Variant report

Variant	rs59510838
Chromosome Location	chr1:209924831-209924832
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	BCLAF1	chr1:209924809-209925780	GM12878	blood:	n/a	chr1:209925691-209925698
2	RUNX3	chr1:209924756-209925848	GM12878	blood:	n/a	n/a
3	ATF2	chr1:209924743-209925745	GM12878	blood:	n/a	n/a
4	NFATC1	chr1:209924797-209925722	GM12878	blood:	n/a	n/a
5	MEF2A	chr1:209924798-209925696	GM12878	blood:	n/a	chr1:209924807-209924828
6	CHD1	chr1:209924814-209925351	GM12878	blood:	n/a	n/a
7	STAT5A	chr1:209924769-209925797	GM12878	blood:	n/a	chr1:209925014-209925025 chr1:209925334-209925348
8	PML	chr1:209924792-209925908	GM12878	blood:	n/a	n/a
9	SP1	chr1:209924829-209925615	GM12878	blood:	n/a	chr1:209925161-209925175
10	SPI1	chr1:209924604-209925412	GM12878	blood:	n/a	n/a
11	ATF2	chr1:209924760-209925773	GM12878	blood:	n/a	n/a
12	MTA3	chr1:209924762-209925743	GM12878	blood:	n/a	n/a
13	SPI1	chr1:209924824-209925147	GM12891	blood:	n/a	n/a
14	FOXM1	chr1:209924721-209925874	GM12878	blood:	n/a	n/a
15	FOXM1	chr1:209924714-209925823	GM12878	blood:	n/a	n/a
16	MTA3	chr1:209924730-209925849	GM12878	blood:	n/a	n/a
17	IRF4	chr1:209924797-209925819	GM12878	blood:	n/a	n/a
18	BATF	chr1:209924750-209925876	GM12878	blood:	n/a	n/a
19	JUND	chr1:209924796-209925919	GM12878	blood:	n/a	chr1:209925565-209925573
20	IKZF1	chr1:209924755-209925835	GM12878	blood:	n/a	n/a
21	RUNX3	chr1:209924679-209925814	GM12878	blood:	n/a	n/a
22	NFIC	chr1:209924691-209925783	GM12878	blood:	n/a	n/a
23	NFATC1	chr1:209924803-209925740	GM12878	blood:	n/a	n/a
24	CREB1	chr1:209924807-209925908	GM12878	blood:	n/a	n/a
25	NFIC	chr1:209924693-209925934	GM12878	blood:	n/a	n/a
26	BATF	chr1:209924829-209925131	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:209754061..209755961-chr1:209923961..209926598,2	K562	blood:

Variant related genes	Relation type
TRAF3IP3	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs34540624	1.00[EUR][1000 genomes]
rs58161850	1.00[EUR][1000 genomes]
rs61578995	1.00[EUR][1000 genomes]
rs6664908	1.00[EUR][1000 genomes]
rs6693996	1.00[AMR][1000 genomes]
rs73091663	1.00[EUR][1000 genomes]
rs73091666	1.00[EUR][1000 genomes]
rs73091677	1.00[EUR][1000 genomes]
rs73091679	1.00[EUR][1000 genomes]
rs73091687	1.00[EUR][1000 genomes]
rs73091696	1.00[EUR][1000 genomes]
rs73093803	1.00[EUR][1000 genomes]
rs73093804	1.00[EUR][1000 genomes]
rs73093807	1.00[EUR][1000 genomes]
rs7533957	1.00[EUR][1000 genomes]
rs7555528	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873139	chr1:209828955-210050794	Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS 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	27 gene(s)	inside rSNPs	diseases
4	nsv1006632	chr1:209886202-209970355	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv1001588	chr1:209908876-209938243	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209921400-209925200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr1:209921400-209929800	Weak transcription	Right Atrium	heart
3	chr1:209921400-209930000	Weak transcription	Right Ventricle	heart
4	chr1:209921600-209926600	Enhancers	Primary T cells fromperipheralblood	blood
5	chr1:209921600-209926600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:209921600-209926800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr1:209921800-209925000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr1:209921800-209925400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:209921800-209925400	Weak transcription	K562	blood
10	chr1:209921800-209929600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:209921800-209930000	Weak transcription	Stomach Mucosa	stomach
12	chr1:209921800-209940800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:209921800-209942000	Weak transcription	Pancreas	Pancrea
14	chr1:209922000-209928800	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr1:209922200-209925000	Weak transcription	Fetal Intestine Large	intestine
16	chr1:209922400-209931200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:209923400-209925200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr1:209923400-209925200	Weak transcription	Fetal Intestine Small	intestine
19	chr1:209923800-209925000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr1:209923800-209926600	Enhancers	Primary B cells from cord blood	blood
21	chr1:209923800-209926600	Enhancers	Primary B cells from peripheral blood	blood
22	chr1:209924200-209925200	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr1:209924200-209925400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
24	chr1:209924200-209926000	Enhancers	Primary hematopoietic stem cells	blood
25	chr1:209924200-209926000	Enhancers	Duodenum Mucosa	Duodenum
26	chr1:209924400-209925000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:209924400-209925000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:209924600-209925600	Flanking Active TSS	Primary T cells from cord blood	blood
29	chr1:209924600-209926000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr1:209924600-209926000	Flanking Active TSS	GM12878-XiMat	blood
31	chr1:209924800-209925400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr1:209924800-209925400	Active TSS	Rectal Mucosa Donor 29	rectum
33	chr1:209924800-209925400	Enhancers	Thymus	Thymus
34	chr1:209924800-209925600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr1:209924800-209925800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr1:209924800-209925800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr1:209924800-209926000	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr1:209924800-209926000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr1:209924800-209926000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr1:209924800-209926000	Enhancers	Fetal Thymus	thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links