Variant report

Variant	rs2187314
Chromosome Location	chr21:45553430-45553431
allele	A/C
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	TAF1	chr21:45552747-45553889	H1-hESC	embryonic stem cell:	n/a	n/a
2	NR2F2	chr21:45552715-45554722	K562	blood:	n/a	n/a
3	POU2F2	chr21:45552798-45553796	GM12891	blood:	n/a	n/a
4	TAF1	chr21:45552948-45553900	H1-neurons	neurons:	n/a	n/a
5	CEBPB	chr21:45552821-45553715	GM12878	blood:	n/a	n/a
6	POLR2A	chr21:45552946-45554114	GM12891	blood:	n/a	n/a
7	ELF1	chr21:45553082-45553719	HepG2	liver:	n/a	chr21:45553408-45553420
8	POLR2A	chr21:45552917-45554002	GM18505	blood:	n/a	n/a
9	ZBTB7A	chr21:45552897-45554048	K562	blood:	n/a	chr21:45553041-45553050
10	MYC	chr21:45553006-45553712	H1-hESC	embryonic stem cell:	n/a	chr21:45553414-45553424
11	POLR2A	chr21:45552985-45554041	IMR90	lung:	n/a	n/a
12	MBD4	chr21:45553057-45553679	HepG2	liver:	n/a	n/a
13	POLR2A	chr21:45551256-45555474	HepG2	liver:	n/a	n/a
14	PML	chr21:45552790-45553932	MCF-7	breast:	n/a	n/a
15	ATF2	chr21:45553079-45553521	GM12878	blood:	n/a	n/a
16	ZNF143	chr21:45553327-45553645	H1-hESC	embryonic stem cell:	n/a	n/a
17	E2F6	chr21:45552773-45554110	K562	blood:	n/a	chr21:45553484-45553493 chr21:45553290-45553299 chr21:45553404-45553414 chr21:45553402-45553411
18	ZNF384	chr21:45552777-45553445	GM12878	blood:	n/a	n/a
19	MAX	chr21:45552843-45553996	HCT-116	colon:	n/a	chr21:45553414-45553424
20	MAZ	chr21:45553160-45553734	HepG2	liver:	n/a	chr21:45553414-45553424
21	STAT3	chr21:45553186-45553564	MCF10A-Er-Src	breast:	n/a	chr21:45553376-45553385 chr21:45553292-45553304 chr21:45553373-45553387 chr21:45553370-45553390 chr21:45553374-45553385 chr21:45553376-45553384 chr21:45553375-45553384
22	NRF1	chr21:45553221-45553645	HepG2	liver:	n/a	chr21:45553398-45553412 chr21:45553401-45553415 chr21:45553480-45553494 chr21:45553401-45553410 chr21:45553482-45553493 chr21:45553290-45553299 chr21:45553483-45553492 chr21:45553415-45553424 chr21:45553401-45553412 chr21:45553483-45553494 chr21:45553483-45553497
23	JUND	chr21:45553015-45553967	K562	blood:	n/a	chr21:45553175-45553183 chr21:45553032-45553046
24	ELK4	chr21:45553133-45553610	Hela-S3	cervix:	n/a	chr21:45553357-45553368
25	POLR2A	chr21:45552825-45553967	HUVEC	blood vessel:	n/a	n/a
26	POLR2A	chr21:45552990-45553781	GM12891	blood:	n/a	n/a
27	STAT1	chr21:45553123-45553752	GM12878	blood:	n/a	chr21:45553376-45553385 chr21:45553292-45553304 chr21:45553373-45553387 chr21:45553370-45553390 chr21:45553376-45553384 chr21:45553375-45553384
28	TAF1	chr21:45553018-45553775	GM12878	blood:	n/a	n/a
29	EP300	chr21:45553091-45553692	GM12878	blood:	n/a	chr21:45553411-45553420
30	TEAD4	chr21:45552929-45553804	K562	blood:	n/a	n/a
31	MXI1	chr21:45553014-45553808	K562	blood:	n/a	n/a
32	POLR2A	chr21:45552837-45553873	PANC-1	pancreas:	n/a	n/a
33	YY1	chr21:45553014-45553939	ECC-1	luminal epithelium:	n/a	chr21:45553290-45553299 chr21:45553413-45553427 chr21:45553296-45553307
34	TAF1	chr21:45552999-45554089	HepG2	liver:	n/a	n/a
35	POLR2A	chr21:45552842-45554119	K562	blood:	n/a	n/a
36	PBX3	chr21:45552803-45553778	SK-N-SH	brain:	n/a	n/a
37	YY1	chr21:45553110-45553902	ECC-1	luminal epithelium:	n/a	chr21:45553290-45553299 chr21:45553413-45553427 chr21:45553296-45553307
38	STAT5A	chr21:45552816-45553840	K562	blood:	n/a	chr21:45553376-45553385 chr21:45553292-45553304 chr21:45553373-45553387 chr21:45553370-45553390 chr21:45553376-45553384 chr21:45553375-45553384
39	USF1	chr21:45553182-45553701	SK-N-SH_RA	brain:	n/a	n/a
40	MYC	chr21:45552966-45553860	NB4	blood:	n/a	chr21:45553414-45553424
41	POLR2A	chr21:45552897-45553876	HEK293	kidney:	n/a	n/a
42	POLR2A	chr21:45551223-45554970	PFSK-1	brain:	n/a	n/a
43	JUND	chr21:45552826-45554071	MCF-7	breast:	n/a	chr21:45553175-45553183 chr21:45553032-45553046
44	POLR2A	chr21:45551345-45553894	PANC-1	pancreas:	n/a	n/a
45	POLR2A	chr21:45553050-45553867	HepG2	liver:	n/a	n/a
