Variant report

Variant	rs543006847
Chromosome Location	chr21:45628029-45628030
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	chr21:45627805-45628187	HUVEC	blood vessel:	n/a	n/a
2	MAX	chr21:45627506-45628307	Hela-S3	cervix:	n/a	n/a
3	ATF1	chr21:45627754-45628197	K562	blood:	n/a	n/a
4	RCOR1	chr21:45626550-45628476	K562	blood:	n/a	n/a
5	JUND	chr21:45627519-45628259	Hela-S3	cervix:	n/a	chr21:45627641-45627651 chr21:45627641-45627651 chr21:45627641-45627651 chr21:45627642-45627650 chr21:45627642-45627649 chr21:45627641-45627651 chr21:45627642-45627650 chr21:45627640-45627652
6	CHD2	chr21:45626316-45628084	GM12878	blood:	n/a	n/a
7	MXI1	chr21:45625899-45628632	IMR90	lung:	n/a	chr21:45628228-45628237
8	POLR2A	chr21:45627884-45628034	Hela-S3	cervix:	n/a	n/a
9	STAT5A	chr21:45626594-45628389	GM12878	blood:	n/a	chr21:45627884-45627896 chr21:45628275-45628287 chr21:45627906-45627914 chr21:45628285-45628297
10	FOSL2	chr21:45627375-45628369	MCF-7	breast:	n/a	chr21:45627641-45627651 chr21:45627641-45627651 chr21:45627641-45627651 chr21:45627642-45627650 chr21:45627642-45627649 chr21:45627641-45627651 chr21:45627642-45627650 chr21:45627640-45627652
11	YY1	chr21:45627754-45628461	GM12878	blood:	n/a	chr21:45627995-45628009
12	CEBPB	chr21:45627914-45628489	IMR90	lung:	n/a	n/a
13	HMGN3	chr21:45627929-45628124	K562	blood:	n/a	n/a
14	JUND	chr21:45627648-45628418	SK-N-SH	brain:	n/a	chr21:45628409-45628418
15	ZKSCAN1	chr21:45627972-45628117	Hela-S3	cervix:	n/a	n/a
16	EP300	chr21:45627800-45628266	SK-N-SH_RA	brain:	n/a	n/a
17	POLR2A	chr21:45626617-45628208	GM18951	blood:	n/a	n/a
18	RCOR1	chr21:45627924-45628191	K562	blood:	n/a	n/a
19	BCLAF1	chr21:45626329-45628360	GM12878	blood:	n/a	chr21:45627372-45627381
20	TCF12	chr21:45627410-45628470	SK-N-SH	brain:	n/a	chr21:45627989-45627999 chr21:45627472-45627482 chr21:45627867-45627877 chr21:45628242-45628249 chr21:45628227-45628237
21	RUNX3	chr21:45626024-45628568	GM12878	blood:	n/a	n/a
22	RUNX3	chr21:45626073-45628581	GM12878	blood:	n/a	n/a
23	EP300	chr21:45627979-45628179	Hela-S3	cervix:	n/a	n/a
24	REST	chr21:45627723-45628256	PFSK-1	brain:	n/a	n/a
25	GATA3	chr21:45627822-45628450	MCF-7	breast:	n/a	n/a
26	MAX	chr21:45625973-45628650	MCF-7	breast:	n/a	n/a
27	POLR2A	chr21:45627975-45628049	MCF10A-Er-Src	breast:	n/a	n/a
28	ELF1	chr21:45627819-45628174	K562	blood:	n/a	n/a
29	RELA	chr21:45626408-45628501	GM12891	blood:	n/a	chr21:45627431-45627440 chr21:45627431-45627440
30	FOS	chr21:45627542-45628470	HUVEC	blood vessel:	n/a	chr21:45628049-45628060 chr21:45627641-45627651 chr21:45627641-45627651 chr21:45627641-45627651 chr21:45627642-45627650 chr21:45627642-45627649 chr21:45627641-45627651 chr21:45628409-45628418 chr21:45627642-45627650 chr21:45627640-45627652
31	POLR2A	chr21:45626498-45628461	GM12878	blood:	n/a	n/a
32	POLR2A	chr21:45627727-45628037	GM12878	blood:	n/a	n/a
33	POLR2A	chr21:45627759-45628240	K562	blood:	n/a	n/a
34	ZNF143	chr21:45628013-45628427	Hela-S3	cervix:	n/a	n/a
35	TCF3	chr21:45626550-45628490	GM12878	blood:	n/a	chr21:45627402-45627411 chr21:45628469-45628482 chr21:45627399-45627413 chr21:45628224-45628237
36	POLR2A	chr21:45625863-45629217	GM12878	blood:	n/a	n/a
37	GATA2	chr21:45627941-45628294	SH-SY5Y	brain:	n/a	n/a
38	MYC	chr21:45627902-45628279	K562	blood:	n/a	n/a
39	EP300	chr21:45627686-45628456	MCF-7	breast:	n/a	chr21:45628348-45628364
