Variant report

Variant	rs2286052
Chromosome Location	chr14:71207094-71207095
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12586336	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap]
rs12586825	0.95[ASN][1000 genomes]
rs12586828	0.95[ASN][1000 genomes]
rs12586899	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[ASN][1000 genomes]
rs12590343	0.81[ASN][1000 genomes]
rs17108442	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.95[ASN][1000 genomes]
rs17108473	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2051857	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2269946	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2286053	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55634875	0.95[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs55724921	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55725720	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55727545	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55897184	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55910358	0.95[ASN][1000 genomes]
rs55941560	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55972082	0.90[AFR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56801523	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57221433	0.88[ASN][1000 genomes]
rs9972195	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.93[EUR][1000 genomes];0.89[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	nsv1039460	chr14:71176898-71371125	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv1041980	chr14:71196358-71767339	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv542125	chr14:71196358-71767339	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71185800-71219200	Weak transcription	Stomach Mucosa	stomach
2	chr14:71186000-71221600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:71186000-71221600	Weak transcription	Hela-S3	cervix
4	chr14:71189800-71209400	Strong transcription	Fetal Brain Female	brain
5	chr14:71190000-71214400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr14:71191400-71220000	Weak transcription	Fetal Brain Male	brain
7	chr14:71191600-71220200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:71192400-71220200	Weak transcription	Fetal Kidney	kidney
9	chr14:71192600-71221800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr14:71193400-71211400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr14:71193600-71210200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr14:71193800-71209400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr14:71193800-71209400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr14:71194000-71208400	Weak transcription	Brain Substantia Nigra	brain
15	chr14:71194000-71222000	Weak transcription	HSMMtube	muscle
16	chr14:71194200-71209600	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr14:71194400-71210400	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr14:71194400-71213400	Weak transcription	Psoas Muscle	Psoas
19	chr14:71194400-71221600	Weak transcription	Left Ventricle	heart
20	chr14:71194600-71218600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr14:71194600-71221600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr14:71195600-71209400	Strong transcription	Placenta	Placenta
23	chr14:71195600-71209600	Strong transcription	H9 Cell Line	embryonic stem cell
24	chr14:71195600-71210000	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr14:71196200-71209200	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr14:71196200-71217000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr14:71196400-71209400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr14:71197000-71228800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr14:71197600-71217000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr14:71198400-71209400	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr14:71198400-71223400	Weak transcription	Primary hematopoietic stem cells	blood
32	chr14:71198800-71210000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr14:71199000-71212400	Weak transcription	Brain Cingulate Gyrus	brain
34	chr14:71199400-71209000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr14:71199600-71209400	Strong transcription	HMEC	breast
36	chr14:71199600-71219600	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr14:71200000-71210200	Strong transcription	NHEK	skin
38	chr14:71200200-71208800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr14:71200200-71216400	Weak transcription	Brain Hippocampus Middle	brain
40	chr14:71200400-71215400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr14:71200600-71208600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr14:71200600-71224200	Weak transcription	Spleen	Spleen
43	chr14:71200800-71213000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr14:71201200-71215200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr14:71201200-71228000	Weak transcription	Colonic Mucosa	Colon
46	chr14:71201600-71219000	Weak transcription	Lung	lung
47	chr14:71201600-71220600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr14:71202000-71208400	Weak transcription	Fetal Intestine Small	intestine
49	chr14:71202600-71210000	Strong transcription	Primary B cells from peripheral blood	blood
50	chr14:71203600-71207800	Strong transcription	Primary B cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links