46	YY1	chr21:45552939-45553901	SK-N-SH_RA	brain:	n/a	chr21:45553290-45553299 chr21:45553413-45553427 chr21:45553296-45553307
47	ELK1	chr21:45553123-45553727	Hela-S3	cervix:	n/a	n/a
48	TAL1	chr21:45553072-45553745	K562	blood:	n/a	n/a
49	POLR2A	chr21:45552851-45554127	ECC-1	luminal epithelium:	n/a	n/a
50	HCFC1	chr21:45552844-45554068	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:45551285..45553710-chr21:45659921..45662248,2	MCF-7	breast:
2	chr21:45551834..45580791-chr21:45711953..45732193,97	MCF-7	breast:
3	chr19:8509763..8510323-chr21:45552666..45553666,2	Hela-S3	cervix:
4	chr21:45552294..45556513-chr21:45714520..45720755,9	K562	blood:
5	chr21:45525797..45531105-chr21:45550576..45555096,10	MCF-7	breast:
6	chr21:45551760..45557176-chr21:45717626..45723007,13	MCF-7	breast:
7	chr21:45552797..45553560-chr7:8009439..8010048,2	Hela-S3	cervix:
8	chr21:45553140..45553853-chr8:145550264..145550779,2	HCT-116	colon:
9	chr21:45553374..45555215-chr21:45757736..45759429,2	K562	blood:
10	chr21:45551956..45555178-chr21:45594619..45596938,3	MCF-7	breast:
11	chr21:45431683..45433635-chr21:45552005..45554023,2	K562	blood:
12	chr21:45553290..45555675-chr21:46493657..46496135,2	K562	blood:
13	chr21:45552255..45555608-chr21:45751000..45753544,3	K562	blood:
14	chr21:45553332..45554916-chr7:44836495..44838995,2	K562	blood:
15	chr21:45552120..45555319-chr21:45756917..45761085,4	MCF-7	breast:
16	chr21:45551466..45554089-chr21:45749737..45751999,2	MCF-7	breast:
17	chr21:45525708..45535025-chr21:45544493..45558414,30	MCF-7	breast:
18	chr21:45230413..45233240-chr21:45552025..45554993,2	MCF-7	breast:
19	chr21:45549496..45557767-chr21:45717764..45723476,12	K562	blood:

Variant related genes	Relation type
C21orf33	TF binding region
ENSG00000196262	Chromatin interaction
ENSG00000160226	Chromatin interaction
ENSG00000241728	Chromatin interaction
ENSG00000160223	Chromatin interaction
ENSG00000141959	Chromatin interaction
ENSG00000235374	Chromatin interaction
ENSG00000233108	Chromatin interaction
ENSG00000099783	Chromatin interaction
ENSG00000197381	Chromatin interaction
ENSG00000160218	Chromatin interaction
ENSG00000237604	Chromatin interaction
ENSG00000215458	Chromatin interaction
ENSG00000232969	Chromatin interaction
ENSG00000241945	Chromatin interaction
ENSG00000184441	Chromatin interaction
ENSG00000185000	Chromatin interaction
ENSG00000255902	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2516520	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4818883	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4819382	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs7283041	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs9982806	0.89[CEU][hapmap];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv913887	chr21:45344799-45670770	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv459293	chr21:45415913-45555079	Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv587721	chr21:45415913-45555079	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv1064420	chr21:45460089-45814986	Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
6	nsv544472	chr21:45460089-45814986	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	nsv432155	chr21:45479055-45772388	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
8	nsv913890	chr21:45482950-45603746	Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv459294	chr21:45499171-45595060	Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
10	nsv587722	chr21:45499171-45595060	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
11	nsv913891	chr21:45508561-45588518	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
12	nsv913892	chr21:45508561-45595060	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
13	nsv913893	chr21:45508561-45603746	Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
14	nsv913894	chr21:45508561-45627976	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
15	nsv913895	chr21:45528919-45595060	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
