Variant report

Variant	rs531100901
Chromosome Location	chr21:45151302-45151303
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
2	MAZ	chr21:45151288-45151778	HepG2	liver:	n/a	n/a
3	POLR2A	chr21:45151285-45151995	HepG2	liver:	n/a	n/a
4	SP1	chr21:45151245-45151858	HepG2	liver:	n/a	chr21:45151422-45151429
5	POLR2A	chr21:45151201-45152019	HepG2	liver:	n/a	n/a
6	HEY1	chr21:45151263-45151954	HepG2	liver:	n/a	n/a
7	POLR2A	chr21:45151196-45152107	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	chr21:45149200-45152600	Strong transcription	Hela-S3	cervix
5	chr21:45149200-45153200	Enhancers	Primary T cells fromperipheralblood	blood
6	chr21:45149400-45151400	Weak transcription	Psoas Muscle	Psoas
7	chr21:45149400-45153000	Weak transcription	Primary T cells from cord blood	blood
8	chr21:45149400-45153200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr21:45149400-45153400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr21:45149400-45157600	Weak transcription	Aorta	Aorta
11	chr21:45149400-45175400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr21:45149600-45151400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr21:45149600-45151400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr21:45149600-45151400	Weak transcription	Brain Substantia Nigra	brain
15	chr21:45149600-45151400	Weak transcription	Gastric	stomach
16	chr21:45149600-45151400	Weak transcription	Left Ventricle	heart
17	chr21:45149600-45151400	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr21:45149600-45151400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr21:45149600-45151400	Weak transcription	Spleen	Spleen
20	chr21:45149600-45151600	Weak transcription	Primary B cells from peripheral blood	blood
21	chr21:45149600-45151600	Enhancers	Fetal Intestine Large	intestine
22	chr21:45149600-45151600	Enhancers	HMEC	breast
23	chr21:45149600-45151600	Weak transcription	NHDF-Ad	bronchial
24	chr21:45149600-45151800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr21:45149600-45151800	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr21:45149600-45151800	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr21:45149600-45151800	Enhancers	Adipose Nuclei	Adipose
28	chr21:45149600-45151800	Genic enhancers	Fetal Intestine Small	intestine
29	chr21:45149600-45151800	Weak transcription	Placenta	Placenta
30	chr21:45149600-45151800	Weak transcription	NH-A	brain
31	chr21:45149600-45152000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr21:45149600-45152600	Genic enhancers	A549	lung
33	chr21:45149600-45153200	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr21:45149600-45153200	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr21:45149600-45153200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr21:45149600-45153200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr21:45149600-45153200	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr21:45149600-45153200	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr21:45149600-45153200	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr21:45149600-45153200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr21:45149600-45153400	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr21:45149600-45153400	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr21:45149600-45154800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr21:45149600-45157800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr21:45149600-45159400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr21:45149600-45163600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr21:45149600-45163600	Weak transcription	Rectal Smooth Muscle	rectum
48	chr21:45149600-45163800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr21:45149600-45164200	Weak transcription	Primary B cells from cord blood	blood
50	chr21:45149800-45151600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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