Variant report

Variant	rs6490436
Chromosome Location	chr13:30528998-30528999
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30522245..30525192-chr13:30528354..30530435,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11147404	0.89[ASN][1000 genomes]
rs11841228	0.96[ASN][1000 genomes]
rs12429187	0.88[ASN][1000 genomes]
rs12429599	0.88[ASN][1000 genomes]
rs12430579	0.88[ASN][1000 genomes]
rs12584184	0.89[ASN][1000 genomes]
rs12584938	0.81[ASN][1000 genomes]
rs1359475	0.94[CHB][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs2039952	0.88[ASN][1000 genomes]
rs4769789	0.80[CHB][hapmap];0.83[JPT][hapmap];0.88[ASN][1000 genomes]
rs481209	0.89[ASN][1000 genomes]
rs501259	0.89[ASN][1000 genomes]
rs502203	0.89[ASN][1000 genomes]
rs502944	0.89[ASN][1000 genomes]
rs533219	0.89[ASN][1000 genomes]
rs553661	0.89[ASN][1000 genomes]
rs564388	0.89[ASN][1000 genomes]
rs576712	0.96[ASN][1000 genomes]
rs641826	0.89[ASN][1000 genomes]
rs643508	0.89[ASN][1000 genomes]
rs644413	0.86[ASN][1000 genomes]
rs6490437	0.98[ASN][1000 genomes]
rs649164	0.90[ASN][1000 genomes]
rs655338	0.89[ASN][1000 genomes]
rs66986978	0.87[ASN][1000 genomes]
rs73159331	0.89[ASN][1000 genomes]
rs73159342	0.87[ASN][1000 genomes]
rs7327777	0.89[ASN][1000 genomes]
rs7332851	0.99[ASN][1000 genomes]
rs7333780	0.90[ASN][1000 genomes]
rs7334559	0.96[ASN][1000 genomes]
rs7334714	0.96[ASN][1000 genomes]
rs7358905	0.92[ASN][1000 genomes]
rs7982470	0.88[ASN][1000 genomes]
rs7982637	0.86[ASN][1000 genomes]
rs7983558	0.88[ASN][1000 genomes]
rs7990062	0.81[ASN][1000 genomes]
rs7994485	0.90[JPT][hapmap]
rs9314990	0.88[CHB][hapmap];0.82[ASN][1000 genomes]
rs9314991	0.88[CHB][hapmap];0.82[ASN][1000 genomes]
rs9314992	0.96[ASN][1000 genomes]
rs9506244	0.88[CHB][hapmap];0.82[ASN][1000 genomes]
rs9551791	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv510598	chr13:30476386-30542798	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30523200-30529400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr13:30527600-30529200	Enhancers	Fetal Thymus	thymus
3	chr13:30527600-30529600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr13:30528000-30529000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
5	chr13:30528000-30529000	Enhancers	Primary hematopoietic stem cells	blood
6	chr13:30528000-30529000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
7	chr13:30528000-30529000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr13:30528000-30529200	Flanking Active TSS	Primary T cells from cord blood	blood
9	chr13:30528000-30529600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
10	chr13:30528200-30529000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr13:30528200-30529000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
12	chr13:30528200-30529000	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr13:30528200-30529200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
14	chr13:30528400-30529000	Enhancers	Spleen	Spleen
15	chr13:30528600-30529000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
16	chr13:30528600-30529000	Flanking Active TSS	Liver	Liver
17	chr13:30528600-30529000	Flanking Active TSS	Duodenum Mucosa	Duodenum
18	chr13:30528600-30529000	Enhancers	Thymus	Thymus
19	chr13:30528600-30529200	Enhancers	Small Intestine	intestine
20	chr13:30528600-30529400	Bivalent Enhancer	HepG2	liver
21	chr13:30528600-30529600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr13:30528800-30529000	Enhancers	Primary B cells from peripheral blood	blood
23	chr13:30528800-30529000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
24	chr13:30528800-30529000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr13:30528800-30529000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr13:30528800-30529000	Enhancers	Fetal Brain Male	brain
27	chr13:30528800-30529200	Enhancers	Primary B cells from cord blood	blood
28	chr13:30528800-30529200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr13:30528800-30529600	Enhancers	Fetal Intestine Small	intestine
30	chr13:30528800-30530600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr13:30528800-30530600	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr13:30528800-30530800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr13:30528800-30530800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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