Variant report

Variant	rs13052079
Chromosome Location	chr21:16393789-16393790
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:16384405..16386106-chr21:16392542..16394997,2	K562	blood:
2	chr21:16381268..16384536-chr21:16390453..16394487,3	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs2178893	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823003	0.95[ASN][1000 genomes]
rs2823026	1.00[CEU][hapmap];0.92[TSI][hapmap]
rs2823027	1.00[CEU][hapmap]
rs28574812	0.95[ASN][1000 genomes]
rs7281871	0.98[ASN][1000 genomes]
rs7282769	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7283762	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8132398	0.81[JPT][hapmap]
rs9305530	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060151	chr21:16295713-16435497	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv544378	chr21:16295713-16435497	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv834048	chr21:16324481-16489570	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv913411	chr21:16380025-16424421	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv527611	chr21:16382148-16399980	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv913412	chr21:16382148-16416811	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16360400-16402600	Weak transcription	Placenta	Placenta
2	chr21:16364800-16423000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr21:16368600-16414600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr21:16374800-16394600	Weak transcription	GM12878-XiMat	blood
5	chr21:16374800-16423200	Weak transcription	Colonic Mucosa	Colon
6	chr21:16376200-16401600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr21:16376600-16401800	Weak transcription	Fetal Muscle Leg	muscle
8	chr21:16378400-16400600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr21:16378600-16398200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr21:16378800-16406000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr21:16379000-16400400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr21:16379400-16400800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr21:16379400-16401200	Weak transcription	Small Intestine	intestine
14	chr21:16379600-16401600	Weak transcription	Right Ventricle	heart
15	chr21:16379600-16403000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr21:16379600-16414800	Weak transcription	Left Ventricle	heart
17	chr21:16379600-16414800	Weak transcription	Ovary	ovary
18	chr21:16379800-16399400	Weak transcription	Fetal Lung	lung
19	chr21:16379800-16406400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr21:16380600-16400000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr21:16380600-16400400	Weak transcription	Fetal Intestine Small	intestine
22	chr21:16380600-16414600	Weak transcription	Fetal Muscle Trunk	muscle
23	chr21:16381000-16400400	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr21:16381000-16403200	Weak transcription	Fetal Thymus	thymus
25	chr21:16381200-16404200	Weak transcription	Fetal Intestine Large	intestine
26	chr21:16381800-16403200	Weak transcription	Adipose Nuclei	Adipose
27	chr21:16382000-16414600	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr21:16382400-16401200	Weak transcription	Psoas Muscle	Psoas
29	chr21:16383000-16396400	Weak transcription	Hela-S3	cervix
30	chr21:16383200-16396000	Weak transcription	HSMMtube	muscle
31	chr21:16383400-16401200	Weak transcription	Primary B cells from peripheral blood	blood
32	chr21:16383400-16414600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr21:16383600-16397200	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr21:16383600-16397200	Weak transcription	HepG2	liver
35	chr21:16383600-16400600	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr21:16386000-16401000	Weak transcription	Primary B cells from cord blood	blood
37	chr21:16386000-16413200	Weak transcription	K562	blood
38	chr21:16386400-16394600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr21:16387000-16399600	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr21:16387000-16400000	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr21:16387600-16401400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr21:16388800-16400400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr21:16388800-16402200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr21:16388800-16402800	Weak transcription	Osteobl	bone
45	chr21:16388800-16407000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr21:16389000-16394400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr21:16389000-16400200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr21:16389000-16405800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr21:16389600-16397400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr21:16389800-16401600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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