Variant report

Variant	rs62217365
Chromosome Location	chr21:44817041-44817042
allele	A/G
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:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:44815060..44818053-chr21:44827899..44829488,2	MCF-7	breast:
2	chr21:44794897..44795700-chr21:44817028..44817994,2	Hela-S3	cervix:
3	chr21:44769641..44773201-chr21:44814648..44818595,3	MCF-7	breast:
4	chr11:72532707..72533497-chr21:44816438..44817174,2	Hela-S3	cervix:
5	chr21:44816577..44818523-chr21:44921676..44924469,3	MCF-7	breast:
6	chr21:44759752..44762306-chr21:44816293..44818010,2	MCF-7	breast:
7	chr21:44763173..44768518-chr21:44813268..44818095,5	MCF-7	breast:
8	chr21:44815638..44818048-chr21:44819779..44823056,3	MCF-7	breast:
9	chr21:44590009..44592470-chr21:44815246..44818238,2	K562	blood:
10	chr11:75945751..75946534-chr21:44816635..44817493,2	Hela-S3	cervix:
11	chr21:44810439..44813413-chr21:44816127..44819027,3	K562	blood:
12	chr21:44762861..44766108-chr21:44815534..44819790,6	MCF-7	breast:
13	chr21:44596666..44597314-chr21:44816535..44817335,2	MCF-7	breast:
14	chr21:44815027..44818660-chr21:44844165..44848384,7	MCF-7	breast:
15	chr21:44815135..44817256-chr21:45079077..45081993,2	MCF-7	breast:
16	chr16:48478868..48479549-chr21:44816264..44817248,2	Hela-S3	cervix:
17	chr21:44816498..44817222-chr8:103667168..103667816,2	Hela-S3	cervix:
18	chr21:44816118..44817862-chr21:44843966..44846945,3	MCF-7	breast:
19	chr21:44751865..44753714-chr21:44815514..44818369,4	MCF-7	breast:
20	chr21:44814631..44820586-chr21:44845176..44849099,6	K562	blood:
21	chr21:44816513..44819832-chr21:44823325..44826638,3	MCF-7	breast:
22	chr21:44780303..44782753-chr21:44815494..44817529,2	MCF-7	breast:
23	chr21:44752731..44754373-chr21:44815382..44817443,2	MCF-7	breast:
24	chr21:44815903..44818451-chr21:44831220..44833651,3	MCF-7	breast:
25	chr21:44817009..44818002-chr5:77655965..77656610,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000085365	Chromatin interaction
ENSG00000142178	Chromatin interaction
ENSG00000237989	Chromatin interaction
ENSG00000237864	Chromatin interaction
ENSG00000245556	Chromatin interaction
ENSG00000160208	Chromatin interaction
ENSG00000168010	Chromatin interaction
ENSG00000160202	Chromatin interaction
ENSG00000160207	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs62217368	1.00[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	nsv1056684	chr21:44539714-44886119	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv913831	chr21:44563995-44931821	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
3	esv1817359	chr21:44699077-44821595	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1057726	chr21:44711850-44957303	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
5	nsv544466	chr21:44711850-44957303	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
6	nsv1058308	chr21:44722915-44825108	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv1063186	chr21:44729904-44828476	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv544467	chr21:44729904-44828476	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv913837	chr21:44731138-44853859	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking 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 miRNA target site	64 gene(s)	inside rSNPs	diseases
10	nsv913838	chr21:44740134-44931821	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
11	nsv913839	chr21:44750200-44931821	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
12	nsv913840	chr21:44750643-44823479	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
13	nsv913841	chr21:44761874-44853859	Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
14	nsv913844	chr21:44779680-44875495	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS 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	82 gene(s)	inside rSNPs	diseases
15	nsv913845	chr21:44781356-44874702	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS 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	82 gene(s)	inside rSNPs	diseases
16	nsv470901	chr21:44781356-44884252	Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
17	nsv913846	chr21:44792003-44824854	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
18	nsv913847	chr21:44792003-44931821	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44790600-44830800	Weak transcription	Right Atrium	heart
2	chr21:44804400-44819000	Weak transcription	Gastric	stomach
3	chr21:44808600-44823000	Weak transcription	Brain Germinal Matrix	brain
4	chr21:44814000-44817600	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr21:44814000-44819200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr21:44814000-44822400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr21:44814200-44817800	Enhancers	Placenta Amnion	Placenta Amnion
8	chr21:44814400-44818200	Enhancers	Fetal Muscle Trunk	muscle
9	chr21:44814400-44822000	Enhancers	Placenta	Placenta
10	chr21:44814800-44818000	Weak transcription	Fetal Lung	lung
11	chr21:44814800-44818200	Weak transcription	Fetal Kidney	kidney
12	chr21:44814800-44822200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr21:44815000-44818400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr21:44815200-44817200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr21:44815200-44818200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr21:44815400-44818800	Enhancers	Esophagus	oesophagus
17	chr21:44815600-44817800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr21:44815600-44818200	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr21:44815600-44818400	Enhancers	Primary B cells from peripheral blood	blood
20	chr21:44815600-44818400	Flanking Active TSS	Hela-S3	cervix
21	chr21:44815800-44817600	Flanking Active TSS	HepG2	liver
22	chr21:44816000-44817400	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr21:44816000-44817400	Enhancers	HSMMtube	muscle
24	chr21:44816000-44817600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr21:44816000-44817600	Enhancers	Ovary	ovary
26	chr21:44816000-44817800	Enhancers	Fetal Intestine Small	intestine
27	chr21:44816000-44818000	Enhancers	Fetal Intestine Large	intestine
28	chr21:44816000-44818400	Enhancers	Stomach Mucosa	stomach
29	chr21:44816200-44818200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr21:44816200-44819000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr21:44816200-44821600	Weak transcription	Lung	lung
32	chr21:44816200-44822800	Enhancers	Spleen	Spleen
33	chr21:44816400-44817200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr21:44816400-44817200	Enhancers	NH-A	brain
35	chr21:44816400-44817400	Enhancers	HSMM	muscle
36	chr21:44816400-44817400	Enhancers	NHDF-Ad	bronchial
37	chr21:44816400-44817600	Enhancers	H1 Cell Line	embryonic stem cell
38	chr21:44816400-44817600	Flanking Active TSS	NHEK	skin
39	chr21:44816400-44819000	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr21:44816400-44819200	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr21:44816400-44823200	Enhancers	Fetal Muscle Leg	muscle
42	chr21:44816600-44817200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr21:44816600-44817200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr21:44816600-44817200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr21:44816600-44817200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr21:44816600-44817200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr21:44816600-44817200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr21:44816600-44817200	Enhancers	Fetal Heart	heart
49	chr21:44816600-44817400	Weak transcription	Pancreas	Pancrea
50	chr21:44816600-44817600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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