Variant report

Variant	rs7279170
Chromosome Location	chr21:17104661-17104662
allele	A/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: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	chr21:17099652..17105374-chr21:17196149..17200245,6	MCF-7	breast:
2	chr21:17102987..17104761-chr21:17143817..17145697,2	K562	blood:
3	chr21:17104177..17106318-chr21:17123933..17125566,2	K562	blood:
4	chr21:16999755..17002610-chr21:17103802..17105409,2	MCF-7	breast:
5	chr21:17064915..17067118-chr21:17101217..17104804,3	MCF-7	breast:
6	chr21:17104010..17105531-chr21:17155055..17156862,2	K562	blood:
7	chr21:17104089..17106756-chr21:17109896..17112248,2	MCF-7	breast:
8	chr21:17103338..17105005-chr21:17169990..17172780,3	K562	blood:
9	chr21:17102020..17103667-chr21:17103702..17105250,2	K562	blood:
10	chr21:17103751..17105716-chr21:17107281..17109325,2	MCF-7	breast:
11	chr21:17104587..17106311-chr21:17139989..17141909,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000221497	Chromatin interaction
ENSG00000155313	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11910497	0.81[AFR][1000 genomes]
rs11910884	0.85[AFR][1000 genomes]
rs11911814	0.82[AMR][1000 genomes]
rs13347185	0.81[AFR][1000 genomes]
rs1989381	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2205585	0.85[AFR][1000 genomes]
rs2223176	0.85[AFR][1000 genomes]
rs2245574	0.80[AFR][1000 genomes]
rs2823467	0.88[AFR][1000 genomes]
rs2823469	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2823470	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2823472	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2823473	0.84[AFR][1000 genomes]
rs2823476	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2823482	0.89[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2823489	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2823493	0.82[AFR][1000 genomes]
rs2823495	0.83[AFR][1000 genomes]
rs2823496	0.85[AFR][1000 genomes]
rs2823497	0.83[AFR][1000 genomes]
rs28366797	0.81[AFR][1000 genomes]
rs28627435	0.88[AFR][1000 genomes]
rs28725201	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28730511	0.82[AFR][1000 genomes]
rs6517609	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6517611	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6517612	0.83[AFR][1000 genomes]
rs6517613	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6517648	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6517652	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs722887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7277813	0.85[AFR][1000 genomes]
rs7279157	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7283707	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8127158	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8130607	0.83[AFR][1000 genomes]
rs8134327	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9941829	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9974210	0.83[AFR][1000 genomes]
rs9977000	0.83[AFR][1000 genomes]
rs9981766	0.85[AFR][1000 genomes]
rs9982083	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9982479	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9983458	0.86[AMR][1000 genomes];0.85[EUR][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	esv2762093	chr21:16948663-17145770	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1064683	chr21:16954570-17145758	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv459099	chr21:16956866-17145011	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv587076	chr21:16956866-17145011	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription 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	16 gene(s)	inside rSNPs	diseases
5	nsv1062105	chr21:16956885-17141961	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv544380	chr21:16956885-17141961	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1059500	chr21:16957752-17145758	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	esv2830057	chr21:16960590-17113148	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17101600-17104800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr21:17101600-17104800	Active TSS	Colon Smooth Muscle	Colon
3	chr21:17101600-17105000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr21:17101600-17105000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr21:17101600-17105000	Active TSS	Fetal Intestine Small	intestine
6	chr21:17101600-17105000	Active TSS	NHDF-Ad	bronchial
7	chr21:17101600-17105200	Active TSS	H1 Cell Line	embryonic stem cell
8	chr21:17101600-17105200	Active TSS	Right Ventricle	heart
9	chr21:17101600-17105400	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr21:17101600-17105400	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr21:17101600-17105400	Active TSS	Stomach Smooth Muscle	stomach
12	chr21:17101600-17105600	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr21:17101600-17105800	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr21:17101600-17105800	Active TSS	K562	blood
15	chr21:17101800-17104800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr21:17101800-17105000	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr21:17101800-17105000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
18	chr21:17101800-17105000	Active TSS	Fetal Kidney	kidney
19	chr21:17101800-17105000	Active TSS	Fetal Stomach	stomach
20	chr21:17101800-17105000	Active TSS	Ovary	ovary
21	chr21:17101800-17105200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr21:17101800-17105200	Active TSS	Psoas Muscle	Psoas
23	chr21:17101800-17105200	Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr21:17101800-17105200	Active TSS	A549	lung
25	chr21:17101800-17105200	Active TSS	HSMM	muscle
26	chr21:17101800-17105400	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr21:17101800-17105400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr21:17101800-17105600	Active TSS	GM12878-XiMat	blood
29	chr21:17102000-17104800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr21:17102000-17104800	Active TSS	Fetal Muscle Leg	muscle
31	chr21:17102000-17105000	Active TSS	Primary T cells fromperipheralblood	blood
32	chr21:17102000-17105000	Active TSS	Adipose Nuclei	Adipose
33	chr21:17102000-17105000	Active TSS	Fetal Thymus	thymus
34	chr21:17102000-17105000	Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr21:17102000-17105000	Active TSS	Thymus	Thymus
36	chr21:17102000-17105000	Active TSS	HMEC	breast
37	chr21:17102000-17105000	Active TSS	HUVEC	blood vessel
38	chr21:17102000-17105000	Active TSS	NHEK	skin
39	chr21:17102000-17105200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr21:17102000-17105200	Active TSS	Placenta	Placenta
41	chr21:17102000-17105200	Active TSS	Rectal Smooth Muscle	rectum
42	chr21:17102000-17105200	Active TSS	HepG2	liver
43	chr21:17102000-17105200	Active TSS	HSMMtube	muscle
44	chr21:17102000-17105400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr21:17102000-17105400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr21:17102000-17105400	Active TSS	NHLF	lung
47	chr21:17102800-17104800	Active TSS	Fetal Heart	heart
48	chr21:17102800-17105400	Flanking Active TSS	Primary B cells from cord blood	blood
49	chr21:17102800-17105600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr21:17103000-17105000	Active TSS	Right Atrium	heart

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