Variant report

Variant	rs11853250
Chromosome Location	chr15:43102593-43102594
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:43092442..43095088-chr15:43100736..43102794,2	K562	blood:

Variant related genes	Relation type
ENSG00000260799	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10467975	0.93[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.84[TSI][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11070380	0.88[CEU][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11070382	0.93[ASW][hapmap];0.88[CEU][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];0.86[YRI][hapmap]
rs12323990	0.81[LWK][hapmap]
rs12441352	0.93[ASN][1000 genomes]
rs12591415	0.93[ASW][hapmap]
rs12592573	0.86[ASW][hapmap]
rs12594600	0.93[ASW][hapmap];0.81[YRI][hapmap]
rs12594696	0.93[ASW][hapmap]
rs12594765	0.86[ASW][hapmap]
rs16957037	0.81[LWK][hapmap]
rs16957055	0.86[ASW][hapmap];0.86[LWK][hapmap]
rs16957061	0.86[ASW][hapmap]
rs16957063	0.86[ASW][hapmap];0.84[LWK][hapmap]
rs16957165	0.88[CEU][hapmap];0.92[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16957167	0.88[CEU][hapmap];0.95[MEX][hapmap];0.81[AMR][1000 genomes]
rs16957244	0.92[ASW][hapmap];0.88[CEU][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];0.86[YRI][hapmap]
rs16957250	0.88[CEU][hapmap];0.92[GIH][hapmap];0.92[JPT][hapmap]
rs16957264	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs2682073	0.86[ASW][hapmap];0.88[CEU][hapmap];0.92[JPT][hapmap];0.90[LWK][hapmap];0.81[YRI][hapmap]
rs3742995	0.86[ASW][hapmap];0.84[LWK][hapmap]
rs3803341	0.88[CEU][hapmap];0.86[JPT][hapmap]
rs4334272	0.93[ASW][hapmap]
rs4923955	0.88[CEU][hapmap]
rs55805543	0.90[ASN][1000 genomes]
rs55927779	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6493065	0.86[ASW][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];0.86[LWK][hapmap];0.97[MKK][hapmap];0.81[YRI][hapmap]
rs67920450	0.87[AMR][1000 genomes]
rs7174028	0.93[ASW][hapmap];0.88[CEU][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap]
rs7178567	0.86[ASW][hapmap];0.88[CEU][hapmap];0.86[JPT][hapmap];0.87[LWK][hapmap]
rs7181238	0.86[ASW][hapmap];0.86[MEX][hapmap];0.97[MKK][hapmap]
rs8028699	0.80[YRI][hapmap]
rs8031767	0.93[ASW][hapmap];0.88[CEU][hapmap];0.92[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];0.86[YRI][hapmap]
rs8033336	0.86[ASW][hapmap]
rs8037022	0.88[CEU][hapmap];0.86[JPT][hapmap]
rs8042481	0.88[CEU][hapmap]
rs9920562	0.97[MKK][hapmap]
rs9920624	0.91[MKK][hapmap]
rs9920935	0.86[LWK][hapmap];0.97[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528725	chr15:42755555-43104406	Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv427959	chr15:42931181-43207353	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv977054	chr15:43015821-43171355	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv1050128	chr15:43056145-43262736	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv542368	chr15:43056145-43262736	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv525461	chr15:43062548-43482127	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
7	nsv904134	chr15:43097652-43357406	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43053600-43112200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr15:43054800-43146000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr15:43056800-43116800	Weak transcription	HepG2	liver
4	chr15:43057600-43107000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr15:43060800-43122200	Weak transcription	GM12878-XiMat	blood
6	chr15:43063400-43136200	Weak transcription	Psoas Muscle	Psoas
7	chr15:43064000-43114200	Weak transcription	Fetal Kidney	kidney
8	chr15:43064800-43150800	Weak transcription	HSMM	muscle
9	chr15:43067400-43147200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr15:43075200-43143800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr15:43075400-43135800	Weak transcription	HSMMtube	muscle
12	chr15:43075600-43150800	Weak transcription	Colon Smooth Muscle	Colon
13	chr15:43075800-43117200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr15:43075800-43119200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr15:43075800-43124800	Weak transcription	Hela-S3	cervix
16	chr15:43075800-43134800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr15:43075800-43159200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr15:43089400-43104000	Weak transcription	NHDF-Ad	bronchial
19	chr15:43089400-43105800	Weak transcription	Osteobl	bone
20	chr15:43089600-43118400	Weak transcription	HMEC	breast
21	chr15:43089800-43165200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr15:43091400-43103000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr15:43091800-43135400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr15:43092600-43105000	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr15:43093000-43111800	Weak transcription	Fetal Heart	heart
26	chr15:43093000-43124600	Weak transcription	Small Intestine	intestine
27	chr15:43094400-43104400	Weak transcription	NHLF	lung
28	chr15:43094400-43118000	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr15:43094400-43118000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr15:43094400-43163800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr15:43094600-43111400	Weak transcription	Pancreas	Pancrea
32	chr15:43094600-43115800	Weak transcription	Colonic Mucosa	Colon
33	chr15:43094600-43150800	Weak transcription	Aorta	Aorta
34	chr15:43094800-43105400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr15:43094800-43105400	Weak transcription	Fetal Intestine Small	intestine
36	chr15:43094800-43112400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr15:43094800-43124800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr15:43095000-43102800	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr15:43095000-43119400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr15:43095000-43165000	Weak transcription	Spleen	Spleen
41	chr15:43095200-43118400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr15:43095200-43120000	Weak transcription	Fetal Thymus	thymus
43	chr15:43095200-43130600	Weak transcription	Thymus	Thymus
44	chr15:43095400-43102600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr15:43095600-43102600	Weak transcription	Brain Cingulate Gyrus	brain
46	chr15:43095600-43118400	Weak transcription	NHEK	skin
47	chr15:43095600-43124600	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr15:43095600-43136000	Weak transcription	Fetal Brain Female	brain
49	chr15:43095800-43105400	Weak transcription	Fetal Stomach	stomach
50	chr15:43095800-43130800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links