Variant report

Variant	rs533441138
Chromosome Location	chr21:45172573-45172574
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:45172569-45172579	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr21:45172184-45172613	HL-60	blood:	n/a	n/a
3	POLR2A	chr21:45172242-45172633	GM12891	blood:	n/a	n/a
4	POLR2A	chr21:45171948-45174002	GM12878	blood:	n/a	n/a
5	POLR2A	chr21:45172329-45174329	HepG2	liver:	n/a	n/a
6	STAT5A	chr21:45171281-45173359	K562	blood:	n/a	n/a
7	POLR2A	chr21:45171459-45180063	A549	lung:	n/a	n/a
8	POLR2A	chr21:45171342-45175119	K562	blood:	n/a	n/a
9	POLR2A	chr21:45171590-45174219	U87	brain:	n/a	n/a
10	POLR2A	chr21:45172237-45173494	U87	brain:	n/a	n/a
11	POLR2A	chr21:45172553-45173320	MCF-7	breast:	n/a	n/a
12	POLR2A	chr21:45172059-45172618	GM12892	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45154618..45156575-chr21:45170589..45173066,2	K562	blood:
2	chr21:45152139..45163298-chr21:45164540..45174522,16	K562	blood:
3	chr21:45164290..45167394-chr21:45171722..45175273,3	K562	blood:
4	chr21:45163023..45165790-chr21:45170856..45174314,3	K562	blood:

No data

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

Extended variants
information (count: 21 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:21 , 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	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	nsv834107	chr21:45155325-45294546	Enhancers Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
18	nsv587716	chr21:45160087-45176621	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
19	esv3370465	chr21:45168624-45172822	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
20	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
21	esv3372377	chr21:45172074-45174872	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45149000-45194400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr21:45149400-45175400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr21:45149800-45175200	Weak transcription	HUVEC	blood vessel
4	chr21:45149800-45188200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr21:45150000-45173200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr21:45152200-45183400	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr21:45152400-45173200	Weak transcription	Psoas Muscle	Psoas
8	chr21:45154400-45184200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr21:45154800-45174600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr21:45158200-45173800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr21:45160600-45185600	Strong transcription	Fetal Intestine Small	intestine
12	chr21:45160800-45187200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr21:45161000-45174400	Weak transcription	Fetal Heart	heart
14	chr21:45161200-45177200	Strong transcription	HepG2	liver
15	chr21:45161200-45183600	Strong transcription	Fetal Intestine Large	intestine
16	chr21:45161400-45176400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr21:45161400-45182200	Strong transcription	Rectal Mucosa Donor 31	rectum
18	chr21:45161400-45183200	Strong transcription	Placenta Amnion	Placenta Amnion
19	chr21:45161400-45185400	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr21:45161600-45174600	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr21:45161600-45176800	Strong transcription	Placenta	Placenta
22	chr21:45161600-45177000	Strong transcription	Osteobl	bone
23	chr21:45161600-45178000	Strong transcription	Duodenum Mucosa	Duodenum
24	chr21:45161600-45179000	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr21:45161600-45179400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr21:45161600-45183000	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr21:45161800-45174400	Strong transcription	Spleen	Spleen
28	chr21:45161800-45184800	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr21:45162000-45176200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr21:45162000-45177200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr21:45162000-45178000	Strong transcription	Lung	lung
32	chr21:45162000-45180000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr21:45162000-45185200	Weak transcription	Thymus	Thymus
34	chr21:45162200-45181600	Strong transcription	NHEK	skin
35	chr21:45162400-45176600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr21:45162400-45177000	Strong transcription	Fetal Stomach	stomach
37	chr21:45162400-45177600	Strong transcription	Colonic Mucosa	Colon
38	chr21:45162800-45174600	Strong transcription	Ovary	ovary
39	chr21:45163200-45176800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr21:45163200-45183400	Strong transcription	NHLF	lung
41	chr21:45163400-45174400	Strong transcription	Fetal Muscle Trunk	muscle
42	chr21:45163400-45176600	Strong transcription	Liver	Liver
43	chr21:45163400-45177000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr21:45163400-45177200	Strong transcription	Skeletal Muscle Male	skeletal muscle
45	chr21:45163600-45173000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr21:45163600-45174400	Strong transcription	Fetal Muscle Leg	muscle
47	chr21:45163600-45176800	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr21:45163600-45176800	Strong transcription	Fetal Brain Female	brain
49	chr21:45163600-45177000	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr21:45163600-45177200	Strong transcription	Brain Cingulate Gyrus	brain

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