40	FOS	chr21:45627547-45628310	MCF10A-Er-Src	breast:	n/a	chr21:45628049-45628060 chr21:45627641-45627651 chr21:45627641-45627651 chr21:45627641-45627651 chr21:45627642-45627650 chr21:45627642-45627649 chr21:45627641-45627651 chr21:45627642-45627650 chr21:45627640-45627652
41	FOS	chr21:45627585-45628298	MCF10A-Er-Src	breast:	n/a	chr21:45628049-45628060 chr21:45627641-45627651 chr21:45627641-45627651 chr21:45627641-45627651 chr21:45627642-45627650 chr21:45627642-45627649 chr21:45627641-45627651 chr21:45627642-45627650 chr21:45627640-45627652
42	RAD21	chr21:45627888-45628187	SK-N-SH_RA	brain:	n/a	n/a
43	MAFK	chr21:45627970-45628157	Hela-S3	cervix:	n/a	n/a
44	HDAC2	chr21:45627936-45628228	K562	blood:	n/a	n/a
45	HDAC2	chr21:45626076-45628621	MCF-7	breast:	n/a	chr21:45627285-45627304
46	POLR2A	chr21:45625793-45629546	PFSK-1	brain:	n/a	n/a
47	FOXP2	chr21:45627713-45628281	PFSK-1	brain:	n/a	n/a
48	POLR2A	chr21:45627888-45628146	SK-N-SH	brain:	n/a	n/a
49	POU2F2	chr21:45626569-45628137	GM12891	blood:	n/a	n/a
50	STAT3	chr21:45627888-45628140	MCF10A-Er-Src	breast:	n/a	chr21:45627906-45627914

No.	Distal block	Cell Line	Cell type
1	chr21:45621014..45624737-chr21:45625090..45629806,7	K562	blood:
2	chr21:45621014..45626357-chr21:45626432..45630019,5	K562	blood:
3	chr21:45625593..45629065-chr21:45717787..45720760,5	MCF-7	breast:
4	chr21:45555886..45558409-chr21:45626511..45629056,2	MCF-7	breast:
5	chr21:45590531..45598113-chr21:45625237..45630055,9	MCF-7	breast:
6	chr21:45619816..45631884-chr21:45656529..45663802,30	MCF-7	breast:
7	chr2:85664771..85665446-chr21:45627770..45628304,2	Hela-S3	cervix:
8	chr21:45620311..45631567-chr21:45651002..45670824,52	MCF-7	breast:

Variant related genes	Relation type
ENSG00000232698	TF binding region
ENSG00000232010	Chromatin interaction
ENSG00000160223	Chromatin interaction
ENSG00000232124	Chromatin interaction
ENSG00000267913	Chromatin interaction
ENSG00000237604	Chromatin interaction
ENSG00000141959	Chromatin interaction
ENSG00000160221	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	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
2	nsv913887	chr21:45344799-45670770	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv1064420	chr21:45460089-45814986	Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv544472	chr21:45460089-45814986	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	nsv432155	chr21:45479055-45772388	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
6	nsv913897	chr21:45528919-45640139	Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	esv1825445	chr21:45535566-45754936	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	esv1817474	chr21:45540607-45773102	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
9	nsv533679	chr21:45551026-45768578	Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
10	nsv913898	chr21:45555079-45941566	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	74 gene(s)	inside rSNPs	diseases
11	nsv428042	chr21:45560437-45848190	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
12	nsv913900	chr21:45577102-45640139	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
13	nsv913901	chr21:45615741-45665330	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	nsv913902	chr21:45615741-45709153	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
15	esv1798512	chr21:45619474-45629565	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
16	esv1834007	chr21:45619474-45629565	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
17	nsv587738	chr21:45620353-45628374	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
