Variant report

Variant	rs2823208
Chromosome Location	chr21:16663525-16663526
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:16569254..16574166-chr21:16662821..16666093,6	MCF-7	breast:
2	chr21:16662853..16665318-chr21:16789620..16791689,2	MCF-7	breast:
3	chr21:16575011..16578774-chr21:16661740..16665186,4	MCF-7	breast:
4	chr21:16663401..16665237-chr21:16852171..16854477,2	MCF-7	breast:
5	chr21:16581111..16587442-chr21:16661859..16666667,10	MCF-7	breast:
6	chr21:16570806..16572373-chr21:16663419..16665582,2	MCF-7	breast:
7	chr21:16436807..16439448-chr21:16663226..16666430,5	MCF-7	breast:
8	chr21:16662884..16665504-chr21:16853719..16855454,2	MCF-7	breast:
9	chr21:16656272..16660929-chr21:16661608..16666085,6	MCF-7	breast:
10	chr21:16577077..16584288-chr21:16662087..16667374,8	MCF-7	breast:
11	chr21:16235915..16238127-chr21:16662847..16665093,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000236471	Chromatin interaction
ENSG00000180530	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11088345	1.00[CEU][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12483494	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16981452	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16981457	1.00[CEU][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.92[MEX][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2178903	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2178904	1.00[CEU][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.85[MEX][hapmap];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2823210	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823218	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4816535	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4816537	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55916325	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57024216	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57072937	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73892445	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73892447	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73892449	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73892454	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9977579	0.80[ASN][1000 genomes]
rs9980907	0.80[ASN][1000 genomes]
rs9984391	0.80[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	nsv1056659	chr21:16646531-16709391	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16653000-16663600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr21:16659000-16665000	Weak transcription	HSMMtube	muscle
3	chr21:16662000-16670200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr21:16662400-16665800	Enhancers	Placenta	Placenta
5	chr21:16662400-16666000	Enhancers	Fetal Intestine Large	intestine
6	chr21:16662600-16666000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr21:16662600-16666400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr21:16662800-16663600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr21:16662800-16663600	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr21:16662800-16664400	Weak transcription	Esophagus	oesophagus
11	chr21:16662800-16666200	Enhancers	Stomach Mucosa	stomach
12	chr21:16663000-16664000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr21:16663000-16664000	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr21:16663000-16664000	Weak transcription	Fetal Muscle Leg	muscle
15	chr21:16663000-16664000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr21:16663000-16666200	Enhancers	HMEC	breast
17	chr21:16663200-16663800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr21:16663200-16664000	Weak transcription	Colonic Mucosa	Colon
19	chr21:16663200-16664200	Enhancers	HepG2	liver
20	chr21:16663200-16665400	Weak transcription	Fetal Stomach	stomach
21	chr21:16663200-16665600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr21:16663200-16665800	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr21:16663200-16665800	Enhancers	Fetal Intestine Small	intestine
24	chr21:16663200-16666200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr21:16663200-16674400	Weak transcription	Psoas Muscle	Psoas
26	chr21:16663400-16663800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr21:16663400-16663800	Weak transcription	Pancreas	Pancrea
28	chr21:16663400-16664200	Enhancers	Duodenum Mucosa	Duodenum
29	chr21:16663400-16664800	Weak transcription	Fetal Kidney	kidney
30	chr21:16663400-16665000	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr21:16663400-16665200	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr21:16663400-16665400	Weak transcription	K562	blood
33	chr21:16663400-16666000	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr21:16663400-16676400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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