Variant report

Variant	rs9983401
Chromosome Location	chr21:45630599-45630600
allele	A/G
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	EBF1	chr21:45630356-45630651	GM12878	blood:	n/a	chr21:45630524-45630535

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:45619816..45631884-chr21:45656529..45663802,30	MCF-7	breast:
2	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

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs8128896	0.87[YRI][hapmap]
rs9974809	0.87[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9983407	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]

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	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	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
16	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
17	nsv587739	chr21:45628374-45640629	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
18	nsv517401	chr21:45629368-45630608	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
19	esv3373197	chr21:45629524-45634222	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
20	nsv459295	chr21:45629565-45849864	Genic enhancers Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
21	nsv587740	chr21:45629565-45849864	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45626800-45630600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr21:45627200-45631000	Enhancers	Primary B cells from cord blood	blood
3	chr21:45627600-45631600	Weak transcription	Gastric	stomach
4	chr21:45627800-45636600	Enhancers	Primary B cells from peripheral blood	blood
5	chr21:45628000-45630600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr21:45628000-45631400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr21:45628400-45632400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr21:45628600-45631400	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr21:45628600-45631800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr21:45628600-45632000	Weak transcription	Primary T cells from cord blood	blood
11	chr21:45628600-45632000	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr21:45628600-45632200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr21:45628600-45632400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr21:45628600-45638600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr21:45628600-45639400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr21:45628600-45659600	Weak transcription	Right Atrium	heart
17	chr21:45628800-45631400	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr21:45628800-45633400	Weak transcription	NHLF	lung
19	chr21:45628800-45646800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr21:45629000-45631600	Enhancers	GM12878-XiMat	blood
21	chr21:45629000-45638200	Weak transcription	HMEC	breast
22	chr21:45629200-45635800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr21:45629200-45637600	Weak transcription	Stomach Mucosa	stomach
24	chr21:45629400-45631800	Weak transcription	K562	blood
25	chr21:45629400-45633600	Weak transcription	Esophagus	oesophagus
26	chr21:45629600-45631400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr21:45629600-45631400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr21:45629600-45632000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr21:45629600-45632000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr21:45629600-45637800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr21:45629600-45638000	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr21:45629800-45635000	Weak transcription	Placenta	Placenta
33	chr21:45629800-45635000	Weak transcription	HUVEC	blood vessel
34	chr21:45629800-45636200	Weak transcription	Fetal Muscle Leg	muscle
35	chr21:45630200-45631400	Weak transcription	Primary hematopoietic stem cells	blood
36	chr21:45630400-45630600	Enhancers	Fetal Thymus	thymus
37	chr21:45630400-45630600	Flanking Active TSS	Spleen	Spleen

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