18	nsv518543	chr21:45627976-45630608	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
19	nsv470906	chr21:45627976-45661343	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45622800-45629800	Enhancers	Placenta	Placenta
2	chr21:45623000-45629400	Enhancers	K562	blood
3	chr21:45623000-45629800	Enhancers	Fetal Muscle Leg	muscle
4	chr21:45624200-45628800	Enhancers	Fetal Stomach	stomach
5	chr21:45624600-45629200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr21:45624800-45628200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr21:45625200-45629600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr21:45625400-45628400	Enhancers	Small Intestine	intestine
9	chr21:45625400-45628800	Enhancers	NHLF	lung
10	chr21:45625400-45629000	Enhancers	Fetal Thymus	thymus
11	chr21:45625400-45629400	Enhancers	Placenta Amnion	Placenta Amnion
12	chr21:45625400-45630200	Enhancers	Primary hematopoietic stem cells	blood
13	chr21:45625800-45628800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr21:45625800-45629200	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr21:45625800-45629600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr21:45626000-45628400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr21:45626000-45628400	Enhancers	Fetal Intestine Large	intestine
18	chr21:45626000-45628400	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr21:45626000-45628600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr21:45626000-45628600	Enhancers	Fetal Intestine Small	intestine
21	chr21:45626000-45628600	Enhancers	Pancreas	Pancrea
22	chr21:45626000-45628800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr21:45626000-45628800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr21:45626000-45628800	Enhancers	Lung	lung
25	chr21:45626000-45628800	Enhancers	Spleen	Spleen
26	chr21:45626000-45629000	Enhancers	Adipose Nuclei	Adipose
27	chr21:45626000-45629000	Flanking Active TSS	GM12878-XiMat	blood
28	chr21:45626000-45629200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
29	chr21:45626000-45629400	Enhancers	Esophagus	oesophagus
30	chr21:45626200-45628600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr21:45626200-45628600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr21:45626200-45628800	Enhancers	Left Ventricle	heart
33	chr21:45626200-45629000	Enhancers	Right Ventricle	heart
34	chr21:45626200-45629000	Enhancers	NHEK	skin
35	chr21:45626400-45628200	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr21:45626400-45628600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr21:45626400-45628800	Enhancers	Fetal Kidney	kidney
38	chr21:45626600-45628200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr21:45626600-45628400	Enhancers	Thymus	Thymus
40	chr21:45626600-45629800	Enhancers	HUVEC	blood vessel
41	chr21:45626800-45628600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr21:45626800-45628600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr21:45626800-45628600	Enhancers	Right Atrium	heart
44	chr21:45626800-45629000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr21:45626800-45629000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr21:45626800-45629200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr21:45626800-45630600	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr21:45627000-45628400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr21:45627000-45628600	Enhancers	Liver	Liver
50	chr21:45627000-45629000	Enhancers	Brain Substantia Nigra	brain

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