Variant report

Variant	rs2823207
Chromosome Location	chr21:16663004-16663005
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:16436833..16438926-chr21:16661522..16663298,2	MCF-7	breast:
2	chr21:16569254..16574166-chr21:16662821..16666093,6	MCF-7	breast:
3	chr21:16662853..16665318-chr21:16789620..16791689,2	MCF-7	breast:
4	chr21:16575011..16578774-chr21:16661740..16665186,4	MCF-7	breast:
5	chr21:16581111..16587442-chr21:16661859..16666667,10	MCF-7	breast:
6	chr21:16662884..16665504-chr21:16853719..16855454,2	MCF-7	breast:
7	chr21:16656272..16660929-chr21:16661608..16666085,6	MCF-7	breast:
8	chr21:16577077..16584288-chr21:16662087..16667374,8	MCF-7	breast:
9	chr21:16235915..16238127-chr21:16662847..16665093,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000180530	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs12483065	0.89[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs13049627	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1474513	0.89[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs1474514	0.89[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs2142237	0.85[ASN][1000 genomes]
rs2823209	0.89[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs2823211	0.89[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs2823212	1.00[YRI][hapmap]
rs2823214	0.85[ASN][1000 genomes]
rs2823215	0.85[ASN][1000 genomes]
rs2823216	0.85[ASN][1000 genomes]
rs2823217	0.84[ASN][1000 genomes]
rs2823219	0.89[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs2823221	0.83[ASN][1000 genomes]
rs2823230	0.81[ASN][1000 genomes]
rs926133	0.83[ASN][1000 genomes]
rs982774	0.89[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs982775	0.89[CHB][hapmap];0.95[JPT][hapmap];0.83[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2823207	CXADR	cis	cerebellum	SCAN

Chromatin state (count:37 , 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	chr21:16662200-16663400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr21:16662400-16663400	Active TSS	Duodenum Mucosa	Duodenum
6	chr21:16662400-16665800	Enhancers	Placenta	Placenta
7	chr21:16662400-16666000	Enhancers	Fetal Intestine Large	intestine
8	chr21:16662600-16663200	Enhancers	H1 Cell Line	embryonic stem cell
9	chr21:16662600-16663200	Enhancers	Fetal Stomach	stomach
10	chr21:16662600-16663200	Enhancers	Lung	lung
11	chr21:16662600-16663200	Flanking Active TSS	Pancreas	Pancrea
12	chr21:16662600-16663200	Flanking Active TSS	HepG2	liver
13	chr21:16662600-16663400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr21:16662600-16666000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr21:16662600-16666400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr21:16662800-16663200	Active TSS	Colonic Mucosa	Colon
17	chr21:16662800-16663200	Active TSS	Fetal Intestine Small	intestine
18	chr21:16662800-16663200	Enhancers	Gastric	stomach
19	chr21:16662800-16663200	Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr21:16662800-16663400	Active TSS	Brain Substantia Nigra	brain
21	chr21:16662800-16663400	Active TSS	Rectal Mucosa Donor 31	rectum
22	chr21:16662800-16663400	Active TSS	K562	blood
23	chr21:16662800-16663600	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr21:16662800-16663600	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr21:16662800-16664400	Weak transcription	Esophagus	oesophagus
26	chr21:16662800-16666200	Enhancers	Stomach Mucosa	stomach
27	chr21:16663000-16663200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr21:16663000-16663200	Enhancers	Psoas Muscle	Psoas
29	chr21:16663000-16663400	Active TSS	Muscle Satellite Cultured Cells	--
30	chr21:16663000-16663400	Active TSS	Brain Hippocampus Middle	brain
31	chr21:16663000-16663400	Active TSS	Rectal Mucosa Donor 29	rectum
32	chr21:16663000-16663400	Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr21:16663000-16664000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr21:16663000-16664000	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr21:16663000-16664000	Weak transcription	Fetal Muscle Leg	muscle
36	chr21:16663000-16664000	Weak transcription	Rectal Smooth Muscle	rectum
37	chr21:16663000-16666200	Enhancers	HMEC	breast

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