Variant report

Variant	rs57444374
Chromosome Location	chr2:20835663-20835664
allele	C/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:35)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20643137..20644982-chr2:20835031..20838121,3	K562	blood:
2	chr2:20595552..20596431-chr2:20835296..20835858,4	K562	blood:
3	chr2:20783319..20786192-chr2:20833674..20835720,2	MCF-7	breast:
4	chr2:20643137..20644831-chr2:20835031..20837095,2	K562	blood:
5	chr2:20671558..20673879-chr2:20833720..20836195,3	MCF-7	breast:
6	chr2:20642767..20643493-chr2:20835303..20836123,5	MCF-7	breast:
7	chr2:20835278..20836248-chr2:20850171..20851022,3	K562	blood:
8	chr2:20551601..20553664-chr2:20833641..20836097,2	MCF-7	breast:
9	chr2:20800241..20801250-chr2:20835365..20836140,3	MCF-7	breast:
10	chr2:20719291..20722049-chr2:20832959..20835797,2	MCF-7	breast:
11	chr2:20755567..20758118-chr2:20834958..20837655,2	MCF-7	breast:
12	chr2:20792259..20795182-chr2:20833683..20836436,3	MCF-7	breast:
13	chr2:20633992..20655025-chr2:20829429..20854651,127	MCF-7	breast:
14	chr2:20834621..20842195-chr2:20845758..20852616,8	MCF-7	breast:
15	chr2:20835349..20838099-chr2:20838875..20841328,3	MCF-7	breast:
16	chr2:20724329..20726652-chr2:20833797..20835964,2	MCF-7	breast:
17	chr2:20651983..20652871-chr2:20835232..20836648,4	MCF-7	breast:
18	chr2:20636110..20639371-chr2:20834157..20837264,3	MCF-7	breast:
19	chr2:20595575..20596468-chr2:20835032..20836255,3	MCF-7	breast:
20	chr2:20595462..20596242-chr2:20835415..20836238,2	MCF-7	breast:
21	chr2:20667634..20669481-chr2:20834271..20836611,2	MCF-7	breast:
22	chr2:20694483..20697401-chr2:20832630..20835726,3	MCF-7	breast:
23	chr2:20803733..20805677-chr2:20834978..20836857,2	K562	blood:
24	chr2:20640108..20658716-chr2:20812153..20855311,258	MCF-7	breast:
25	chr2:20642715..20643588-chr2:20834999..20836376,11	K562	blood:
26	chr2:20795835..20797595-chr2:20834654..20837275,2	K562	blood:
27	chr2:20664006..20666925-chr2:20834002..20835809,3	MCF-7	breast:
28	chr2:20642752..20643605-chr2:20835184..20835902,3	MCF-7	breast:
29	chr2:20833801..20836213-chr2:20848562..20850231,2	K562	blood:
30	chr2:20610878..20611488-chr2:20835352..20836256,4	K562	blood:
31	chr2:20791456..20794990-chr2:20831460..20836071,5	MCF-7	breast:
32	chr2:20607947..20609876-chr2:20833960..20836883,2	MCF-7	breast:
33	chr2:20696204..20699095-chr2:20831943..20836872,4	MCF-7	breast:
34	chr2:20551181..20553508-chr2:20834361..20837225,2	K562	blood:
35	chr2:20664677..20667421-chr2:20834049..20837198,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000228950	Chromatin interaction
ENSG00000055917	Chromatin interaction
ENSG00000252216	Chromatin interaction
ENSG00000231948	Chromatin interaction
ENSG00000118960	Chromatin interaction
ENSG00000143878	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1047163	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs13430232	0.85[EUR][1000 genomes]
rs4666321	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56081219	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57347707	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57417650	0.97[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs60580455	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61227046	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72782389	0.85[EUR][1000 genomes]
rs72782390	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72782397	0.82[EUR][1000 genomes]
rs72782400	0.83[EUR][1000 genomes]
rs72784304	0.87[EUR][1000 genomes]
rs72784309	0.87[EUR][1000 genomes]
rs72784311	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7606003	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:120 , 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	chr2:20817400-20847600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr2:20817600-20850000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr2:20818800-20842400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:20819000-20847400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr2:20819400-20847800	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr2:20820600-20849400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr2:20820800-20849600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr2:20823000-20842000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr2:20824600-20837400	Weak transcription	Thymus	Thymus
11	chr2:20824600-20837800	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr2:20824600-20839000	Weak transcription	Dnd41	blood
13	chr2:20824800-20837400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr2:20825400-20841000	Weak transcription	Primary B cells from cord blood	blood
15	chr2:20825600-20836600	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr2:20828600-20841800	Strong transcription	Primary T cells from cord blood	blood
17	chr2:20828800-20847800	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr2:20831800-20836000	Genic enhancers	Lung	lung
19	chr2:20832400-20836800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr2:20832600-20837800	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr2:20832600-20850000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr2:20832800-20835800	Enhancers	Fetal Muscle Leg	muscle
23	chr2:20832800-20836000	Genic enhancers	Spleen	Spleen
24	chr2:20833000-20836200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr2:20833000-20836400	Enhancers	Colon Smooth Muscle	Colon
26	chr2:20833000-20837400	Enhancers	Stomach Mucosa	stomach
27	chr2:20833000-20841800	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr2:20833400-20836200	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr2:20833400-20837200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr2:20833600-20835800	Enhancers	Muscle Satellite Cultured Cells	--
31	chr2:20833600-20836000	Enhancers	Aorta	Aorta
32	chr2:20833600-20836000	Genic enhancers	Fetal Intestine Small	intestine
33	chr2:20833600-20836000	Enhancers	Right Atrium	heart
34	chr2:20833600-20836000	Enhancers	HMEC	breast
35	chr2:20833600-20836200	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr2:20833600-20836200	Enhancers	Esophagus	oesophagus
37	chr2:20833600-20836200	Enhancers	Fetal Brain Male	brain
38	chr2:20833600-20836600	Enhancers	Left Ventricle	heart
39	chr2:20833600-20836600	Enhancers	Right Ventricle	heart
40	chr2:20833600-20837600	Enhancers	Liver	Liver
41	chr2:20833800-20835800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr2:20833800-20835800	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr2:20833800-20837400	Genic enhancers	Fetal Stomach	stomach
44	chr2:20833800-20842000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr2:20833800-20843000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr2:20834000-20836000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:20834000-20836000	Enhancers	Duodenum Mucosa	Duodenum
48	chr2:20834000-20836000	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr2:20834000-20836200	Enhancers	Brain Germinal Matrix	brain
50	chr2:20834000-20838400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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