Variant report

Variant	rs538514236
Chromosome Location	chr21:45153388-45153389
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:45153303-45154043	U87	brain:	n/a	n/a
2	POLR2A	chr21:45153187-45156066	A549	lung:	n/a	n/a
3	POLR2A	chr21:45153131-45153935	K562	blood:	n/a	n/a
4	POLR2A	chr21:45153184-45153517	K562	blood:	n/a	n/a
5	POLR2A	chr21:45153348-45153815	HepG2	liver:	n/a	n/a
6	POLR2A	chr21:45153248-45153934	IMR90	lung:	n/a	n/a
7	MXI1	chr21:45153139-45154057	IMR90	lung:	n/a	n/a
8	POLR2A	chr21:45153303-45154037	U87	brain:	n/a	n/a
9	POLR2A	chr21:45153382-45153691	GM12878	blood:	n/a	n/a
10	POLR2A	chr21:45153143-45153763	K562	blood:	n/a	n/a
11	EGR1	chr21:45153350-45153596	K562	blood:	n/a	chr21:45153435-45153450
12	POLR2A	chr21:45153266-45154645	GM12878	blood:	n/a	n/a
13	POLR2A	chr21:45153132-45153692	ECC-1	luminal epithelium:	n/a	n/a
14	POLR2A	chr21:45153159-45153543	A549	lung:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45077838..45080620-chr21:45152184..45154376,2	MCF-7	breast:
2	chr21:45152139..45163298-chr21:45164540..45174522,16	K562	blood:
3	chr21:45151886..45156250-chr21:45192617..45197213,5	MCF-7	breast:

No data

Variant related genes	Relation type
PDXK	TF binding region
ENSG00000160209	Chromatin interaction
ENSG00000160213	Chromatin interaction
ENSG00000160208	Chromatin interaction
ENSG00000160207	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv913874	chr21:45041790-45191005	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv531544	chr21:45071371-45202912	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv531545	chr21:45095397-45395904	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	esv3424986	chr21:45118675-45158421	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS 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	23 gene(s)	inside rSNPs	diseases
5	esv3329872	chr21:45118725-45158757	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv913875	chr21:45119629-45191005	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv913876	chr21:45119629-45267193	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription 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	46 gene(s)	inside rSNPs	diseases
8	nsv587701	chr21:45128190-45181446	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	nsv459290	chr21:45128454-45191139	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
10	nsv587702	chr21:45128454-45191139	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
11	nsv913877	chr21:45133868-45163689	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
12	nsv913878	chr21:45133868-45170285	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
13	esv2830066	chr21:45133868-45258047	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
14	esv1828675	chr21:45142427-45191139	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
15	nsv913879	chr21:45145286-45237039	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
16	nsv913880	chr21:45145286-45263920	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats 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	nsv913881	chr21:45145286-45267193	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
18	nsv1055154	chr21:45148076-45203162	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic 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	22 gene(s)	inside rSNPs	diseases
19	nsv470904	chr21:45151045-45258047	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
20	esv1827649	chr21:45151046-45160795	Weak transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
21	esv1828689	chr21:45151046-45160795	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
22	nsv913882	chr21:45151874-45370715	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
23	esv1829806	chr21:45152477-45172562	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45146000-45163600	Weak transcription	Dnd41	blood
2	chr21:45148800-45153400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr21:45149000-45194400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr21:45149400-45153400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr21:45149400-45157600	Weak transcription	Aorta	Aorta
6	chr21:45149400-45175400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr21:45149600-45153400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr21:45149600-45153400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr21:45149600-45154800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr21:45149600-45157800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr21:45149600-45159400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr21:45149600-45163600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr21:45149600-45163600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr21:45149600-45163800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr21:45149600-45164200	Weak transcription	Primary B cells from cord blood	blood
16	chr21:45149800-45157200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr21:45149800-45160200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr21:45149800-45164200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr21:45149800-45164400	Weak transcription	Fetal Kidney	kidney
20	chr21:45149800-45175200	Weak transcription	HUVEC	blood vessel
21	chr21:45149800-45188200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr21:45150000-45153400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr21:45150000-45153400	Weak transcription	Fetal Lung	lung
24	chr21:45150000-45153400	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr21:45150000-45153400	Weak transcription	K562	blood
26	chr21:45150000-45153600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr21:45150000-45158200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr21:45150000-45161600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr21:45150000-45163600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr21:45150000-45173200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr21:45150400-45154000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr21:45151000-45156400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr21:45151200-45153400	Enhancers	Esophagus	oesophagus
34	chr21:45151200-45154000	Genic enhancers	Primary monocytes fromperipheralblood	blood
35	chr21:45151200-45154000	Enhancers	Small Intestine	intestine
36	chr21:45151200-45154200	Enhancers	Fetal Muscle Leg	muscle
37	chr21:45151200-45156400	Enhancers	Fetal Brain Male	brain
38	chr21:45151400-45153400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr21:45151600-45154200	Enhancers	NHDF-Ad	bronchial
40	chr21:45151600-45155000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr21:45151600-45155400	Enhancers	Stomach Mucosa	stomach
42	chr21:45151800-45154000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr21:45151800-45155400	Enhancers	NH-A	brain
44	chr21:45152000-45153800	Strong transcription	GM12878-XiMat	blood
45	chr21:45152000-45154000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
46	chr21:45152000-45154400	Weak transcription	Primary B cells from peripheral blood	blood
47	chr21:45152000-45155200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr21:45152200-45153600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr21:45152200-45153600	Enhancers	Duodenum Mucosa	Duodenum
50	chr21:45152200-45153600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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