Variant report

Variant	rs548750116
Chromosome Location	chr21:45148392-45148393
allele	G/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	HMGN3	chr21:45148254-45148870	K562	blood:	n/a	chr21:45148411-45148420
2	POLR2A	chr21:45147277-45149094	GM12892	blood:	n/a	n/a
3	POLR2A	chr21:45148283-45149187	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAX	chr21:45146633-45148919	NB4	blood:	n/a	chr21:45148531-45148540 chr21:45148566-45148581 chr21:45148190-45148199 chr21:45148571-45148578 chr21:45148568-45148583 chr21:45148570-45148579 chr21:45148570-45148580 chr21:45148533-45148542 chr21:45148532-45148539 chr21:45148531-45148541
5	ZNF263	chr21:45147349-45149233	HEK293-T-REx	kidney:	n/a	chr21:45148434-45148443 chr21:45148431-45148440 chr21:45148544-45148553
6	ZMIZ1	chr21:45148227-45149155	K562	blood:	n/a	n/a
7	BHLHE40	chr21:45148353-45148816	A549	lung:	n/a	n/a
8	SP1	chr21:45148299-45148884	GM12878	blood:	n/a	chr21:45148608-45148619 chr21:45148417-45148426 chr21:45148429-45148443
9	GABPA	chr21:45148292-45148925	A549	lung:	n/a	chr21:45148529-45148538
10	POU2F2	chr21:45148373-45148868	GM12878	blood:	n/a	chr21:45148393-45148405
11	FOSL1	chr21:45148177-45148727	K562	blood:	n/a	chr21:45148408-45148419 chr21:45148409-45148419 chr21:45148408-45148420 chr21:45148409-45148419 chr21:45148409-45148419 chr21:45148410-45148418 chr21:45148409-45148419
12	USF2	chr21:45148006-45148705	Hela-S3	cervix:	n/a	chr21:45148188-45148199
13	USF1	chr21:45148260-45148742	GM12878	blood:	n/a	n/a
14	EP300	chr21:45148051-45148825	A549	lung:	n/a	chr21:45148591-45148607
15	JUND	chr21:45148226-45148922	H1-hESC	embryonic stem cell:	n/a	chr21:45148409-45148419 chr21:45148408-45148420 chr21:45148408-45148419 chr21:45148409-45148419 chr21:45148409-45148419 chr21:45148410-45148418 chr21:45148409-45148419
16	MXI1	chr21:45147556-45149627	SK-N-SH	brain:	n/a	n/a
17	TCF12	chr21:45148157-45148978	SK-N-SH	brain:	n/a	chr21:45148372-45148380
18	FOS	chr21:45148184-45148909	HUVEC	blood vessel:	n/a	chr21:45148409-45148419 chr21:45148408-45148420 chr21:45148409-45148419 chr21:45148409-45148419 chr21:45148408-45148419 chr21:45148410-45148418 chr21:45148409-45148419
19	NR3C1	chr21:45148241-45148530	ECC-1	luminal epithelium:	n/a	chr21:45148409-45148418 chr21:45148312-45148325 chr21:45148410-45148419
20	MAX	chr21:45146914-45148973	HCT-116	colon:	n/a	chr21:45148531-45148540 chr21:45148566-45148581 chr21:45148190-45148199 chr21:45148571-45148578 chr21:45148568-45148583 chr21:45148570-45148579 chr21:45148570-45148580 chr21:45148533-45148542 chr21:45148532-45148539 chr21:45148531-45148541
21	BCLAF1	chr21:45148295-45149208	GM12878	blood:	n/a	chr21:45148987-45148996 chr21:45148979-45148992 chr21:45148448-45148461 chr21:45148948-45148961
22	MAX	chr21:45148025-45149101	K562	blood:	n/a	chr21:45148531-45148540 chr21:45148566-45148581 chr21:45148190-45148199 chr21:45148571-45148578 chr21:45148568-45148583 chr21:45148570-45148579 chr21:45148570-45148580 chr21:45148533-45148542 chr21:45148532-45148539 chr21:45148531-45148541
23	YY1	chr21:45148306-45148927	K562	blood:	n/a	n/a
24	IKZF1	chr21:45148198-45148875	GM12878	blood:	n/a	n/a
25	POLR2A	chr21:45148217-45148987	GM12878	blood:	n/a	n/a
26	USF1	chr21:45147985-45148748	SK-N-SH_RA	brain:	n/a	n/a
27	SMC3	chr21:45148135-45148664	Hela-S3	cervix:	n/a	n/a
28	NR3C1	chr21:45148235-45148751	A549	lung:	n/a	chr21:45148409-45148418 chr21:45148312-45148325 chr21:45148410-45148419
29	CHD2	chr21:45148254-45148990	GM12878	blood:	n/a	n/a
