Variant report

Variant	rs2823136
Chromosome Location	chr21:16571951-16571952
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:31)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:16568438..16570001-chr21:16571756..16574334,2	MCF-7	breast:
2	chr21:16377480..16378305-chr21:16571594..16572768,5	MCF-7	breast:
3	chr21:16545350..16545973-chr21:16571500..16572040,2	MCF-7	breast:
4	chr21:16570442..16572661-chr21:16665803..16668621,2	MCF-7	breast:
5	chr21:16549985..16551510-chr21:16570529..16573382,2	MCF-7	breast:
6	chr21:16506016..16509076-chr21:16569179..16572213,3	MCF-7	breast:
7	chr21:16545087..16546235-chr21:16571540..16572822,5	MCF-7	breast:
8	chr21:16571823..16572955-chr21:16581851..16583286,29	MCF-7	breast:
9	chr21:16571579..16572982-chr21:16958893..16959825,7	MCF-7	breast:
10	chr21:16571618..16573167-chr21:16582264..16583152,8	MCF-7	breast:
11	chr21:16571625..16572981-chr21:16582195..16583291,25	MCF-7	breast:
12	chr21:16377430..16378305-chr21:16571594..16572768,4	MCF-7	breast:
13	chr21:16570410..16572952-chr21:16744868..16746614,2	MCF-7	breast:
14	chr21:16570464..16574427-chr21:16815066..16817993,4	MCF-7	breast:
15	chr21:16253394..16255024-chr21:16571558..16573354,2	MCF-7	breast:
16	chr21:16564425..16567335-chr21:16570458..16574314,5	MCF-7	breast:
17	chr21:16571818..16572996-chr21:16582415..16583526,5	MCF-7	breast:
18	chr21:16429926..16439498-chr21:16561851..16585948,113	MCF-7	breast:
19	chr21:16421751..16443998-chr21:16557859..16589610,273	MCF-7	breast:
20	chr21:16569254..16574166-chr21:16662821..16666093,6	MCF-7	breast:
21	chr21:16473730..16476676-chr21:16570598..16572953,2	MCF-7	breast:
22	chr21:16543823..16545720-chr21:16570709..16572635,2	MCF-7	breast:
23	chr21:16571538..16572982-chr21:16582327..16583133,7	MCF-7	breast:
24	chr21:16239516..16243603-chr21:16570212..16573471,3	MCF-7	breast:
25	chr21:16492929..16496497-chr21:16570239..16574662,7	MCF-7	breast:
26	chr21:16569632..16571997-chr9:114245370..114247044,2	MCF-7	breast:
27	chr21:16235013..16237732-chr21:16570965..16574658,5	MCF-7	breast:
28	chr21:16545793..16547434-chr21:16571393..16572944,2	MCF-7	breast:
29	chr21:16570806..16572373-chr21:16663419..16665582,2	MCF-7	breast:
30	chr21:16467730..16470164-chr21:16570752..16572573,2	MCF-7	breast:
31	chr21:16571135..16572773-chr21:16640417..16643289,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000235609	Chromatin interaction
ENSG00000136813	Chromatin interaction
ENSG00000236471	Chromatin interaction
ENSG00000180530	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11088317	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2403907	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2823128	0.86[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2823129	0.87[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2823131	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2823132	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2823133	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2823134	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2823135	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2823137	0.85[CEU][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2823138	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs2823139	0.83[YRI][hapmap]
rs60893125	0.87[ASN][1000 genomes]
rs7275438	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7275695	0.90[CEU][hapmap];0.90[CHB][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7276622	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7282349	0.86[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs926167	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063385	chr21:16521617-16926212	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv913413	chr21:16537728-16621859	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16565800-16573400	Enhancers	HepG2	liver
2	chr21:16569400-16572400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr21:16569800-16573600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr21:16570200-16573200	Enhancers	Fetal Heart	heart
5	chr21:16570800-16572200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr21:16570800-16572200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr21:16570800-16572600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr21:16571000-16572200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr21:16571000-16572200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr21:16571000-16572400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr21:16571000-16572400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr21:16571000-16572600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr21:16571400-16572800	Enhancers	HSMMtube	muscle
14	chr21:16571600-16572000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr21:16571600-16572000	Enhancers	Fetal Muscle Leg	muscle
16	chr21:16571600-16572000	Enhancers	Left Ventricle	heart
17	chr21:16571600-16572200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr21:16571600-16573000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr21:16571600-16573000	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr21:16571600-16573200	Enhancers	A549	lung
21	chr21:16571800-16572200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr21:16571800-16572200	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr21:16571800-16572200	Enhancers	HSMM	muscle
24	chr21:16571800-16572400	Enhancers	H1 Cell Line	embryonic stem cell
25	chr21:16571800-16572400	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr21:16571800-16572400	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr21:16571800-16572400	Enhancers	Adipose Nuclei	Adipose
28	chr21:16571800-16572400	Enhancers	Fetal Kidney	kidney
29	chr21:16571800-16572400	Enhancers	Rectal Smooth Muscle	rectum
30	chr21:16571800-16572400	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr21:16571800-16572400	Enhancers	K562	blood
32	chr21:16571800-16572800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr21:16571800-16572800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr21:16571800-16573000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr21:16571800-16573200	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr21:16571800-16573200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr21:16571800-16576600	Weak transcription	Right Atrium	heart

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