Variant report

Variant	rs4243113
Chromosome Location	chr16:75426700-75426701
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	chr16:75426315..75428728-chr16:75451819..75454335,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs17605723	0.87[EUR][1000 genomes]
rs17605814	0.90[EUR][1000 genomes]
rs17606084	0.93[EUR][1000 genomes]
rs17674257	0.90[EUR][1000 genomes]
rs187435	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2454860	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs247429	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs247441	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs247451	0.85[EUR][1000 genomes]
rs3094015	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs37586	0.85[EUR][1000 genomes]
rs37590	1.00[CEU][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs37591	0.82[AFR][1000 genomes]
rs391192	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs451589	0.95[TSI][hapmap];0.87[EUR][1000 genomes]
rs469176	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58518445	0.88[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs6564246	0.87[EUR][1000 genomes]
rs66885758	0.90[EUR][1000 genomes]
rs66886787	0.90[EUR][1000 genomes]
rs67836283	0.90[EUR][1000 genomes]
rs7185976	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7192448	0.89[CEU][hapmap];0.95[TSI][hapmap];0.93[EUR][1000 genomes]
rs7193299	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7199718	0.88[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs7202997	0.93[EUR][1000 genomes]
rs72787117	0.93[EUR][1000 genomes]
rs72787126	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72787129	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72787135	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72787147	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72787159	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72787163	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72787169	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72787179	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72787185	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72787193	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72804118	0.86[EUR][1000 genomes]
rs72804120	0.87[EUR][1000 genomes]
rs72804135	0.89[EUR][1000 genomes]
rs72804140	0.90[EUR][1000 genomes]
rs72804141	0.90[EUR][1000 genomes]
rs72804154	0.90[EUR][1000 genomes]
rs72804155	0.90[EUR][1000 genomes]
rs72804160	0.90[EUR][1000 genomes]
rs72804161	0.89[EUR][1000 genomes]
rs72804162	0.89[EUR][1000 genomes]
rs8044442	0.89[CEU][hapmap];0.85[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8055093	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	nsv1065995	chr16:75373756-75626027	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	esv2422358	chr16:75381762-75456763	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1063718	chr16:75395969-75608071	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
6	nsv525232	chr16:75402361-75439132	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv525466	chr16:75402361-75439132	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	esv2758432	chr16:75419614-75576971	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
9	esv2758657	chr16:75419614-75576971	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75376600-75426800	Weak transcription	Brain Germinal Matrix	brain
2	chr16:75399600-75426800	Weak transcription	Esophagus	oesophagus
3	chr16:75403600-75426800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr16:75406000-75453400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr16:75407200-75454200	Weak transcription	Stomach Mucosa	stomach
6	chr16:75409200-75445400	Weak transcription	Colonic Mucosa	Colon
7	chr16:75412000-75426800	Weak transcription	Spleen	Spleen
8	chr16:75412200-75428000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr16:75412600-75426800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr16:75412600-75446000	Weak transcription	Brain Substantia Nigra	brain
11	chr16:75415400-75443200	Weak transcription	Small Intestine	intestine
12	chr16:75415600-75453400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr16:75416800-75426800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr16:75420000-75426800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr16:75421000-75429800	Strong transcription	Primary T cells from cord blood	blood
16	chr16:75421200-75429200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr16:75421200-75429200	Strong transcription	Fetal Muscle Trunk	muscle
18	chr16:75421400-75426800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr16:75421400-75426800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr16:75421400-75427600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr16:75421400-75429000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr16:75421400-75429200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr16:75421400-75429200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr16:75421400-75429200	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr16:75421400-75429200	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr16:75421400-75429200	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr16:75421400-75429200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr16:75421400-75429200	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr16:75421600-75430000	Strong transcription	HepG2	liver
30	chr16:75422200-75429400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr16:75422600-75429800	Strong transcription	Dnd41	blood
32	chr16:75423000-75429200	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr16:75423000-75429400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr16:75423200-75426800	Weak transcription	Right Atrium	heart
35	chr16:75423400-75429400	Strong transcription	Fetal Thymus	thymus
36	chr16:75423600-75429400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr16:75423600-75429400	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr16:75423800-75427200	Strong transcription	GM12878-XiMat	blood
39	chr16:75423800-75429000	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr16:75423800-75429200	Strong transcription	Primary B cells from peripheral blood	blood
41	chr16:75423800-75429200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr16:75423800-75429200	Strong transcription	NH-A	brain
43	chr16:75423800-75429400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr16:75424000-75427000	Strong transcription	NHEK	skin
45	chr16:75424000-75427200	Strong transcription	Ovary	ovary
46	chr16:75424000-75427800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr16:75424000-75429200	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr16:75424000-75429200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr16:75424000-75429200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr16:75424000-75429400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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