30	YY1	chr21:45148293-45149196	K562	blood:	n/a	chr21:45148979-45148993
31	RCOR1	chr21:45148137-45148882	K562	blood:	n/a	n/a
32	NR3C1	chr21:45148033-45148792	A549	lung:	n/a	chr21:45148409-45148418 chr21:45148312-45148325 chr21:45148410-45148419
33	MYC	chr21:45148332-45148809	GM12878	blood:	n/a	chr21:45148531-45148540 chr21:45148566-45148581 chr21:45148571-45148578 chr21:45148568-45148583 chr21:45148570-45148579 chr21:45148570-45148580 chr21:45148533-45148542 chr21:45148532-45148539 chr21:45148531-45148541
34	CEBPB	chr21:45148384-45149001	GM12878	blood:	n/a	n/a
35	GATA3	chr21:45147247-45148950	A549	lung:	n/a	chr21:45147517-45147525 chr21:45147247-45147257
36	RELA	chr21:45148270-45148952	GM19193	blood:	n/a	n/a
37	PML	chr21:45148053-45148964	K562	blood:	n/a	n/a
38	MYC	chr21:45148264-45148894	K562	blood:	n/a	chr21:45148531-45148540 chr21:45148566-45148581 chr21:45148571-45148578 chr21:45148568-45148583 chr21:45148570-45148579 chr21:45148570-45148580 chr21:45148533-45148542 chr21:45148532-45148539 chr21:45148531-45148541
39	RELA	chr21:45148254-45148907	GM10847	blood:	n/a	n/a
40	GATA2	chr21:45148350-45148814	HUVEC	blood vessel:	n/a	n/a
41	JUND	chr21:45148206-45148999	A549	lung:	n/a	chr21:45148409-45148419 chr21:45148408-45148420 chr21:45148408-45148419 chr21:45148409-45148419 chr21:45148409-45148419 chr21:45148953-45148962 chr21:45148410-45148418 chr21:45148409-45148419
42	MYC	chr21:45146778-45148912	NB4	blood:	n/a	chr21:45148531-45148540 chr21:45148566-45148581 chr21:45148190-45148199 chr21:45148571-45148578 chr21:45148568-45148583 chr21:45148570-45148579 chr21:45148570-45148580 chr21:45148533-45148542 chr21:45148532-45148539 chr21:45148531-45148541
43	PML	chr21:45148355-45148807	GM12878	blood:	n/a	n/a
44	RFX5	chr21:45148204-45148636	Hela-S3	cervix:	n/a	n/a
45	MAX	chr21:45147321-45149596	HepG2	liver:	n/a	chr21:45148531-45148540 chr21:45148566-45148581 chr21:45148190-45148199 chr21:45148571-45148578 chr21:45148568-45148583 chr21:45148570-45148579 chr21:45148570-45148580 chr21:45149136-45149146 chr21:45148533-45148542 chr21:45148532-45148539 chr21:45148531-45148541
46	POLR2A	chr21:45148112-45148959	K562	blood:	n/a	n/a
47	USF1	chr21:45147832-45148870	HCT-116	colon:	n/a	chr21:45147869-45147885
48	MAFK	chr21:45148276-45148814	IMR90	lung:	n/a	n/a
49	POLR2A	chr21:45148207-45148916	HUVEC	blood vessel:	n/a	n/a
50	MAFK	chr21:45148088-45148784	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:45147195..45149472-chr21:45196303..45198972,2	K562	blood:
2	chr21:45147353..45150091-chr21:45163613..45167274,4	K562	blood:
3	chr21:45145345..45148604-chr21:45164623..45167520,3	MCF-7	breast:
4	chr21:44297829..44300678-chr21:45147311..45150231,2	K562	blood:
5	chr21:45146427..45148749-chr21:45209148..45210811,2	K562	blood:
6	chr21:45138878..45139799-chr21:45148124..45149007,3	K562	blood:
7	chr21:45146930..45150669-chr21:45163613..45169103,5	K562	blood:

Variant related genes	Relation type
PDXK	TF binding region
ENSG00000160193	Chromatin interaction
ENSG00000160214	Chromatin interaction
ENSG00000160209	Chromatin interaction
ENSG00000160213	Chromatin interaction
ENSG00000160194	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:19 , 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	esv3355588	chr21:45144624-45148822	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
16	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
17	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
18	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
