-47725600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr21:47719000-47725200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr21:47719000-47738200	Strong transcription	Fetal Stomach	stomach
50	chr21:47719000-47738800	Strong transcription	Dnd41	blood

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