Variant report

Variant	rs62125677
Chromosome Location	chr2:20819786-20819787
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20804020..20806157-chr2:20816542..20819817,4	MCF-7	breast:
2	chr2:20800573..20801174-chr2:20819017..20819820,2	MCF-7	breast:
3	chr2:20816763..20821100-chr2:20824834..20828532,5	K562	blood:
4	chr2:20818751..20820914-chr2:20842714..20844441,2	MCF-7	breast:
5	chr2:20665733..20672605-chr2:20815236..20823686,12	MCF-7	breast:
6	chr2:20801637..20803782-chr2:20817932..20820325,2	MCF-7	breast:
7	chr2:20789997..20792343-chr2:20817909..20819855,2	MCF-7	breast:
8	chr2:20671303..20674787-chr2:20817796..20820495,3	MCF-7	breast:
9	chr2:20644675..20653597-chr2:20811663..20819940,20	MCF-7	breast:
10	chr2:20697592..20700414-chr2:20816626..20820638,4	MCF-7	breast:
11	chr2:20818868..20821100-chr2:20824834..20827973,3	K562	blood:
12	chr2:20817280..20821353-chr2:20848044..20851873,4	MCF-7	breast:
13	chr2:20818029..20819883-chr2:20821089..20823704,2	K562	blood:
14	chr2:20640108..20658716-chr2:20812153..20855311,258	MCF-7	breast:
15	chr2:20665945..20667878-chr2:20818560..20821196,2	MCF-7	breast:
16	chr2:20818383..20821055-chr2:20822023..20824798,3	K562	blood:
17	chr16:2204905..2206890-chr2:20817746..20820102,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000131653	Chromatin interaction
ENSG00000260260	Chromatin interaction
ENSG00000143878	Chromatin interaction
ENSG00000206630	Chromatin interaction
ENSG00000228950	Chromatin interaction
ENSG00000231948	Chromatin interaction
ENSG00000118960	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs16987945	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4426492	0.95[ASN][1000 genomes]
rs55766730	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60631754	0.94[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs62122090	0.95[ASN][1000 genomes]
rs62122091	0.95[ASN][1000 genomes]
rs62125672	0.94[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs62125673	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62125674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62125675	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62125676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6708069	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72784303	0.95[ASN][1000 genomes]
rs73916930	0.95[ASN][1000 genomes]
rs73916931	0.95[ASN][1000 genomes]
rs896737	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833537	chr2:20630092-20826816	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv833548	chr2:20682073-20864078	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1012037	chr2:20770850-20824893	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv535598	chr2:20770850-20824893	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv581167	chr2:20791125-20827846	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active 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	10 gene(s)	inside rSNPs	diseases
6	nsv1008473	chr2:20811359-20879186	Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv535599	chr2:20811359-20879186	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
8	nsv517472	chr2:20814583-20855176	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised 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	20 gene(s)	inside rSNPs	diseases
9	nsv873725	chr2:20814583-20855176	Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
10	nsv527901	chr2:20818458-20876386	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20808600-20819800	Enhancers	Brain Substantia Nigra	brain
2	chr2:20811600-20820200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr2:20812400-20820600	Enhancers	Right Ventricle	heart
4	chr2:20812400-20820800	Enhancers	Right Atrium	heart
5	chr2:20812400-20821200	Enhancers	Left Ventricle	heart
6	chr2:20813600-20819800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:20815000-20831800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:20815000-20847600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr2:20815600-20824200	Enhancers	Fetal Heart	heart
10	chr2:20816000-20821000	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:20816400-20819800	Enhancers	NHDF-Ad	bronchial
12	chr2:20816400-20821600	Enhancers	Placenta Amnion	Placenta Amnion
13	chr2:20816800-20820400	Genic enhancers	Spleen	Spleen
14	chr2:20817000-20824200	Weak transcription	Thymus	Thymus
15	chr2:20817200-20819800	Enhancers	Osteobl	bone
16	chr2:20817200-20823200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:20817200-20826600	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr2:20817400-20819800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr2:20817400-20821400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:20817400-20821400	Weak transcription	Fetal Brain Female	brain
21	chr2:20817400-20827200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr2:20817400-20831400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr2:20817400-20835200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr2:20817400-20847600	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr2:20817600-20832200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr2:20817600-20850000	Weak transcription	Primary hematopoietic stem cells	blood
27	chr2:20817800-20823000	Weak transcription	Small Intestine	intestine
28	chr2:20817800-20826200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:20817800-20833800	Weak transcription	Fetal Thymus	thymus
30	chr2:20818000-20825600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr2:20818200-20819800	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr2:20818200-20819800	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr2:20818200-20820600	Genic enhancers	Fetal Stomach	stomach
34	chr2:20818200-20823800	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr2:20818200-20825200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr2:20818200-20828600	Weak transcription	Fetal Kidney	kidney
37	chr2:20818200-20835000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr2:20818200-20835000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr2:20818400-20819800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:20818400-20819800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr2:20818400-20820000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr2:20818400-20820000	Weak transcription	NHEK	skin
43	chr2:20818400-20820400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:20818400-20821000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr2:20818400-20821000	Genic enhancers	Lung	lung
46	chr2:20818400-20822200	Weak transcription	HMEC	breast
47	chr2:20818400-20823400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr2:20818400-20825000	Strong transcription	Primary B cells from peripheral blood	blood
49	chr2:20818400-20825600	Weak transcription	HUVEC	blood vessel
50	chr2:20818400-20828800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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