Variant report

Variant	rs374246622
Chromosome Location	chr21:46311716-46311717
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:46311236-46311882	GM12878	blood:	n/a	n/a
2	ZEB1	chr21:46311544-46311790	GM12878	blood:	n/a	chr21:46311653-46311660 chr21:46311651-46311660
3	POLR2A	chr21:46308938-46311718	GM12878	blood:	n/a	n/a
4	POLR2A	chr21:46308198-46312270	HL-60	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46236519..46238760-chr21:46309714..46312621,3	MCF-7	breast:
2	chr21:46285482..46288366-chr21:46310550..46312529,2	K562	blood:
3	chr21:46308445..46311760-chr21:46312994..46317779,5	MCF-7	breast:
4	chr21:46288400..46294755-chr21:46304910..46312238,10	K562	blood:
5	chr21:46292148..46294278-chr21:46308549..46311972,5	MCF-7	breast:
6	chr21:46308444..46311023-chr21:46311109..46314097,2	K562	blood:
7	chr21:46302013..46304883-chr21:46310101..46313045,3	K562	blood:
8	chr21:46310744..46314052-chr21:46353302..46357037,3	K562	blood:
9	chr21:46220374..46222087-chr21:46311415..46314337,2	MCF-7	breast:
10	chr21:46305916..46307497-chr21:46310208..46311979,2	K562	blood:
11	chr21:46221113..46222920-chr21:46311601..46314491,2	K562	blood:
12	chr21:46311011..46312549-chr21:46331401..46334263,2	MCF-7	breast:

No data

Variant related genes	Relation type
ITGB2	TF binding region
ENSG00000184787	Chromatin interaction
ENSG00000184900	Chromatin interaction
ENSG00000160255	Chromatin interaction
ENSG00000236519	Chromatin interaction
ENSG00000183255	Chromatin interaction
ENSG00000272825	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv1062245	chr21:46096964-46332587	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers 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	51 gene(s)	inside rSNPs	diseases
3	nsv544478	chr21:46096964-46332587	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv913962	chr21:46223847-46321172	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS 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 lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv913965	chr21:46223847-46321172	Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv1058550	chr21:46227163-46317934	Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv1060233	chr21:46254075-46323401	Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription 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 miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv1056513	chr21:46254075-46442759	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv913969	chr21:46279505-46472929	Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	nsv544479	chr21:46280467-46323401	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
11	nsv470908	chr21:46298869-46335580	Flanking Active TSS Enhancers Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
12	nsv913970	chr21:46305175-46487831	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
13	nsv933240	chr21:46305956-46371518	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
14	nsv913971	chr21:46306161-46322487	Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
15	nsv459301	chr21:46306161-46322853	Bivalent Enhancer Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
16	nsv587815	chr21:46306161-46322853	Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
17	nsv913972	chr21:46306161-46322853	Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
18	nsv516593	chr21:46306161-46323731	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
19	nsv913973	chr21:46306161-46323731	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
20	nsv913974	chr21:46306161-46430792	Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
21	nsv913975	chr21:46306161-46459432	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
22	nsv913976	chr21:46306161-46487831	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
23	nsv587816	chr21:46307495-46322853	Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
24	nsv817935	chr21:46311264-46323731	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
25	nsv459302	chr21:46311264-46327835	Genic enhancers Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
26	nsv587817	chr21:46311264-46327835	Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46295600-46338800	Weak transcription	Right Atrium	heart
2	chr21:46298400-46326600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr21:46304600-46313000	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr21:46305400-46312000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr21:46305400-46312200	Strong transcription	Primary T helper cells PMA-I stimulated	--
6	chr21:46305400-46312200	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr21:46305400-46312200	Strong transcription	Fetal Thymus	thymus
8	chr21:46305400-46312600	Strong transcription	Primary T cells from cord blood	blood
9	chr21:46305400-46312600	Strong transcription	Thymus	Thymus
10	chr21:46305400-46312800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr21:46305400-46312800	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr21:46305400-46315000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr21:46305400-46315800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr21:46305400-46316600	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr21:46305400-46322400	Strong transcription	Dnd41	blood
16	chr21:46305400-46325000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr21:46305600-46311800	Strong transcription	Primary B cells from peripheral blood	blood
18	chr21:46305600-46311800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr21:46305800-46318800	Weak transcription	Gastric	stomach
20	chr21:46306000-46318400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr21:46306400-46317200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr21:46307000-46317600	Weak transcription	GM12878-XiMat	blood
23	chr21:46307200-46312000	Genic enhancers	Spleen	Spleen
24	chr21:46308200-46311800	Strong transcription	Lung	lung
25	chr21:46308200-46312600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr21:46308800-46316800	Weak transcription	Right Ventricle	heart
27	chr21:46309200-46312000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
28	chr21:46309400-46312200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr21:46309600-46312600	Weak transcription	Primary B cells from cord blood	blood
30	chr21:46310000-46311800	Strong transcription	Primary T killer memory cells from peripheral blood	blood
31	chr21:46310200-46313200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr21:46310400-46312800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr21:46310400-46316800	Genic enhancers	Primary T cells fromperipheralblood	blood
34	chr21:46311200-46312000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
35	chr21:46311200-46312200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr21:46311200-46313800	Enhancers	HepG2	liver
37	chr21:46311200-46316000	Weak transcription	Esophagus	oesophagus
38	chr21:46311200-46317600	Weak transcription	Primary hematopoietic stem cells	blood
39	chr21:46311400-46312800	Weak transcription	Liver	Liver
40	chr21:46311600-46312000	Bivalent Enhancer	Placenta	Placenta
41	chr21:46311600-46312200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr21:46311600-46312400	Bivalent Enhancer	Fetal Stomach	stomach
43	chr21:46311600-46313800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr21:46311600-46316400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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