Variant report

Variant	rs2149853
Chromosome Location	chr13:30930188-30930189
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30929684..30931209-chr13:30944876..30947757,2	K562	blood:
2	chr13:30929197..30931514-chr13:30931945..30933696,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000238121	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1275179	0.85[EUR][1000 genomes]
rs1275180	0.86[EUR][1000 genomes]
rs1275181	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1291150	0.86[EUR][1000 genomes]
rs1621497	0.86[EUR][1000 genomes]
rs1754937	0.88[CEU][hapmap];0.96[EUR][1000 genomes]
rs17589894	0.80[EUR][1000 genomes]
rs202102	1.00[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs2149852	0.86[EUR][1000 genomes]
rs2152945	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2183284	0.98[EUR][1000 genomes]
rs2185008	0.84[CEU][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2185009	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2388536	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7997259	0.85[EUR][1000 genomes]
rs9578163	0.86[EUR][1000 genomes]
rs9578165	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9579558	0.81[CEU][hapmap];0.82[EUR][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	nsv530602	chr13:30911025-31404272	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv455853	chr13:30911531-30951514	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv561394	chr13:30911531-30951514	Enhancers Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30922200-30937800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr13:30924600-30940000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr13:30927800-30931400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr13:30927800-30939600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr13:30928000-30930600	Enhancers	Primary hematopoietic stem cells	blood
6	chr13:30928400-30930400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr13:30928400-30930600	Enhancers	Primary T cells fromperipheralblood	blood
8	chr13:30928600-30930200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr13:30928600-30930400	Enhancers	Primary B cells from cord blood	blood
10	chr13:30928600-30930600	Enhancers	Primary B cells from peripheral blood	blood
11	chr13:30928600-30930600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr13:30928800-30930400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr13:30928800-30930400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr13:30928800-30930400	Enhancers	Fetal Muscle Leg	muscle
15	chr13:30928800-30930600	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr13:30928800-30930600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr13:30928800-30930600	Enhancers	Fetal Muscle Trunk	muscle
18	chr13:30928800-30930800	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr13:30929000-30930200	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr13:30929000-30930400	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr13:30929200-30930600	Enhancers	Primary T cells from cord blood	blood
22	chr13:30929200-30930600	Flanking Active TSS	Dnd41	blood
23	chr13:30929200-30938000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr13:30929400-30933600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr13:30929400-30934600	Weak transcription	Right Atrium	heart
26	chr13:30929400-30938000	Weak transcription	Gastric	stomach
27	chr13:30929400-30944400	Weak transcription	GM12878-XiMat	blood
28	chr13:30929600-30930400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr13:30929600-30933400	Weak transcription	Esophagus	oesophagus
30	chr13:30929600-30934800	Weak transcription	Spleen	Spleen
31	chr13:30929600-30942800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr13:30929800-30935000	Weak transcription	Fetal Heart	heart
33	chr13:30929800-30938200	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr13:30930000-30930200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr13:30930000-30930600	Enhancers	Fetal Thymus	thymus
36	chr13:30930000-30930600	Enhancers	Thymus	Thymus
37	chr13:30930000-30934400	Weak transcription	Adipose Nuclei	Adipose
38	chr13:30930000-30936000	Weak transcription	Liver	Liver
39	chr13:30930000-30942800	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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