16	nsv913896	chr21:45528919-45603746	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
17	nsv913897	chr21:45528919-45640139	Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
18	esv1825445	chr21:45535566-45754936	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
19	esv1817474	chr21:45540607-45773102	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
20	nsv533679	chr21:45551026-45768578	Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45552000-45554000	Active TSS	Fetal Brain Female	brain
2	chr21:45552000-45554400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr21:45552200-45554000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr21:45552200-45554200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr21:45552200-45554400	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr21:45552200-45554400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr21:45552200-45554400	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr21:45552200-45554400	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr21:45552200-45555400	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr21:45552400-45553800	Active TSS	Primary T cells from cord blood	blood
11	chr21:45552400-45554200	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr21:45552400-45554200	Active TSS	HMEC	breast
13	chr21:45552400-45554400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr21:45552400-45554400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr21:45552400-45554400	Active TSS	GM12878-XiMat	blood
16	chr21:45552400-45554400	Active TSS	NHLF	lung
17	chr21:45552400-45554600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr21:45552400-45554600	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr21:45552400-45554600	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr21:45552400-45554600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr21:45552400-45554600	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr21:45552400-45554800	Active TSS	Psoas Muscle	Psoas
23	chr21:45552400-45555000	Active TSS	A549	lung
24	chr21:45552600-45553600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr21:45552600-45553600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr21:45552600-45553600	Active TSS	Stomach Smooth Muscle	stomach
27	chr21:45552600-45554000	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr21:45552600-45554000	Active TSS	Brain Germinal Matrix	brain
29	chr21:45552600-45554000	Active TSS	HUVEC	blood vessel
30	chr21:45552600-45554200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr21:45552600-45554200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr21:45552600-45554200	Active TSS	Brain Hippocampus Middle	brain
33	chr21:45552600-45554200	Active TSS	Fetal Intestine Large	intestine
34	chr21:45552600-45554200	Active TSS	Rectal Smooth Muscle	rectum
35	chr21:45552600-45554200	Active TSS	NH-A	brain
36	chr21:45552600-45554400	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr21:45552600-45554400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr21:45552600-45554400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr21:45552600-45554400	Active TSS	HSMM	muscle
40	chr21:45552600-45554400	Active TSS	HSMMtube	muscle
41	chr21:45552600-45554400	Active TSS	K562	blood
42	chr21:45552600-45554400	Active TSS	NHDF-Ad	bronchial
43	chr21:45552600-45554400	Active TSS	NHEK	skin
44	chr21:45552600-45554400	Active TSS	Osteobl	bone
45	chr21:45552600-45554600	Active TSS	H1 Cell Line	embryonic stem cell
46	chr21:45552600-45554600	Active TSS	H9 Cell Line	embryonic stem cell
47	chr21:45552600-45554600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr21:45552600-45554600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr21:45552600-45554600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr21:45552600-45554600	Active TSS	HepG2	liver

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