Variant report

Variant	rs72784306
Chromosome Location	chr2:20832053-20832054
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20827354..20828915-chr2:20830990..20833952,3	K562	blood:
2	chr11:6626432..6627999-chr2:20831399..20833104,2	MCF-7	breast:
3	chr2:20581268..20583206-chr2:20830863..20833030,2	MCF-7	breast:
4	chr2:20647678..20650094-chr2:20830839..20832383,2	K562	blood:
5	chr2:20715700..20718175-chr2:20831708..20834413,2	MCF-7	breast:
6	chr2:20633992..20655025-chr2:20829429..20854651,127	MCF-7	breast:
7	chr2:20708831..20710405-chr2:20830760..20832680,2	MCF-7	breast:
8	chr2:20640108..20658716-chr2:20812153..20855311,258	MCF-7	breast:
9	chr2:20831127..20833228-chr2:20849381..20851101,2	MCF-7	breast:
10	chr2:20826020..20829529-chr2:20830645..20833872,5	MCF-7	breast:
11	chr2:20791456..20794990-chr2:20831460..20836071,5	MCF-7	breast:
12	chr2:20696204..20699095-chr2:20831943..20836872,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000231948	Chromatin interaction
ENSG00000143878	Chromatin interaction
ENSG00000228950	Chromatin interaction
ENSG00000118960	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1047176	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11676170	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11678019	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11688002	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12470344	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13030108	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3732149	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3732152	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3732154	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3732157	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3796065	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3821217	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55788833	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56096206	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56174003	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56203116	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56240532	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56336286	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6531247	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6719474	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6721558	0.94[EUR][1000 genomes]
rs6723273	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6728166	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72782378	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72782380	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72782396	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7559305	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7586298	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7609280	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs896733	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	nsv999269	chr2:20824833-20869372	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
8	nsv873726	chr2:20829962-20876260	Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20815000-20847600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr2:20817400-20835200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr2:20817400-20847600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr2:20817600-20832200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr2:20817600-20850000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr2:20817800-20833800	Weak transcription	Fetal Thymus	thymus
7	chr2:20818200-20835000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:20818200-20835000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr2:20818800-20833600	Weak transcription	A549	lung
10	chr2:20818800-20842400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr2:20819000-20847400	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr2:20819400-20834200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:20819400-20847800	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr2:20819800-20834200	Weak transcription	Osteobl	bone
15	chr2:20820600-20849400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr2:20820800-20849600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr2:20822000-20832600	Weak transcription	Hela-S3	cervix
18	chr2:20823000-20833600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr2:20823000-20833600	Weak transcription	HSMMtube	muscle
20	chr2:20823000-20842000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr2:20823400-20834200	Weak transcription	Small Intestine	intestine
22	chr2:20824000-20833600	Strong transcription	Fetal Intestine Small	intestine
23	chr2:20824600-20833600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:20824600-20834000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:20824600-20834200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:20824600-20835000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:20824600-20837400	Weak transcription	Thymus	Thymus
28	chr2:20824600-20837800	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr2:20824600-20839000	Weak transcription	Dnd41	blood
30	chr2:20824800-20837400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr2:20825200-20832800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr2:20825200-20833600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr2:20825400-20832800	Weak transcription	Colonic Mucosa	Colon
34	chr2:20825400-20841000	Weak transcription	Primary B cells from cord blood	blood
35	chr2:20825600-20833000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr2:20825600-20833800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr2:20825600-20836600	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr2:20826200-20832800	Strong transcription	Spleen	Spleen
39	chr2:20826400-20833000	Weak transcription	Stomach Mucosa	stomach
40	chr2:20826600-20832800	Weak transcription	Duodenum Mucosa	Duodenum
41	chr2:20827000-20832400	Strong transcription	Primary B cells from peripheral blood	blood
42	chr2:20827000-20833400	Weak transcription	Pancreas	Pancrea
43	chr2:20827000-20834200	Weak transcription	NHLF	lung
44	chr2:20827400-20832200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:20827400-20832600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr2:20827400-20832600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr2:20827400-20833600	Weak transcription	Right Atrium	heart
48	chr2:20827400-20835000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:20827400-20835000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr2:20827400-20835000	Weak transcription	Fetal Heart	heart

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