Variant report

Variant	rs11625742
Chromosome Location	chr14:68227444-68227445
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	chr14:68224045..68225804-chr14:68225977..68227685,2	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10133485	1.00[CEU][hapmap]
rs10133652	1.00[CEU][hapmap]
rs10135925	1.00[CEU][hapmap]
rs10137712	1.00[CEU][hapmap]
rs10145884	1.00[CEU][hapmap]
rs10146766	1.00[CEU][hapmap]
rs10146831	1.00[CEU][hapmap]
rs10148893	1.00[CEU][hapmap]
rs10450891	1.00[CEU][hapmap]
rs1118397	1.00[CEU][hapmap]
rs17104663	0.85[EUR][1000 genomes]
rs17104681	1.00[CEU][hapmap]
rs17104689	1.00[CEU][hapmap]
rs17104700	1.00[CEU][hapmap]
rs17104774	1.00[CEU][hapmap]
rs17104783	1.00[CEU][hapmap]
rs17104786	1.00[CEU][hapmap]
rs17104793	1.00[CEU][hapmap]
rs17104796	1.00[CEU][hapmap]
rs17104799	1.00[CEU][hapmap]
rs17783202	1.00[CEU][hapmap]
rs1812250	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1955469	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2180537	1.00[CEU][hapmap]
rs3742882	1.00[CEU][hapmap]
rs3742883	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3742884	0.85[EUR][1000 genomes]
rs3742885	1.00[CEU][hapmap];0.82[JPT][hapmap];0.85[EUR][1000 genomes]
rs4899229	1.00[CEU][hapmap]
rs4902523	1.00[CEU][hapmap];0.82[JPT][hapmap]
rs4902530	1.00[CEU][hapmap]
rs4902531	1.00[CEU][hapmap]
rs56082285	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs58159602	0.85[EUR][1000 genomes]
rs6573802	1.00[CEU][hapmap]
rs7141203	1.00[CEU][hapmap]
rs7143521	1.00[CEU][hapmap]
rs7147296	1.00[CEU][hapmap]
rs7149460	1.00[CEU][hapmap]
rs7149796	1.00[CEU][hapmap];0.82[JPT][hapmap]
rs7150860	1.00[CEU][hapmap]
rs7152831	0.82[ASN][1000 genomes]
rs7153824	0.82[AMR][1000 genomes]
rs7156492	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs7157720	1.00[CEU][hapmap]
rs7158363	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs742867	1.00[CEU][hapmap];0.83[AMR][1000 genomes]
rs8006175	1.00[CEU][hapmap]
rs8007989	1.00[CEU][hapmap];0.82[JPT][hapmap]
rs8008791	1.00[CEU][hapmap]
rs8012665	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs8015595	1.00[CEU][hapmap];0.82[JPT][hapmap]
rs8015741	1.00[CEU][hapmap]
rs8017930	1.00[CEU][hapmap]
rs8020512	1.00[CEU][hapmap]
rs932474	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs932475	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9652362	1.00[CEU][hapmap]
rs9652363	1.00[CEU][hapmap]
rs9652364	1.00[CEU][hapmap]
rs9788517	1.00[CEU][hapmap]
rs9796374	1.00[CEU][hapmap]

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	nsv1042536	chr14:68136913-68343198	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats 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	38 gene(s)	inside rSNPs	diseases
2	nsv542122	chr14:68136913-68343198	Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1054697	chr14:68202004-68345982	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68202800-68230800	Weak transcription	Right Atrium	heart
2	chr14:68206200-68251000	Weak transcription	K562	blood
3	chr14:68211600-68230800	Weak transcription	Stomach Mucosa	stomach
4	chr14:68212400-68282800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr14:68212800-68229800	Strong transcription	Fetal Intestine Large	intestine
6	chr14:68213000-68229800	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr14:68213000-68233000	Strong transcription	Primary hematopoietic stem cells	blood
8	chr14:68213000-68233000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr14:68213000-68280800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr14:68213200-68229800	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr14:68213200-68243200	Strong transcription	Skeletal Muscle Female	skeletal muscle
12	chr14:68213400-68281200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr14:68213600-68229200	Strong transcription	Placenta	Placenta
14	chr14:68213600-68279600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr14:68213800-68228800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr14:68213800-68237000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr14:68213800-68280600	Strong transcription	Liver	Liver
18	chr14:68214000-68232000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr14:68214000-68258200	Strong transcription	Brain Germinal Matrix	brain
20	chr14:68214600-68232800	Strong transcription	Primary B cells from peripheral blood	blood
21	chr14:68214600-68281000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:68214800-68266800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr14:68214800-68276200	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr14:68214800-68280200	Strong transcription	Fetal Thymus	thymus
25	chr14:68216600-68267200	Strong transcription	Fetal Stomach	stomach
26	chr14:68218600-68236400	Strong transcription	GM12878-XiMat	blood
27	chr14:68220000-68251200	Strong transcription	Fetal Muscle Trunk	muscle
28	chr14:68220200-68232800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr14:68220200-68273000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr14:68220400-68228200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr14:68220600-68227600	Weak transcription	Fetal Heart	heart
32	chr14:68221400-68227600	Weak transcription	A549	lung
33	chr14:68221600-68227600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr14:68221600-68227600	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr14:68221600-68233800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr14:68221800-68229000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr14:68222200-68227600	Weak transcription	Esophagus	oesophagus
38	chr14:68222400-68230600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr14:68223400-68227600	Weak transcription	Colonic Mucosa	Colon
40	chr14:68223600-68227600	Weak transcription	NHEK	skin
41	chr14:68223800-68257600	Strong transcription	Stomach Smooth Muscle	stomach
42	chr14:68224200-68244000	Strong transcription	Fetal Muscle Leg	muscle
43	chr14:68224800-68281000	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr14:68225000-68281000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr14:68225200-68227600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr14:68225200-68227800	Weak transcription	Osteobl	bone
47	chr14:68225400-68227600	Weak transcription	HSMM	muscle
48	chr14:68225400-68242600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr14:68225600-68229800	Strong transcription	Fetal Intestine Small	intestine
50	chr14:68225800-68229800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland

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