Variant report

Variant	rs6517611
Chromosome Location	chr21:17117449-17117450
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZMIZ1	chr21:17117446-17117493	K562	blood:	n/a	n/a
2	IRF1	chr21:17117350-17117528	K562	blood:	n/a	n/a
3	EGR1	chr21:17117369-17117545	K562	blood:	n/a	n/a
4	CEBPB	chr21:17117410-17117692	K562	blood:	n/a	n/a
5	ARID3A	chr21:17117317-17117631	K562	blood:	n/a	n/a
6	ZBTB7A	chr21:17117333-17117555	K562	blood:	n/a	n/a
7	POLR2A	chr21:17117258-17117527	K562	blood:	n/a	n/a
8	POLR2A	chr21:17117275-17117661	K562	blood:	n/a	n/a
9	HCFC1	chr21:17117321-17117490	K562	blood:	n/a	n/a
10	TAL1	chr21:17117325-17117665	K562	blood:	n/a	n/a
11	MAZ	chr21:17117217-17117534	K562	blood:	n/a	n/a
12	RCOR1	chr21:17117219-17117629	K562	blood:	n/a	n/a
13	POLR2A	chr21:17117297-17117493	Hela-S3	cervix:	n/a	n/a
14	EP300	chr21:17117330-17117686	K562	blood:	n/a	n/a
15	RCOR1	chr21:17117385-17117478	K562	blood:	n/a	n/a
16	TBL1XR1	chr21:17117389-17117609	K562	blood:	n/a	n/a

Variant related genes	Relation type
RBPMSLP	TF binding region

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11910884	0.86[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs11911814	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1986788	0.83[AFR][1000 genomes]
rs1989381	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2205585	0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2223176	0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2245574	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2823467	0.84[AFR][1000 genomes]
rs2823469	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2823470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823472	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2823473	0.88[AFR][1000 genomes]
rs2823476	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2823482	0.91[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2823489	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2823493	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2823495	0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2823496	0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2823497	0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs28627435	0.87[AFR][1000 genomes]
rs28725201	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28730511	0.86[AFR][1000 genomes]
rs6517609	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6517612	0.87[AFR][1000 genomes]
rs6517613	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6517648	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6517652	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs722887	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7277813	0.86[AFR][1000 genomes]
rs7279157	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7279170	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7283707	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8127158	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8130607	0.87[AFR][1000 genomes]
rs8134327	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9941829	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9974210	0.84[AFR][1000 genomes]
rs9977000	0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs9981766	0.86[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs9982083	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9982479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9983458	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][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	esv1815433	chr21:17106192-17167353	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17104200-17133400	Weak transcription	Colonic Mucosa	Colon
2	chr21:17104600-17123400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr21:17105400-17119400	Weak transcription	Brain Angular Gyrus	brain
4	chr21:17105400-17125200	Weak transcription	Brain Substantia Nigra	brain
5	chr21:17109400-17121000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr21:17111600-17117800	Enhancers	K562	blood
7	chr21:17112600-17118000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr21:17112800-17123400	Weak transcription	Brain Hippocampus Middle	brain
9	chr21:17113400-17118200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr21:17113400-17123600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr21:17113400-17124800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr21:17114200-17121400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr21:17114400-17121400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr21:17114600-17121200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr21:17114600-17123800	Weak transcription	Brain Anterior Caudate	brain
16	chr21:17114800-17119400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr21:17114800-17120800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr21:17114800-17121000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr21:17114800-17121200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr21:17114800-17121200	Weak transcription	Fetal Lung	lung
21	chr21:17114800-17121200	Weak transcription	Hela-S3	cervix
22	chr21:17114800-17121400	Weak transcription	NHLF	lung
23	chr21:17114800-17121800	Weak transcription	Osteobl	bone
24	chr21:17114800-17126600	Weak transcription	Aorta	Aorta
25	chr21:17114800-17126600	Weak transcription	NH-A	brain
26	chr21:17115000-17120200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr21:17115000-17121000	Weak transcription	Fetal Heart	heart
28	chr21:17115000-17121200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr21:17115000-17121600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr21:17115000-17121600	Weak transcription	Stomach Mucosa	stomach
31	chr21:17115000-17122000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr21:17115000-17126600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr21:17115200-17120000	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr21:17115200-17120200	Weak transcription	Liver	Liver
35	chr21:17115200-17120400	Weak transcription	Small Intestine	intestine
36	chr21:17115200-17121000	Weak transcription	HUVEC	blood vessel
37	chr21:17115200-17121400	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr21:17115200-17122200	Weak transcription	HSMM	muscle
39	chr21:17115200-17130000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr21:17115400-17120000	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr21:17115400-17122200	Weak transcription	Psoas Muscle	Psoas
42	chr21:17115400-17122200	Weak transcription	Right Atrium	heart
43	chr21:17115400-17123400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr21:17115400-17145400	Weak transcription	Fetal Thymus	thymus
45	chr21:17115600-17118600	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr21:17115600-17133400	Weak transcription	Dnd41	blood
47	chr21:17115600-17139400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr21:17115800-17118200	Enhancers	Primary T cells fromperipheralblood	blood
49	chr21:17115800-17120000	Weak transcription	Primary B cells from peripheral blood	blood
50	chr21:17115800-17120000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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