Variant report

Variant	rs138143993
Chromosome Location	chr21:45151125-45151126
allele	C/T
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	POLR2A	chr21:45151107-45151852	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:45150500..45152044-chr21:45185669..45188271,2	MCF-7	breast:

Variant related genes	Relation type
PDXK	TF binding region

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	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

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	chr21:45149200-45151200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr21:45149200-45151200	Enhancers	Stomach Mucosa	stomach
6	chr21:45149200-45152600	Strong transcription	Hela-S3	cervix
7	chr21:45149200-45153200	Enhancers	Primary T cells fromperipheralblood	blood
8	chr21:45149400-45151200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr21:45149400-45151200	Weak transcription	Small Intestine	intestine
10	chr21:45149400-45151400	Weak transcription	Psoas Muscle	Psoas
11	chr21:45149400-45153000	Weak transcription	Primary T cells from cord blood	blood
12	chr21:45149400-45153200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr21:45149400-45153400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr21:45149400-45157600	Weak transcription	Aorta	Aorta
15	chr21:45149400-45175400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr21:45149600-45151200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr21:45149600-45151200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr21:45149600-45151200	Enhancers	Duodenum Mucosa	Duodenum
19	chr21:45149600-45151200	Weak transcription	Esophagus	oesophagus
20	chr21:45149600-45151200	Weak transcription	Pancreas	Pancrea
21	chr21:45149600-45151200	Weak transcription	HSMM	muscle
22	chr21:45149600-45151200	Weak transcription	Osteobl	bone
23	chr21:45149600-45151400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr21:45149600-45151400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr21:45149600-45151400	Weak transcription	Brain Substantia Nigra	brain
26	chr21:45149600-45151400	Weak transcription	Gastric	stomach
27	chr21:45149600-45151400	Weak transcription	Left Ventricle	heart
28	chr21:45149600-45151400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr21:45149600-45151400	Weak transcription	Stomach Smooth Muscle	stomach
30	chr21:45149600-45151400	Weak transcription	Spleen	Spleen
31	chr21:45149600-45151600	Weak transcription	Primary B cells from peripheral blood	blood
32	chr21:45149600-45151600	Enhancers	Fetal Intestine Large	intestine
33	chr21:45149600-45151600	Enhancers	HMEC	breast
34	chr21:45149600-45151600	Weak transcription	NHDF-Ad	bronchial
35	chr21:45149600-45151800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr21:45149600-45151800	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr21:45149600-45151800	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr21:45149600-45151800	Enhancers	Adipose Nuclei	Adipose
39	chr21:45149600-45151800	Genic enhancers	Fetal Intestine Small	intestine
40	chr21:45149600-45151800	Weak transcription	Placenta	Placenta
41	chr21:45149600-45151800	Weak transcription	NH-A	brain
42	chr21:45149600-45152000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr21:45149600-45152600	Genic enhancers	A549	lung
44	chr21:45149600-45153200	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr21:45149600-45153200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr21:45149600-45153200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr21:45149600-45153200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr21:45149600-45153200	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr21:45149600-45153200	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr21:45149600-45153200	Weak transcription	Primary T helper cells fromperipheralblood	blood

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