19	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45141200-45148600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr21:45144000-45148800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr21:45144200-45148400	Enhancers	Pancreas	Pancrea
4	chr21:45145200-45148400	Enhancers	HUVEC	blood vessel
5	chr21:45145200-45149400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr21:45145200-45149600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr21:45145400-45148400	Enhancers	Esophagus	oesophagus
8	chr21:45145400-45148400	Enhancers	Lung	lung
9	chr21:45145600-45148600	Enhancers	Stomach Mucosa	stomach
10	chr21:45145600-45148800	Enhancers	Placenta Amnion	Placenta Amnion
11	chr21:45146000-45163600	Weak transcription	Dnd41	blood
12	chr21:45146400-45148400	Enhancers	Aorta	Aorta
13	chr21:45146400-45148400	Enhancers	Psoas Muscle	Psoas
14	chr21:45146400-45148400	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr21:45146600-45148400	Flanking Active TSS	Brain Hippocampus Middle	brain
16	chr21:45146600-45148400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
17	chr21:45146600-45148800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr21:45146600-45148800	Flanking Active TSS	Hela-S3	cervix
19	chr21:45146600-45149400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr21:45146600-45149400	Enhancers	Small Intestine	intestine
21	chr21:45146600-45149600	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr21:45146600-45149600	Enhancers	Gastric	stomach
23	chr21:45146800-45148400	Flanking Active TSS	HepG2	liver
24	chr21:45146800-45148400	Flanking Active TSS	HSMM	muscle
25	chr21:45146800-45149400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr21:45146800-45149600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr21:45147000-45148400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr21:45147000-45148400	Flanking Active TSS	Osteobl	bone
29	chr21:45147000-45148800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
30	chr21:45147000-45149200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
31	chr21:45147200-45148400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr21:45147400-45148400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr21:45147400-45148400	Flanking Active TSS	Colon Smooth Muscle	Colon
34	chr21:45147400-45148400	Flanking Active TSS	HSMMtube	muscle
35	chr21:45147400-45148600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr21:45147400-45148800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr21:45147400-45149600	Flanking Active TSS	Duodenum Mucosa	Duodenum
38	chr21:45147400-45149600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr21:45147400-45149600	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr21:45147600-45148400	Flanking Active TSS	Brain Anterior Caudate	brain
41	chr21:45147600-45148400	Flanking Active TSS	Brain Cingulate Gyrus	brain
42	chr21:45147600-45148400	Flanking Active TSS	A549	lung
43	chr21:45147600-45148400	Flanking Active TSS	K562	blood
44	chr21:45147600-45148600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr21:45147600-45149200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr21:45147800-45148400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr21:45147800-45148400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr21:45147800-45148400	Flanking Active TSS	Colonic Mucosa	Colon
49	chr21:45147800-45148400	Flanking Active TSS	Fetal Intestine Large	intestine
50	chr21:45147800-45148400	Flanking Active TSS	Rectal Smooth Muscle	rectum

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